BRCA2

Summary

Gene Symbol: BRCA2
Description: breast cancer 2, early onset
Alias: BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, BRCA1/BRCA2-containing complex, subunit 2, Fanconi anemia group D1 protein, breast and ovarian cancer susceptibility gene, early onset, breast cancer 2 tumor suppressor, breast cancer type 2 susceptibility protein
Species: human

Top Publications

  1. ncbi Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    Mary Claire King
    Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Science 302:643-6. 2003
  2. doi Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers
    Peter C Fong
    Drug Development Unit, Royal Marsden National Health Service Foundation Trust and the Institute of Cancer Research, Sutton, Surrey, United Kingdom
    N Engl J Med 361:123-34. 2009
  3. pmc Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies
    A Antoniou
    Cancer Research U K Genetic Epidemiology Unit, Department of Public Health, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 72:1117-30. 2003
  4. pmc Meta-analysis of BRCA1 and BRCA2 penetrance
    Sining Chen
    Departments of Environmental Health Sciences and Biostatistics, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA
    J Clin Oncol 25:1329-33. 2007
  5. ncbi Biallelic inactivation of BRCA2 in Fanconi anemia
    Niall G Howlett
    Department of Pediatric Oncology, Children s Hospital, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA
    Science 297:606-9. 2002
  6. ncbi Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2
    Bing Xia
    Dana Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA
    Mol Cell 22:719-29. 2006
  7. pmc Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
  8. pmc Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK
    Hum Mol Genet 20:3304-21. 2011
  9. pmc The breast cancer tumor suppressor BRCA2 promotes the specific targeting of RAD51 to single-stranded DNA
    Tina Thorslund
    London Research Institute, Cancer Research UK, Clare Hall Laboratories, South Mimms, Hertfordshire, UK
    Nat Struct Mol Biol 17:1263-5. 2010
  10. pmc Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction
    Antonis C Antoniou
    Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Cancer Res 70:9742-54. 2010

Detail Information

Publications269 found, 100 shown here

  1. ncbi Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    Mary Claire King
    Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Science 302:643-6. 2003
    ..cancer were determined for Ashkenazi Jewish women with inherited mutations in the tumor suppressor genes BRCA1 and BRCA2. We selected 1008 index cases, regardless of family history of cancer, and carried out molecular analysis across ..
  2. doi Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers
    Peter C Fong
    Drug Development Unit, Royal Marsden National Health Service Foundation Trust and the Institute of Cancer Research, Sutton, Surrey, United Kingdom
    N Engl J Med 361:123-34. 2009
    ..for the treatment of cancers with specific DNA-repair defects, including those arising in carriers of a BRCA1 or BRCA2 mutation...
  3. pmc Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies
    A Antoniou
    Cancer Research U K Genetic Epidemiology Unit, Department of Public Health, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 72:1117-30. 2003
    Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer, but the average magnitude of these risks is uncertain and may depend on the context...
  4. pmc Meta-analysis of BRCA1 and BRCA2 penetrance
    Sining Chen
    Departments of Environmental Health Sciences and Biostatistics, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA
    J Clin Oncol 25:1329-33. 2007
    Genetic counseling is now routinely offered to individuals at high risk of carrying a BRCA1 or BRCA2 mutation. Risk prediction provided by the counselor requires reliable estimates of the mutation penetrance...
  5. ncbi Biallelic inactivation of BRCA2 in Fanconi anemia
    Niall G Howlett
    Department of Pediatric Oncology, Children s Hospital, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA
    Science 297:606-9. 2002
    ..Here we show that cell lines derived from FA-B and FA-D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2 proteins...
  6. ncbi Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2
    Bing Xia
    Dana Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA
    Mol Cell 22:719-29. 2006
    b>BRCA2 mutations predispose carriers to breast and ovarian cancer and can also cause other cancers and Fanconi anemia...
  7. pmc Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
    ..common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers...
  8. pmc Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK
    Hum Mol Genet 20:3304-21. 2011
    ..breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently ..
  9. pmc The breast cancer tumor suppressor BRCA2 promotes the specific targeting of RAD51 to single-stranded DNA
    Tina Thorslund
    London Research Institute, Cancer Research UK, Clare Hall Laboratories, South Mimms, Hertfordshire, UK
    Nat Struct Mol Biol 17:1263-5. 2010
    Individuals with BRCA2 mutations are predisposed to breast cancers owing to genome instability. To determine the functions of BRCA2, the human protein was purified...
  10. pmc Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction
    Antonis C Antoniou
    Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Cancer Res 70:9742-54. 2010
    ..polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers...
  11. ncbi Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
    Bing Xia
    Dana Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA
    Nat Genet 39:159-61. 2007
    The Fanconi anemia and BRCA networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals with Fanconi anemia subtype D1...
  12. ncbi Stabilization of RAD51 nucleoprotein filaments by the C-terminal region of BRCA2
    Fumiko Esashi
    Cancer Research UK, London Research Institute, Clare Hall Laboratories, South Mimms, Herts EN6 3LD, UK
    Nat Struct Mol Biol 14:468-74. 2007
    The human breast cancer susceptibility gene BRCA2 is required for the regulation of RAD51-mediated homologous recombinational repair...
  13. ncbi Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer
    William D Foulkes
    Program in Cancer Genetics, Department of Oncology and Human Genetics, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada
    J Natl Cancer Inst 95:1482-5. 2003
    ..Among 292 breast cancer specimens previously analyzed for ER, erbB-2, p53, and germline mutations in BRCA1 and BRCA2, we identified 76 that did not overexpress ER or erbB-2...
  14. ncbi Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years
    Kathleen E Malone
    Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
    Cancer Res 66:8297-308. 2006
    Although well studied in families at high-risk, the roles of mutations in the BRCA1 and BRCA2 genes are poorly understood in breast cancers in the general population, particularly in Black women and in age groups outside of the very ..
  15. doi Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary
    Phillip J Whiley
    Queensland Institute of Medical Research, Brisbane, Australia
    Hum Mutat 32:678-87. 2011
    Clinical management of breast cancer families is complicated by identification of BRCA1 and BRCA2 sequence alterations of unknown significance...
  16. ncbi The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified
    Wen Feng Li
    Department of Oncology, Breast Cancer Institute, Cancer Hospital Cancer Institute, Institutes of Biomedical Science, Shanghai Medical College, Fudan University, 270 Dong An Road, Shanghai 200032, PR China
    Breast Cancer Res Treat 110:99-109. 2008
    To have an overview of the role of BRCA1 and BRCA2 genes among Chinese high-risk breast cancer patients, we analyzed 489 such high-risk breast cancer patients from four breast disease clinical centers in China, by using PCR-DHPLC or SSCP-..
  17. pmc Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit, University of Cambridge, Cambridge, UK
    Hum Mol Genet 18:4442-56. 2009
    ..at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers...
  18. doi PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2
    Fan Zhang
    Division of Experimental Hematology and Cancer Biology, Cincinnati Children s Research Foundation, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA
    Mol Cancer Res 7:1110-8. 2009
    BRCA1 and BRCA2 are prominently associated with inherited breast and ovarian cancer. The encoded proteins function in DNA damage responses, but no functional link between BRCA1 and BRCA2 has been established...
  19. ncbi Identification of the breast cancer susceptibility gene BRCA2
    R Wooster
    Section of Molecular Carcinogenesis, Haddow Laboratories, Sutton Surrey, UK
    Nature 378:789-92. 1995
    ..The breast cancer susceptibility gene, BRCA2, was recently localized to chromosome 13q12-q13...
  20. pmc A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
    Douglas F Easton
    Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Cambridge, UK
    Am J Hum Genet 81:873-83. 2007
    Mutation screening of the breast and ovarian cancer-predisposition genes BRCA1 and BRCA2 is becoming an increasingly important part of clinical practice...
  21. pmc The carboxyl terminus of Brca2 links the disassembly of Rad51 complexes to mitotic entry
    Nabieh Ayoub
    Medical Research Council Cancer Cell Unit, Hutchison MRC Research Centre, Hills Road, Cambridge CB2 2XZ, UK
    Curr Biol 19:1075-85. 2009
    ..Rad51 assembly is regulated by the breast cancer suppressor Brca2, via its evolutionarily conserved BRC repeats, and a distinct carboxy (C)-terminal motif whose biological function ..
  22. ncbi Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling
    E Beristain
    Laboratorio de Genetica Molecular, Hospital de Cruces, Pza de Cruces s n, 48903 Barakaldo, Bizkaia, Spain
    Breast Cancer Res Treat 106:255-62. 2007
    The prevalence of unique and recurrent BRCA1 and BRCA2 pathogenic mutations and unclassified variants varies among different populations...
  23. pmc Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity
    Logan C Walker
    Queensland Institute of Medical Research, Brisbane, Australia
    Hum Mutat 31:E1484-505. 2010
    ..approaches and in vitro assays are useful for the classification of exonic sequence variants in BRCA1 and BRCA2, but these currently rely on the assumption that changes in protein function are the major biological mechanism of ..
  24. doi Preventing future cancers by testing women with ovarian cancer for BRCA mutations
    Janice S Kwon
    Division of Gynecologic Oncology, University of British Columbia, British Columbia, Canada
    J Clin Oncol 28:675-82. 2010
    ..We estimated the net health benefits and cost-effectiveness of different criteria for BRCA mutation testing in women with ovarian cancer, and the downstream benefits for their first-degree relatives (FDRs)...
  25. ncbi BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives
    Fiona Lalloo
    Department of Clinical, Genetics and Academic Unit of Medical Genetics, St Mary s Hospital, Hathersage Road, Manchester M13 0JH, United Kingdom
    Eur J Cancer 42:1143-50. 2006
    Pathological mutations in BRCA1, BRCA2 and TP53 are associated with an increased risk of breast cancer...
  26. doi Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes
    Mireia Menendez
    Hereditary Cancer Program, Genetic Diagnosis Unit, Laboratori de Recerca Translacional, Institut Catala d Oncologia, Hospital Duran i Reynals Bellvitge Biomedical Research Institute, L Hospitalet de Llobregat, Barcelona and Hospital Josep Trueta, IdiBGi, Gran Via 199 203, Girona 08908, Spain
    Breast Cancer Res Treat 132:979-92. 2012
    Comprehensive genetic testing of the breast cancer susceptibility genes BRCA1 and BRCA2 identified approximately 16% of variants of unknown significance (VUS), a significant proportion of which could affect the correct splicing of the ..
  27. doi Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members
    Mads Thomassen
    Department of Clinical Genetics, Odense University Hospital, Soenderboulevard 29, 5000 Odense C, Denmark
    Breast Cancer Res Treat 132:1009-23. 2012
    Mutations in BRCA1 and BRCA2 predispose carriers to early onset breast and ovarian cancer. A common problem in clinical genetic testing is interpretation of variants with unknown clinical significance...
  28. pmc The prevalence of BRCA1 mutations among young women with triple-negative breast cancer
    S R Young
    Women s College Research Institute, Department of Public Health, The University of Toronto, Toronto, Canada
    BMC Cancer 9:86. 2009
    Molecular screening for BRCA1 and BRCA2 mutations is now an established component of risk evaluation and management of familial breast cancer...
  29. ncbi Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2
    Nancie Petrucelli
    Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, Michigan, USA
    Genet Med 12:245-59. 2010
    Hereditary breast and ovarian cancer due to mutations in the BRCA1 and BRCA2 genes is the most common cause of hereditary forms of both breast and ovarian cancer...
  30. pmc Prevalence of the variant allele rs61764370 T>G in the 3'UTR of KRAS among Dutch BRCA1, BRCA2 and non-BRCA1/BRCA2 breast cancer families
    Antoinette Hollestelle
    Department of Medical Oncology, Josephine Nefkens Institute and Daniel den Hoed Cancer Center, Erasmus University Medical Center, Rotterdam, The Netherlands
    Breast Cancer Res Treat 128:79-84. 2011
    ..In the current study, we have genotyped this KRAS-variant in breast cancer index cases from 268 BRCA1 families, 89 BRCA2 families, 685 non-BRCA1/BRCA2 families, and 797 geographically matched controls...
  31. ncbi BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment model
    Kristen J Vogel
    Center for Medical Genetics, Evanston Northwestern Healthcare, Evanston, IL, USA
    J Clin Oncol 25:4635-41. 2007
    The BRCAPRO model, used to predict a family's likelihood of carrying a BRCA1 or BRCA2 mutation, was designed using mutation frequencies of white and Ashkenazi Jewish populations, and may not be applicable to other populations...
  32. doi Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups
    B G Haffty
    Department of Radiation Oncology, UMDNJ RWJMS and Cancer Institute of New Jersey, New Brunswick, NJ 08901, USA
    Ann Oncol 20:1653-9. 2009
    ..The purpose of this study is to evaluate the prevalence of BRCA1/2 mutations and the association between BRCA1/2 mutation status and secondary malignancies among young women with breast cancer in these three racially diverse groups...
  33. pmc Pathology of hereditary breast cancer
    Petra van der Groep
    Department of Pathology, University Medical Center Utrecht, P O Box 85500, 3508 GA, Utrecht, The Netherlands
    Cell Oncol (Dordr) 34:71-88. 2011
    ..Most of these breast cancers are caused by mutations in the high penetrance genes BRCA1 and BRCA2 accounting for about 5% of all breast cancers...
  34. ncbi Mutation analysis in the BRCA2 gene in primary breast cancers
    Y Miki
    Department of Human Genome Analysis, Cancer Chemotherapy Center, Tokyo, Japan
    Nat Genet 13:245-7. 1996
    ..1), BRCA2 (ref. 2), TP53 (ref...
  35. ncbi De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes
    Erik Teugels
    Laboratory of Molecular and Medical Oncology, AZ VUB, Vrije Universiteit Brussel, Laarbeeklaan 101, B1090 Brussels, Belgium
    Hum Mutat 26:284. 2005
    Linkage analysis suggests that mutations in the BRCA1 and BRCA2 genes are responsible for cancer predisposition in more than 80% of the families with high incidence of breast/ovarian cancer...
  36. pmc Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family
    D Gareth Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital Manchester M13 0JH, UK
    BMC Cancer 8:155. 2008
    The identification of a BRCA1 or BRCA2 mutation in familial breast cancer kindreds allows genetic testing of at risk relatives...
  37. ncbi Abnormal cytokinesis in cells deficient in the breast cancer susceptibility protein BRCA2
    Matthew J Daniels
    University of Cambridge, Cancer Research UK, Department of Oncology and the Medical Research Council MRC Cancer Cell Unit, Hutchison MRC Research Centre, Hills Road, Cambridge CB2 2XZ, UK
    Science 306:876-9. 2004
    Germ-line mutations inactivating BRCA2 predispose to cancer. BRCA2-deficient cells exhibit alterations in chromosome number (aneuploidy), as well as structurally aberrant chromosomes...
  38. pmc Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan
    Alexander Liede
    University of Toronto, Sunnybrook and Women s College Health Sciences Centre, Toronto, Ontario, Canada
    Am J Hum Genet 71:595-606. 2002
    ..The prevalence of BRCA1 or BRCA2 mutations among case subjects with breast cancer was 6.7% (95% confidence interval [CI] 4.1%-9...
  39. doi Expanding the criteria for BRCA mutation testing in breast cancer survivors
    Janice S Kwon
    Division of Gynecologic Oncology, University of British Columbia and British Columbia Cancer Agency, Vancouver, British Columbia, Canada
    J Clin Oncol 28:4214-20. 2010
    ..Not all potential carriers are identified by existing criteria for BRCA testing. We estimated the costs and benefits of different BRCA testing criteria for women with breast cancer younger than 50 years...
  40. pmc Incorporating tumour pathology information into breast cancer risk prediction algorithms
    Nasim Mavaddat
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK
    Breast Cancer Res 12:R28. 2010
    Mutations in BRCA1 and BRCA2 confer high risks of breast cancer and ovarian cancer...
  41. ncbi BRCA2 germline mutations in familial pancreatic carcinoma
    Stephan A Hahn
    Department of Internal Medicine, Knappschaftskrankenhaus University of Bochum, Germany
    J Natl Cancer Inst 95:214-21. 2003
    ..Some studies have shown that families with germline mutations in the breast cancer susceptibility gene BRCA2 have an increased risk of breast and ovarian cancers, as well as a modestly increased risk of pancreatic cancer...
  42. ncbi High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia
    Diana Torres
    Division of Molecular Genome Analysis, German Cancer Research Center, Im Neuenheimer Feld 580, Heidelberg, Germany
    Breast Cancer Res Treat 103:225-32. 2007
    ..Since nothing is known about the contribution of BRCA1 and BRCA2 germline mutations to hereditary breast/ovarian cancer in the Hispanic population from Colombia, we conducted the ..
  43. pmc Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer
    E Thirthagiri
    Cancer Research Initiatives Foundation, Subang Jaya Medical Centre, Kuala Lumpur, Malaysia
    Breast Cancer Res 10:R59. 2008
    The cost of genetic testing and the limited knowledge about the BRCA1 and BRCA2 genes in different ethnic groups has limited its availability in medium- and low-resource countries, including Malaysia...
  44. pmc Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Executive Plaza South, Room 7020, Rockville, MD 20852 7231, USA
    J Med Genet 44:1-9. 2007
    Patients with biallelic mutations in BRCA2 are in Fanconi anaemia group D1...
  45. pmc Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population
    Sharon Simchoni
    Medical Genetics Unit, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem 91031, Israel
    Proc Natl Acad Sci U S A 103:3770-4. 2006
    Inherited mutations in BRCA1 and BRCA2 lead to significantly increased risks of breast and ovarian cancer. We used epidemiologic methods to evaluate the relative risks of breast cancer vs...
  46. pmc Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Xianshu Wang
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
    Hum Mol Genet 19:2886-97. 2010
    ..have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in BRCA1 and BRCA2 mutation carriers...
  47. ncbi CDK-dependent phosphorylation of BRCA2 as a regulatory mechanism for recombinational repair
    Fumiko Esashi
    Cancer Research UK, London Research Institute, Clare Hall Laboratories, South Mimms, Hertfordshire EN6 3LD, UK
    Nature 434:598-604. 2005
    Inherited mutations in BRCA2 are associated with a predisposition to early-onset breast cancers. The underlying basis of tumorigenesis is thought to be linked to defects in DNA double-strand break repair by homologous recombination...
  48. pmc A region of human BRCA2 containing multiple BRC repeats promotes RAD51-mediated strand exchange
    Mahmud K K Shivji
    Cancer Research UK Department of Oncology and The Medical Research Council Cancer Cell Unit, Hutchison MRC Research Centre, University of Cambridge, Hills Road, Cambridge CB2 2XZ, UK
    Nucleic Acids Res 34:4000-11. 2006
    Human BRCA2, a breast and ovarian cancer suppressor, binds to the DNA recombinase RAD51 through eight conserved BRC repeats, motifs of approximately 30 residues, dispersed across a large region of the protein...
  49. pmc Age-dependent penetrance of different germline mutations in the BRCA1 gene
    F Al-Mulla
    Department of Pathology, Safat, Kuwait
    J Clin Pathol 62:350-6. 2009
    ..This study addresses whether different exon mutations have variable expressivity especially in relation to the age of onset of breast cancer...
  50. doi Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1
    M D Miramar
    Medical Genetics Unit, Biochemistry Service, Miguel Servet Hospital, Zaragoza, Spain
    Breast Cancer Res Treat 112:353-8. 2008
    We screened BRCA1 and BRCA2 germline mutations in 60 high-risk breast and/or ovarian cancer patients and 20 relatives from Aragon (Spain) by DHPLC (Denaturing High Performance Liquid Chromatography) and direct sequencing of the entire ..
  51. pmc A genetic screen identifies BRCA2 and PALB2 as key regulators of G2 checkpoint maintenance
    Tobias Menzel
    Biotech Research and Innovation Centre, University of Copenhagen, Ole Maaløes Vej 5, Copenhagen N 2200, Denmark
    EMBO Rep 12:705-12. 2011
    ..screens for regulators of the ionizing radiation-induced G2 checkpoint, and we identified the breast cancer gene BRCA2. The checkpoint was also abrogated following depletion of PALB2, an interaction partner of BRCA2...
  52. pmc MRG15 binds directly to PALB2 and stimulates homology-directed repair of chromosomal breaks
    Tomohiro Hayakawa
    Laboratory for Chromatin Dynamics, RIKEN Center for Developmental Biology, Kobe, Hyogo 650 0047, Japan
    J Cell Sci 123:1124-30. 2010
    PALB2 physically and functionally connects the proteins encoded by the BRCA1 and BRCA2 breast and ovarian cancer genes into a DNA-damage-response network...
  53. ncbi Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
    James D Fackenthal
    Department of Medicine and Center for Clinical Cancer Genetics, University of Chicago, Box MC2115, 5841 S Maryland Avenue, Chicago, Illinois 60615, USA
    Nat Rev Cancer 7:937-48. 2007
    Germline mutations in the BRCA1 or BRCA2 tumour-suppressor genes are strong predictors of breast and/or ovarian cancer development...
  54. pmc Expression profiling of familial breast cancers demonstrates higher expression of FGFR2 in BRCA2-associated tumors
    Anita L Bane
    Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada
    Breast Cancer Res Treat 117:183-91. 2009
    BRCA1- and BRCA2-associated tumors appear to have distinct molecular signatures. BRCA1-associated tumors are predominantly basal-like cancers, whereas BRCA2-associated tumors have a predominant luminal-like phenotype...
  55. ncbi Prevalence of BRCA1 and BRCA2 mutations in women diagnosed with ductal carcinoma in situ
    Elizabeth B Claus
    Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, Conn 06520 8034, USA
    JAMA 293:964-9. 2005
    The distribution of BRCA1 and BRCA2 mutations in women diagnosed with noninvasive breast carcinoma is unknown.
  56. ncbi Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer
    Tomas Kirchhoff
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Natl Cancer Inst 96:68-70. 2004
    Mutations in BRCA1 and BRCA2 that predispose to breast and ovarian cancer are detected in approximately 2.5% of the Ashkenazi Jewish population...
  57. ncbi Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia
    John E Wagner
    Division of Pediatric Hematology, Oncology, and Blood Marrow Transplantation, University of Minnesota Medical School, Minneapolis, MN, USA
    Blood 103:3226-9. 2004
    ..breast cancer susceptibility gene BRCA2 has recently been identified as identical to the Fanconi anemia (FA) gene FANCD1. Here we expand the clinical implications of this discovery...
  58. ncbi BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer
    Jae Hong Seo
    Department of Internal Medicine, Division of Hematology Oncology, College of Medicine, Korea University, Seoul, Korea
    Hum Mutat 24:350. 2004
    In order to evaluate the role of BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer, 97 patients with sporadic breast cancer were analyzed for mutations in the BRCA1 and BRCA2 coding regions, by using a ..
  59. pmc PALB2 links BRCA1 and BRCA2 in the DNA-damage response
    Feng Zhang
    Division of Molecular Medicine and Genetics, Department of Internal Medicine, University of Michigan Medical School, 109 Zina Pitcher Place, BSRB 1520, Ann Arbor, MI 48109, USA
    Curr Biol 19:524-9. 2009
    BRCA1 and BRCA2 are often mutated in familial breast and ovarian cancer. Both tumor suppressors play key roles in the DNA-damage response...
  60. doi Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
    Roger L Milne
    Grupo de Epidemiología Genética y Molecular, Programa de Genética del Cáncer Humano, Centro Nacional de Investigaciones Oncologicas CNIO, C Melchor Fernández Almagro, Madrid, Spain
    Breast Cancer Res Treat 119:221-32. 2010
    ..factors are likely to explain part of the heterogeneity in breast and ovarian cancer risk among BRCA1 and BRCA2 mutation carriers...
  61. pmc Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations
    Luna Kadouri
    J Med Genet 44:467-71. 2007
    ..The risks for cancers other than breast (BC) or ovarian (OC) cancer in breast cancer gene 1 and 2 (BRCA1/2) mutation carriers were elevated in studies of carrier families. However, case-control studies did not confirm this observation...
  62. doi A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients
    David J Sanz
    Grupo de Genetica del Cancer, Instituto de Biologia y Genetica Molecular, Consejo Superior de Investigaciones Cientificas Universidad de Valladolid, Valladolid, Spain
    Clin Cancer Res 16:1957-67. 2010
    ..An increasing amount of evidence indicates that there can be deleterious effects through the disruption of the splicing process. We have investigated the effect of aberrant splicing of BRCA1/2 on hereditary breast/ovarian cancer (HBOC)...
  63. ncbi Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan
    S S Li
    Institute of Biomedical Sciences, National Sun Yat Sen University, Kaohsiung, Taiwan, Republic of China
    Hum Genet 104:201-4. 1999
    ..southern Taiwan, and 5 of these families were found to carry cancer-associated germline mutations in the BRCA1 and BRCA2 genes...
  64. pmc Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts
    Phillip J Whiley
    School of Chemistry and Molecular Biosciences, The University of Queensland, Australia
    BMC Med Genet 11:80. 2010
    ..a number of variants of unknown clinical significance in the breast cancer susceptibility genes, BRCA1 and BRCA2. Evaluation of such unclassified variants may be assisted by web-based bioinformatic prediction tools, although ..
  65. pmc BRCA2 mutations and triple-negative breast cancer
    Peter Meyer
    Institute of Medical Genetics, University Hospital, Rostock, Germany
    PLoS ONE 7:e38361. 2012
    ..b>BRCA2 was either not analyzed or showed much lower mutation frequencies...
  66. ncbi Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2
    B B Roa
    Baylor DNA Diagnostic Laboratory, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 14:185-7. 1996
    BRCA1 and BRCA2 are the two major identified causes of inherited breast cancer, with mutations in either gene conferring up to 80-90% lifetime risk of breast cancer in carrier females...
  67. pmc The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population
    Vida Stegel
    Department of Molecular Diagnostics, Institute of Oncology Ljubljana, Zaloska 2, 1000 Ljubljana, Slovenia
    BMC Med Genet 12:9. 2011
    the BRCA1 and BRCA2 mutation spectrum and mutation detection rates according to different family histories were investigated in 521 subjects from 322 unrelated Slovenian cancer families with breast and/or ovarian cancer.
  68. ncbi RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2
    A K Wong
    Myriad Genetics, Inc, Salt Lake City, Utah 84108, USA
    J Biol Chem 272:31941-4. 1997
    Recent work has shown that the murine BRCA2 tumor suppressor protein interacts with the murine RAD51 protein. This interaction suggests that BRCA2 participates in DNA repair...
  69. ncbi Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers
    D G Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    J Med Genet 46:593-7. 2009
    ..To assess the effectiveness of annual ovarian cancer screening (transvaginal ultrasound and serum CA125 estimation) in reducing mortality from ovarian cancer in women at increased genetic risk...
  70. doi Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer
    Shiyu Zhang
    Women s College Research Institute, University of Toronto, 790 Bay Street, 7th Floor, Toronto, ON, Canada M5G 1N8
    Gynecol Oncol 121:353-7. 2011
    ..Most inherited cases of ovarian cancer are due to a germline mutation in BRCA1 or BRCA2. It is important to have an accurate estimate of the proportion of ovarian cancer patients who carry a mutation ..
  71. pmc Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients
    Eunjung Lee
    Department of Preventive Medicine, Keck School of Medicine, University of Southern California, 1441 Eastlake Avenue, USC Norris Comprehensive Cancer Center, Los Angeles, CA 90089 9175, USA
    Breast Cancer Res 10:R19. 2008
    ..to determine the significance of unclassified variants (UVs) in the breast cancer susceptibility genes BRCA1/BRCA2, but no study has systematically assessed whether women carrying the suspected deleterious UVs have ..
  72. pmc Rad51 overexpression rescues radiation resistance in BRCA2-defective cancer cells
    Erika T Brown
    Department of Pathology, University of Colorado Health Sciences Center, RC 1 South Tower, 12801 East 17th Avenue, Aurora, Colorado 80010 7163, USA
    Mol Carcinog 48:105-9. 2009
    Breast cancers with BRCA2 mutations exhibit DNA repair defects and are particularly sensitive to radiation...
  73. pmc The BRCA2 gene product functionally interacts with p53 and RAD51
    L Y Marmorstein
    The Derald H Ruttenberg Cancer Center, The Mount Sinai Medical Center, One Gustave L Levy Place, New York, NY 10029, USA
    Proc Natl Acad Sci U S A 95:13869-74. 1998
    Germ-line mutations in the human BRCA2 gene confer susceptibility to breast cancer. Efforts to elucidate its function have revealed a putative transcriptional activation domain and in vitro interaction with the DNA repair protein RAD51...
  74. doi BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy
    Laura Ottini
    Department of Experimental Medicine, University of Rome La Sapienza, 00161 Rome, Italy
    Breast Cancer Res Treat 116:577-86. 2009
    ..The strongest genetic risk factor for MBC is represented by inherited BRCA2 mutations, whereas the association between MBC and BRCA1 mutations is less clear...
  75. ncbi Distant disease-free interval, site of first relapse and post-relapse survival in BRCA1- and BRCA2-associated compared to sporadic breast cancer patients
    Mieke Kriege
    Department of Medical Oncology, Rotterdam Family Cancer Clinic, Erasmus MC Daniel den Hoed Cancer Center, Groene Hilledijk 301, 3075 EA, Rotterdam, The Netherlands
    Breast Cancer Res Treat 111:303-11. 2008
    Data on distant disease-free interval (DDFI) and the localization of the first distant metastasis (DM) in BRCA1- and BRCA2-associated breast cancer (BC) patients are as yet scarcely available.
  76. ncbi The relationship between the roles of BRCA genes in DNA repair and cancer predisposition
    Andrew Tutt
    The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK
    Trends Mol Med 8:571-6. 2002
    The proteins encoded by the breast-cancer-susceptibility genes, BRCA1 and BRCA2, have recently been implicated in DNA-repair processes, thereby improving our understanding of how the loss of these genes contributes to cancer initiation ..
  77. ncbi FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3
    J B Wilson
    Molecular Oncology and Stem Cell Research Group, School of Biological Sciences, University of Liverpool, Liverpool, UK
    Oncogene 27:3641-52. 2008
    ..FANCD2, like FANCD1/BRCA2, is not part of the core complex, and we previously showed direct BRCA2-FANCD2 interaction using yeast two-..
  78. ncbi M phase-specific phosphorylation of BRCA2 by Polo-like kinase 1 correlates with the dissociation of the BRCA2-P/CAF complex
    Horng Ru Lin
    Department of Molecular Medicine, Institute of Biotechnology, University of Texas Health Science Center, San Antonio, Texas 78245, USA
    J Biol Chem 278:35979-87. 2003
    b>BRCA2 is a breast tumor susceptibility gene encoding a 390-kDa protein with functions in maintaining genomic stability and cell cycle progression...
  79. doi The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal
    Ana Peixoto
    Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 072, Porto, Portugal
    Breast Cancer Res Treat 114:31-8. 2009
    We evaluated the contribution of an Alu insertion in BRCA2 exon 3 (c.156_157insAlu) to inherited predisposition to breast/ovarian cancer in 208 families originated mostly from northern/central Portugal. We identified the c...
  80. doi The contribution of BRCA1 and BRCA2 to ovarian cancer
    Susan J Ramus
    Gynaecological Cancer Research Laboratory, UCL EGA Institute for Women s Health, Paul O Gorman Building, University College London, 72 Huntley Street, London, United Kingdom
    Mol Oncol 3:138-50. 2009
    Germline mutations of the BRCA1 and BRCA2 genes confer a high life-time risk of ovarian cancer. They represent the most significant and well characterised genetic risk factors so far identified for the disease...
  81. pmc Structural basis for recruitment of BRCA2 by PALB2
    Antony W Oliver
    Cancer Research UK DNA Repair Enzymes Group, Section of Structural Biology, 237 Fulham Road, London SW3 6JB, UK
    EMBO Rep 10:990-6. 2009
    The breast cancer 2, early onset protein (BRCA2) is central to the repair of DNA damage by homologous recombination...
  82. ncbi Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients
    Irene Konstantopoulou
    Molecular Diagnostics Laboratory, I R RP, National Center for Scientific Research Demokritos, Athens, Greece
    Breast Cancer Res Treat 107:431-41. 2008
    ..Our results indicated 16 and 5 breast/ovarian cancer families bearing deleterious mutations in the BRCA1 and BRCA2 genes, respectively. Two novel BRCA2 germline mutations (G4X and 3783del10) are reported here for the first time...
  83. doi Prediction of BRCA2-association in hereditary breast carcinomas using array-CGH
    Simon A Joosse
    Division of Experimental Therapy, The Netherlands Cancer Institute NKI AvL, Plesmanlaan 121, 1066CX Amsterdam, The Netherlands
    Breast Cancer Res Treat 132:379-89. 2012
    ..Although current DNA diagnostics is able to identify many different mutations, it remains unclear, how many BRCA2-associated breast cancer cases remain unidentified as such...
  84. ncbi One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden
    S Malander
    Department of Oncology, The Jubileum Institution, University Hospital, 221 85 Lund, Sweden
    Eur J Cancer 40:422-8. 2004
    ..We report here the results of a full mutational screening analysis for germ line BRCA1 and BRCA2 mutations in 161 patients with invasive epithelial ovarian carcinomas...
  85. ncbi BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure
    Haijuan Yang
    Department of Pharmacology, Sloan Kettering Division, Joan and Sanford I Weill Graduate School of Medical Sciences, Cornell University, New York, NY 10021, USA
    Science 297:1837-48. 2002
    Mutations in the BRCA2 (breast cancer susceptibility gene 2) tumor suppressor lead to chromosomal instability due to defects in the repair of double-strand DNA breaks (DSBs) by homologous recombination, but BRCA2's role in this process ..
  86. ncbi The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain
    Roger L Milne
    Unidad de Genotipación CEGEN and Grupo de Genética Humana, Programa de Genética del Cáncer Humano, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
    Clin Cancer Res 14:2861-9. 2008
    It is not clear that the published estimates of the breast and ovarian cancer penetrances of mutations in BRCA1 and BRCA2 can be used in genetic counseling in countries such as Spain, where the incidence of breast cancer in the general ..
  87. pmc Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
    Am J Hum Genet 82:937-48. 2008
    Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families...
  88. ncbi Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2
    S K Sharan
    Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 386:804-10. 1997
    Inherited mutations in the human BRCA2 gene cause about half of the cases of early-onset breast cancer...
  89. pmc RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK
    Am J Hum Genet 81:1186-200. 2007
    RAD51 is an important component of double-stranded DNA-repair mechanisms that interacts with both BRCA1 and BRCA2. A single-nucleotide polymorphism (SNP) in the 5' untranslated region (UTR) of RAD51, 135G-->C, has been suggested as a ..
  90. pmc The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment
    P L Chen
    Department of Molecular Medicine and Institute of Biotechnology, University of Texas Health Science Center, San Antonio, TX 78245, USA
    Proc Natl Acad Sci U S A 95:5287-92. 1998
    The BRCA2 gene was identified based on its involvement in familial breast cancer...
  91. ncbi Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada
    Harvey A Risch
    Department of Epidemiology and Public Health, Yale University School of Medicine, 60 College St, PO Box 208034, New Haven, CT 06520 8034, USA
    J Natl Cancer Inst 98:1694-706. 2006
    BRCA1 and BRCA2 mutations in general populations and in various types of cancers have not been well characterized...
  92. pmc Variation of breast cancer risk among BRCA1/2 carriers
    Colin B Begg
    Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    JAMA 299:194-201. 2008
    The risk of breast cancer in BRCA1 and BRCA2 mutation carriers has been examined in many studies, but relatively little attention has been paid to the degree to which the risk may vary among carriers.
  93. pmc Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis
    S M Edwards
    Oncogenetics team, Section of Cancer Genetics, Institute of Cancer Research, Sutton SM2 5PT, UK
    Br J Cancer 103:918-24. 2010
    The germline BRCA2 mutation is associated with increased prostate cancer (PrCa) risk. We have assessed survival in young PrCa cases with a germline mutation in BRCA2 and investigated loss of heterozygosity at BRCA2 in their tumours.
  94. ncbi Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk
    C T Brekelmans
    Department of Medical Oncology, Family Cancer Clinic, Dr Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
    J Clin Oncol 19:924-30. 2001
    ..The effectiveness of surveillance in high-risk women and especially BRCA1/2 mutation carriers is unknown. We present first results from a single large family cancer clinic...
  95. ncbi EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer
    Luke Hughes-Davies
    Cancer Research UK Wellcome Trust Institute and Department of Pathology, Tennis Court Road, Cambridge CB2 1QR, United Kingdom
    Cell 115:523-35. 2003
    The BRCA2 gene is mutated in familial breast and ovarian cancer, and its product is implicated in DNA repair and transcriptional regulation. Here we identify a protein, EMSY, which binds BRCA2 within a region (exon 3) deleted in cancer...
  96. ncbi Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13
    R Wooster
    Section of Molecular Carcinogenesis, Institute of Cancer Research, Sutton, Surrey, UK
    Science 265:2088-90. 1994
    ..This analysis localized a second breast cancer susceptibility locus, BRCA2, to a 6-centimorgan interval on chromosome 13q12-13...
  97. ncbi Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil
    Magda C B Gomes
    Department of Oncology, Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
    Breast Cancer Res Treat 103:349-53. 2007
    The contribution of BRCA1 and BRCA2 to breast cancer incidence in Brazil has not yet been explored...
  98. ncbi ERBB2, TBX2, RPS6KB1, and MYC alterations in breast tissues of BRCA1 and BRCA2 mutation carriers
    Camilo Adem
    Division of Laboratory Genetics, Mayo Clinic and Foundation, Rochester, Minnesota, USA
    Genes Chromosomes Cancer 41:1-11. 2004
    Breast cancer risk is greatly increased in women who carry mutations in the BRCA1 or BRCA2 genes...
  99. pmc Novel de novo BRCA2 mutation in a patient with a family history of breast cancer
    Thomas V O Hansen
    Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark
    BMC Med Genet 9:58. 2008
    b>BRCA2 germ-line mutations predispose to breast and ovarian cancer. Mutations are widespread and unclassified splice variants are frequently encountered...
  100. pmc The BRC repeats of BRCA2 modulate the DNA-binding selectivity of RAD51
    Aura Carreira
    Department of Microbiology, University of California, Davis, CA 95616, USA
    Cell 136:1032-43. 2009
    The breast cancer susceptibility protein, BRCA2, is essential for recombinational DNA repair...
  101. ncbi Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India
    Suresh Hedau
    Division of Molecular Oncology, Institute of Cytology and Preventive Oncology ICMR, Maulana Azad Medical College Campus, New Delhi, 110 002, India
    Breast Cancer Res Treat 88:177-86. 2004
    Mutations in breast cancer susceptibility genes, BRCA1 and BRCA2 account for more than 80% of hereditary breast and ovarian cancers...

Research Grants109 found, 100 shown here

  1. Obesity susceptibility loci and breast cancer risk in BRCA1 and BRCA2 mutation ca
    JONATHAN ANDREW MITCHELL; Fiscal Year: 2013
    ..lead involves investigating if genetic predisposition to obesity modifies breast cancer risk in female BRCA1 and BRCA2 mutation carriers...
  2. Consortium Study to Identify Breast Cancer Susceptibility Loci
    Wei Zheng; Fiscal Year: 2013
    ..genetic factors, along with high-penetrance susceptibility genes reported previously (such as the BRCA1 and BRCA2 genes), explain only a small fraction of genetic variation for breast cancer...
  3. Consortium Study to Identify Breast Cancer Susceptibility Loci
    Wei Zheng; Fiscal Year: 2012
    ..genetic factors, along with high-penetrance susceptibility genes reported previously (such as the BRCA1 and BRCA2 genes), explain only a small fraction of genetic variation for breast cancer...
  4. BRCA1 and Familial Pancreatic Cancer
    Alison Klein; Fiscal Year: 2007
    ..Inherited mutations in the BRCA2 gene account for 1 in 6 cases of familial pancreatic cancer cases and 1 in 14 cases of apparently sporadic ..
  5. BRCA1 and Familial Pancreatic Cancer
    Alison Klein; Fiscal Year: 2006
    ..Inherited mutations in the BRCA2 gene account for 1 in 6 cases of familial pancreatic cancer cases and 1 in 14 cases of apparently sporadic ..
  6. Defining the role of proteostasis pathways in cancer drug resistance
    ERICA LYNN CAIN; Fiscal Year: 2013
    ..of drug resistance in a cancer population is resistance to Poly ADP-Ribose Polymerase (PARP) inhibitors (PARPi) in BRCA2-deficient cancers. Both Breast Cancer 2 susceptibility protein (BRCA2) and PARP1 function in DNA repair...
  7. Connections and redundancy in the BRCA1-BRCA2 pathway of homologous recombination
    Simon N Powell; Fiscal Year: 2013
    ..by applicant): The DNA damage response and DNA repair defects found in cells with a deficiency of the BRCA1 or BRCA2 protein have been extensively characterized in the last decade...
  8. Determining the role of RAD51AP1: a new gene in DNA repair and genomic stability
    David Schild; Fiscal Year: 2009
    ..Importantly, HRR is impaired in brca2 cells and the BRCA2 protein, like RAD51AP1, directly interacts with RAD51...
  9. Determining the role of RAD51AP1: a new gene in DNA repair and genomic stability
    David Schild; Fiscal Year: 2010
    ..Importantly, HRR is impaired in brca2 cells and the BRCA2 protein, like RAD51AP1, directly interacts with RAD51...
  10. Mechanisms of Carcinogenesis in BRCA2 Mutant Cells
    Jeffrey Holt; Fiscal Year: 2004
    The BRCA2 gene is a cancer predisposition gene, which is matured in breast cancer, prostate cancer, ovarian cancer, esophageal cancer , and pancreatic cancer...
  11. Mechanisms of Carcinogenesis in BRCA2 Mutant Cells
    Jeffrey Holt; Fiscal Year: 2002
    The BRCA2 gene is a cancer predisposition gene, which is matured in breast cancer, prostate cancer, ovarian cancer, esophageal cancer , and pancreatic cancer...
  12. Mechanisms of Carcinogenesis in BRCA2 Mutant Cells
    Jeffrey Holt; Fiscal Year: 2001
    The BRCA2 gene is a cancer predisposition gene, which is matured in breast cancer, prostate cancer, ovarian cancer, esophageal cancer , and pancreatic cancer...
  13. Mechanisms of Carcinogenesis in BRCA2 Mutant Cells
    Jeffrey Holt; Fiscal Year: 2003
    The BRCA2 gene is a cancer predisposition gene, which is matured in breast cancer, prostate cancer, ovarian cancer, esophageal cancer , and pancreatic cancer...
  14. Mechanisms of Carcinogenesis in BRCA2 Mutant Cells
    Jeffrey Holt; Fiscal Year: 2002
    The BRCA2 gene is a cancer predisposition gene, which is matured in breast cancer, prostate cancer, ovarian cancer, esophageal cancer , and pancreatic cancer...
  15. Mechanisms of Carcinogenesis in BRCA2 Mutant Cells
    Jeffrey Holt; Fiscal Year: 2005
    The BRCA2 gene is a cancer predisposition gene, which is matured in breast cancer, prostate cancer, ovarian cancer, esophageal cancer , and pancreatic cancer...
  16. ROLES OF BRCA1 AND BRCA2 IN BREAST CARCINOGENESIS
    Daniel Silver; Fiscal Year: 2003
    The recently isolated tumor suppressor genes, BRCA1 and BRCA2, appear to play key roles in preventing breast and ovarian carcinoma...
  17. ROLES OF BRCA1 AND BRCA2 IN BREAST CARCINOGENESIS
    Daniel Silver; Fiscal Year: 2002
    The recently isolated tumor suppressor genes, BRCA1 and BRCA2, appear to play key roles in preventing breast and ovarian carcinoma...
  18. ROLES OF BRCA1 AND BRCA2 IN BREAST CARCINOGENESIS
    Daniel Silver; Fiscal Year: 1999
    The recently isolated tumor suppressor genes, BRCA1 and BRCA2, appear to play key roles in preventing breast and ovarian carcinoma...
  19. ROLES OF BRCA1 AND BRCA2 IN BREAST CARCINOGENESIS
    Daniel Silver; Fiscal Year: 2001
    The recently isolated tumor suppressor genes, BRCA1 and BRCA2, appear to play key roles in preventing breast and ovarian carcinoma...
  20. ROLES OF BRCA1 AND BRCA2 IN BREAST CARCINOGENESIS
    Daniel Silver; Fiscal Year: 2000
    The recently isolated tumor suppressor genes, BRCA1 and BRCA2, appear to play key roles in preventing breast and ovarian carcinoma...
  21. Mechanistic Studies of BRCA2-RAD51 Mediated DNA Repair
    Erika Brown; Fiscal Year: 2003
    ..Her studies have shown that the DNA repair protein RAD51, which associates with the protein BRCA2, fails to move from the cytoplasm into the nucleus after induction of double-strand DNA breaks in BRCA2-defective ..
  22. Mechanistic Studies of BRCA2-RAD51 Mediated DNA Repair
    Erika Brown; Fiscal Year: 2006
    ..Her studies have shown that the DNA repair protein RAD51, which associates with the protein BRCA2, fails to move from the cytoplasm into the nucleus after induction of double-strand DNA breaks in BRCA2-defective ..
  23. Mechanistic Studies of BRCA2-RAD51 Mediated DNA Repair
    Erika Brown; Fiscal Year: 2005
    ..Her studies have shown that the DNA repair protein RAD51, which associates with the protein BRCA2, fails to move from the cytoplasm into the nucleus after induction of double-strand DNA breaks in BRCA2-defective ..
  24. Mechanistic Studies of BRCA2-RAD51 Mediated DNA Repair
    Erika Brown; Fiscal Year: 2002
    ..Her studies have shown that the DNA repair protein RAD51, which associates with the protein BRCA2, fails to move from the cytoplasm into the nucleus after induction of double-strand DNA breaks in BRCA2-defective ..
  25. Mechanistic Studies of BRCA2-RAD51 Mediated DNA Repair
    Erika Brown; Fiscal Year: 2004
    ..Her studies have shown that the DNA repair protein RAD51, which associates with the protein BRCA2, fails to move from the cytoplasm into the nucleus after induction of double-strand DNA breaks in BRCA2-defective ..
  26. Adherence to Cancer Risk Management Among Unaffected BRCA1/2Mutation Carriers
    Adam H Buchanan; Fiscal Year: 2011
    DESCRIPTION (provided by applicant): Inherited mutations in the BRCA1 and BRCA2 genes lead to significantly increased cancer risks (up to 66% and 46% for lifetime breast and ovarian cancer risks, respectively)...
  27. Exploration of Genome Stability as a Therapeutic Target in Cancer
    Rahul Nene; Fiscal Year: 2013
    ..The success of poly(ADP-ribose) polymerase (PARP) inhibitors against cancers with defects in the BRCA1 and BRCA2 genes demonstrates that a synthetic lethality inspired approach can be successful in the context of defects in ..
  28. BRCA1 and BRCA2 missense mutations and breast cancer risk
    FERGUS JOSEPH COUCH; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Women with germline inactivating mutations in the BRCA1 and BRCA2 genes are at significantly elevated risk of breast and ovarian cancer...
  29. Risk Assessment for Carriers of Variants of Uncertain Significance (VUS)
    FERGUS JOSEPH COUCH; Fiscal Year: 2012
    Women who carry inactivating mutations in the BRCAI and BRCA2 genes in their germline are at of significantly elevated risk of breast and ovarian cancer...
  30. Mutational analysis of mammary tumor suppressor genes
    Thomas Ludwig; Fiscal Year: 2003
    Germline mutations in the BRCA1 and BRCA2 genes account for 70-80% of hereditary breast and ovarian cancers. Both are thought to be tumor suppressor genes as the wild-type alleles are lost in tumors of heterozygous carriers...
  31. Genetics of Breast Cancer in Blacks
    Olufunmilayo Olopade; Fiscal Year: 2004
    ..With the cloning of BRCA1 and BRCA2 genes, there is an urgent need to identify mutations among different ethnic populations in order to study mutation ..
  32. Genetics of Breast Cancer in Blacks
    Olufunmilayo Olopade; Fiscal Year: 2005
    ..With the cloning of BRCA1 and BRCA2 genes, there is an urgent need to identify mutations among different ethnic populations in order to study mutation ..
  33. Genetics of Breast Cancer in Blacks
    Olufunmilayo Olopade; Fiscal Year: 2003
    ..With the cloning of BRCA1 and BRCA2 genes, there is an urgent need to identify mutations among different ethnic populations in order to study mutation ..
  34. Genetics of Breast Cancer in Blacks
    Olufunmilayo Olopade; Fiscal Year: 2006
    ..With the cloning of BRCA1 and BRCA2 genes, there is an urgent need to identify mutations among different ethnic populations in order to study mutation ..
  35. Genetics of Breast Cancer in Blacks
    Olufunmilayo Olopade; Fiscal Year: 2002
    ..With the cloning of BRCA1 and BRCA2 genes, there is an urgent need to identify mutations among different ethnic populations in order to study mutation ..
  36. PROPHYLACTIC SURGERY IN CARRIERS OF BRCA1 AND BRCA2
    Timothy Rebbeck; Fiscal Year: 2001
    ..from the Investigator's Abstract) The availability of genetic testing for inherited mutations in the BRCA1 and BRCA2 genes provides potentially valuable information to women at high risk of breast or ovarian cancer...
  37. PROPHYLACTIC SURGERY IN CARRIERS OF BRCA1 AND BRCA2
    Timothy Rebbeck; Fiscal Year: 2002
    ..from the Investigator's Abstract) The availability of genetic testing for inherited mutations in the BRCA1 and BRCA2 genes provides potentially valuable information to women at high risk of breast or ovarian cancer...
  38. PROPHYLACTIC SURGERY IN CARRIERS OF BRCA1 AND BRCA2
    Timothy Rebbeck; Fiscal Year: 2004
    ..from the Investigator's Abstract) The availability of genetic testing for inherited mutations in the BRCA1 and BRCA2 genes provides potentially valuable information to women at high risk of breast or ovarian cancer...
  39. PROPHYLACTIC SURGERY IN CARRIERS OF BRCA1 AND BRCA2
    Timothy Rebbeck; Fiscal Year: 2000
    ..from the Investigator's Abstract) The availability of genetic testing for inherited mutations in the BRCA1 and BRCA2 genes provides potentially valuable information to women at high risk of breast or ovarian cancer...
  40. PROPHYLACTIC SURGERY IN CARRIERS OF BRCA1 AND BRCA2
    Timothy Rebbeck; Fiscal Year: 2003
    ..from the Investigator's Abstract) The availability of genetic testing for inherited mutations in the BRCA1 and BRCA2 genes provides potentially valuable information to women at high risk of breast or ovarian cancer...
  41. Analysis of BRCA1 Function in DNA Repair
    Junjie Chen; Fiscal Year: 2002
    ..abstract) More than 50 percent of familial breast and ovarian cancer are due to mutations of BRCA1 or BRCA2 genes...
  42. Analysis of BRCA1 Function in DNA Repair
    Junjie Chen; Fiscal Year: 2005
    ..abstract) More than 50 percent of familial breast and ovarian cancer are due to mutations of BRCA1 or BRCA2 genes...
  43. Analysis of BRCA1 Function in DNA Repair
    Junjie Chen; Fiscal Year: 2003
    ..abstract) More than 50 percent of familial breast and ovarian cancer are due to mutations of BRCA1 or BRCA2 genes...
  44. Analysis of BRCA1 Function in DNA Repair
    Junjie Chen; Fiscal Year: 2004
    ..abstract) More than 50 percent of familial breast and ovarian cancer are due to mutations of BRCA1 or BRCA2 genes...
  45. Analysis of BRCA1 Function in DNA Repair
    Junjie Chen; Fiscal Year: 2001
    ..abstract) More than 50 percent of familial breast and ovarian cancer are due to mutations of BRCA1 or BRCA2 genes...
  46. GENETIC EPIDEMIOLOGY OF BREAST CANCER--BRCA1 AND BRCA2
    Susan Neuhausen; Fiscal Year: 2001
    ..80 percent of inherited early onset breast cancer is attributed to the breast cancer genes, BRCA1 and BRCA2. Among families with the same BRCA1 (BRCA2) mutations, there are differences in age-specific penetrance, lifetime ..
  47. GENETIC EPIDEMIOLOGY OF BREAST CANCER--BRCA1 AND BRCA2
    Susan Neuhausen; Fiscal Year: 1999
    ..80 percent of inherited early onset breast cancer is attributed to the breast cancer genes, BRCA1 and BRCA2. Among families with the same BRCA1 (BRCA2) mutations, there are differences in age-specific penetrance, lifetime ..
  48. GENETIC EPIDEMIOLOGY OF BREAST CANCER--BRCA1 AND BRCA2
    Susan Neuhausen; Fiscal Year: 2000
    ..80 percent of inherited early onset breast cancer is attributed to the breast cancer genes, BRCA1 and BRCA2. Among families with the same BRCA1 (BRCA2) mutations, there are differences in age-specific penetrance, lifetime ..
  49. GENETIC EPIDEMIOLOGY OF BREAST CANCER--BRCA1 AND BRCA2
    Susan Neuhausen; Fiscal Year: 2002
    ..80 percent of inherited early onset breast cancer is attributed to the breast cancer genes, BRCA1 and BRCA2. Among families with the same BRCA1 (BRCA2) mutations, there are differences in age-specific penetrance, lifetime ..
  50. PHENOTYPIC RISK MARKERS IN BRCA1 MUTATION CARRIERS
    Gail Tomlinson; Fiscal Year: 2001
    The identification of the two major breast cancer predisposition genes, BRCA1 and BRCA2, has heralded an era of genetic risk assessment which in turn has helped to facilitate the development of new strategies for early detection and ..
  51. PHENOTYPIC RISK MARKERS IN BRCA1 MUTATION CARRIERS
    Gail Tomlinson; Fiscal Year: 2002
    The identification of the two major breast cancer predisposition genes, BRCA1 and BRCA2, has heralded an era of genetic risk assessment which in turn has helped to facilitate the development of new strategies for early detection and ..
  52. Role of PALB2 in the DNA damage response and breast cancer suppression
    Bing Xia; Fiscal Year: 2013
    Heterozygous germline mutations in BRCA2 predispose female carriers to breast cancer and also lead to increased risks of ovarian, male breast, prostate, and pancreatic cancers...
  53. Role of PALB2 in the DNA damage response and breast cancer suppression
    Bing Xia; Fiscal Year: 2012
    Heterozygous germline mutations in BRCA2 predispose female carriers to breast cancer and also lead to increased risks of ovarian, male breast, prostate, and pancreatic cancers...
  54. Role of PALB2 in the DNA damage response and breast cancer suppression
    Bing Xia; Fiscal Year: 2013
    Heterozygous germline mutations in BRCA2 predispose female carriers to breast cancer and also lead to increased risks of ovarian, male breast, prostate, and pancreatic cancers...
  55. LOH at BRCA1/BRCA2 Loci in Mutation Carriers as a Precursor to Breast Tumorigenes
    MARK BRENNEMAN; Fiscal Year: 2009
    Women who carry mutations in the BRCA1 or BRCA2 tumor suppressor genes are at extreme risk for breast cancer. BRCA1 or BRCA2 mutation carriers are heterozygous, but their breast tumors typically show loss of heterozygosity (LOH), i.e...
  56. LOH at BRCA1/BRCA2 Loci in Mutation Carriers as a Precursor to Breast Tumorigenes
    Mark A Brenneman; Fiscal Year: 2010
    Women who carry mutations in the BRCA1 or BRCA2 tumor suppressor genes are at extreme risk for breast cancer. BRCA1 or BRCA2 mutation carriers are heterozygous, but their breast tumors typically show loss of heterozygosity (LOH), i.e...
  57. BRCA2 model system
    William K Holloman; Fiscal Year: 2010
    ..Among this constellation of Rad51-interacting proteins the master regulator is BRCA2, the product of a breast cancer susceptibility gene...
  58. Validation of an Antibody Test for Early Diagnosis of Ovarian Cancer
    Michael A Tainsky; Fiscal Year: 2013
    ..This results in about 14,000 deaths per year in the US. About 1 in 200 women in North America carries BRCA1 or BRCA2 mutations and 5 million women with a family history of ovarian cancer in a first or second degree relative...
  59. A novel model system for risk assessment of BRCA carriers
    RORY LANDON COCHRAN; Fiscal Year: 2013
    ..It is believed that the breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2, account for the majority of germ-line mutations in families with a genetic predisposition for developing breast ..
  60. PROGNOSIS AND PATHOLOGY OF HEREDITARY BREAST CANCER
    Pamela Goodwin; Fiscal Year: 2001
    ..and pathologic characteristics of breast cancers occurring in women who have germline mutations in BRCA1 and BRCA2. Prognostic effects will be examined by obtaining clinical, treatment and follow-up information on women who are ..
  61. GENETIC MODIFIERS OF BRCA PENETRANCE IN ASHKENAZIM
    Kenneth Offit; Fiscal Year: 2001
    ..of this proposal is that the predisposition to breast cancer conferred by a germline mutation in BRCA1 or BRCA2 is subject to modulation by genetic cofactors...
  62. Genes, environment and breast cancer risk: The 15 year follow-up of the Prof-SC
    Mary Beth Terry; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): The discovery of BRCA1 and BRCA2 has resulted in more appropriate targeting of preventive and screening strategies for breast cancer...
  63. BRCA2 Hereditary Ovarian Cancer Tissue Truncation Test
    Jeffrey T Holt; Fiscal Year: 2010
    ..II proposal, 2R42CA124191-02, which received a priority score of 181, to develop a tissue-based genetic test for BRCA2 hereditary ovarian cancer...
  64. BRCA2 Hereditary Ovarian Cancer Tissue Truncation Test
    Jeffrey Holt; Fiscal Year: 2009
    ..II proposal, 2R42CA124191-02, which received a priority score of 181, to develop a tissue-based genetic test for BRCA2 hereditary ovarian cancer...
  65. Development of a BRCA Breast Cancer Diagnostic Test
    Jeffrey Holt; Fiscal Year: 2007
    ..This proposal aims to develop a tissue-based genetic test for BRCA2 hereditary breast cancer using a tissue-based IHC method...
  66. BRCA2 Hereditary Ovarian Cancer Tissue Truncation Test
    Jeffrey Holt; Fiscal Year: 2007
    ..revision of a Phase I STTR proposal that received a score of 177, to develop a tissue-based genetic test for BRCA2 hereditary ovarian cancer...
  67. Novel Diagnostics to Detect Lung Injury
    Elizabeth R Jacobs; Fiscal Year: 2013
    ..metabolic coenzymes Nicotinamide Adenine Dinucleotide (reduced form is NADH) and Flavine Adenine Dinucleotide (FAD) are the primary electron carriers in oxidative phosphorylation...
  68. Mitoenergetic Failure in Brain Aging
    Gregory J Brewer; Fiscal Year: 2012
    ..higher levels of ROS with lower glutathione antioxidant and maintain a more oxidized redox potential [ NAD(P)H / FAD ], all of which contribute to increased susceptibility to toxic stressors such as glutamate and beta-amyloid...
  69. Employing Familial AD Induced Pluripotent Stem Cells to Study Neurodegeneration
    Suman Jayadev; Fiscal Year: 2013
    ..2 (PSEN2) deficiency is associated with an exaggerated pro-inflammatory response in microglia and that the fAD associated PSEN2 N141I mutation leads to decreased gamma- secretase activity in microglia...
  70. Disclosing Genomic Incidental Findings in a Cancer Biobank: An ELSI Experiment
    Susan M Wolf; Fiscal Year: 2013
    ..germline carriers of mutations in genes known to confer increased risk of diseases other than pancreatic cancer: BRCA2 (breast &ovarian cancer), CDKN2A/p16 (malignant melanoma), and CFTR (cystic fibrosis in offspring)...
  71. TGF-beta polymorphisms and breast cancer in families
    Boris Pasche; Fiscal Year: 2013
    ..Validated SNPs will be further examined by the Consortium of Investigators of Modifiers of BRCA1 and BRCA2. To search for the causal variant(s) we will 1) re-sequence the validated region(s) in 200 patients that carry the ..
  72. Presenilin1/g-secretase regulate miRNAs and neuronal survival
    Nikolaos K Robakis; Fiscal Year: 2013
    ..Reduction in brain glucose metabolism is also observed in familial AD (FAD) patients and may occur years before disease onset in carriers of presenilin-1 (PS1) FAD mutations implicating PS1 ..
  73. Regulation of the Mono-Ubiquitination of the Fanconi Anemia D2 Protein
    NIALL GEORGE HOWLETT; Fiscal Year: 2012
    ..The FA proteins function cooperatively with the tumor suppressor proteins BRCA1 and BRCA2 (FANCD1) in the FA- BRCA pathway to repair damaged DNA and to prevent cellular transformation...
  74. Presenilins and neuronal calcium dyshomeostasis
    ILYA B BEZPROZVANNY; Fiscal Year: 2013
    ..Missense mutations in presenilins account for 40% of familial AD (FAD) cases...
  75. Central and endocrine stress pathway contributions to Alzheimers Disease
    Nicholas J Justice; Fiscal Year: 2013
    ..First, I plan to characterize aging mice carrying Familial Alzheimer's Disease (FAD) mutations that acquire AD pathologies, for changes in anxiety related behavior, HPA axis function, and molecular ..
  76. Characterization of an FAD pathogenic PS1 mutation with complete loss of activity
    HANNAH LOUISE BRAUTIGAM; Fiscal Year: 2013
    ..Rare, autosomal dominant familial forms of AD (FAD) have provided us with most of what is currently known of the molecular basis of the disease...
  77. FASEB SRC: Genetic Recombination and Genome Rearrangements
    Wolf Dietrich Heyer; Fiscal Year: 2013
    ..Several timely issues will be discussed, including the role of the breast cancer susceptibility gene BRCA2 in the control of recombination and the role of recombination in repair of DNA damage caused by cancer treatment ..
  78. The contribution of rare alleles to ovarian cancer in the population
    Susan J Ramus; Fiscal Year: 2013
    ..Germline mutations in the high- penetrance susceptibility genes BRCA1 and BRCA2 confer EOC risks of around 50% by age 70...
  79. Peripheral Biomarkers in Familial Alzheimer's Disease
    Paul Coleman; Fiscal Year: 2009
    ..In this proposal we focus largely on the mutated gene for PS1 since it is a frequently mutated gene among the FAD gene mutations...
  80. Towards a Model of Fanconi Anemia
    BEVERLY JO TOROK STORB; Fiscal Year: 2010
    ..We plan to optimize the methods for culture, genetic manipulation, and transplantation of SSC in dogs, and to use this technology to set the stage for producing a canine model of Fanconi Anemia. ..
  81. Towards a Model of Fanconi Anemia
    Akiko Shimamura; Fiscal Year: 2009
    ..We plan to optimize the methods for culture, genetic manipulation, and transplantation of SSC in dogs, and to use this technology to set the stage for producing a canine model of Fanconi Anemia. ..
  82. STRUCTURAL DETERMINANTS OF FAD AND FMN REQUIRING ENZYMES
    Bettie Sue Masters; Fiscal Year: 2000
    ..NADPH-cytochrome P450 reductase (CPR) is a membrane-bound flavoprotein and requires derivatives of riboflavin, both FAD and FMN, for the transfer of electrons to the various cytochromes P450 (P450s) localized in the endoplasmic ..
  83. STRUCTURAL DETERMINANTS OF FAD AND FMN REQUIRING ENZYMES
    Bettie Sue Masters; Fiscal Year: 1999
    ..NADPH-cytochrome P450 reductase (CPR) is a membrane-bound flavoprotein and requires derivatives of riboflavin, both FAD and FMN, for the transfer of electrons to the various cytochromes P450 (P450s) localized in the endoplasmic ..
  84. STRUCTURAL DETERMINANTS OF FAD AND FMN REQUIRING ENZYMES
    Bettie Sue Masters; Fiscal Year: 2001
    ..NADPH-cytochrome P450 reductase (CPR) is a membrane-bound flavoprotein and requires derivatives of riboflavin, both FAD and FMN, for the transfer of electrons to the various cytochromes P450 (P450s) localized in the endoplasmic ..
  85. FAA AND FAD GENES AND PROTEINS
    Manuel Buchwald; Fiscal Year: 1999
    ..and confirmed its identity by the identification of mutations in FA-A cells; he also has a strong candidate for the FAD gene...
  86. STRUCTURAL DETERMINANTS OF FAD and FMN-REQUIRING ENZYMES
    Bettie Sue Masters; Fiscal Year: 2004
    This proposal emanates from the interests of the Principal Investigator in flavoproteins containing both FAD and FMN as prosthetic groups, extending from her early studies on NADPI-I-cytochrome P450 reductase (CYPOR) to the three nitric ..
  87. STRUCTURAL DETERMINANTS OF FAD and FMN-REQUIRING ENZYMES
    Bettie Sue Masters; Fiscal Year: 2005
    This proposal emanates from the interests of the Principal Investigator in flavoproteins containing both FAD and FMN as prosthetic groups, extending from her early studies on NADPI-I-cytochrome P450 reductase (CYPOR) to the three nitric ..
  88. PET IMAGING & MAPPING
    Steven Potkin; Fiscal Year: 2001
    ..metabolic progression of age-related mental decline in the autosomal dominant form of familial Alzheimer disease (FAD)...
  89. PET IMAGING & MAPPING
    Steven Potkin; Fiscal Year: 2000
    ..metabolic progression of age-related mental decline in the autosomal dominant form of familial Alzheimer disease (FAD)...
  90. STRUCTURAL DETERMINANTS OF FAD and FMN-REQUIRING ENZYMES
    Bettie Sue Masters; Fiscal Year: 2002
    This proposal emanates from the interests of the Principal Investigator in flavoproteins containing both FAD and FMN as prosthetic groups, extending from her early studies on NADPI-I-cytochrome P450 reductase (CYPOR) to the three nitric ..