Genomes and Genes
Gene Symbol: BRCA2
Description: breast cancer 2, early onset
Alias: BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11, 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
Publications269 found, 100 shown here
- Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2Mary 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 ..
- Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriersPeter 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...
- 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 studiesA 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. 2003Germline 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...
- Meta-analysis of BRCA1 and BRCA2 penetranceSining 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. 2007Genetic 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...
- Biallelic inactivation of BRCA2 in Fanconi anemiaNiall 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...
- Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2Bing Xia
Dana Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA
Mol Cell 22:719-29. 2006b>BRCA2 mutations predispose carriers to breast and ovarian cancer and can also cause other cancers and Fanconi anemia...
- 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 BRCA1/2Anna 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...
- Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriersAntonis 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 ..
- The breast cancer tumor suppressor BRCA2 promotes the specific targeting of RAD51 to single-stranded DNATina Thorslund
London Research Institute, Cancer Research UK, Clare Hall Laboratories, South Mimms, Hertfordshire, UK
Nat Struct Mol Biol 17:1263-5. 2010Individuals with BRCA2 mutations are predisposed to breast cancers owing to genome instability. To determine the functions of BRCA2, the human protein was purified...
- Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk predictionAntonis 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...
- Fanconi anemia is associated with a defect in the BRCA2 partner PALB2Bing Xia
Dana Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA
Nat Genet 39:159-61. 2007The Fanconi anemia and BRCA networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals with Fanconi anemia subtype D1...
- Stabilization of RAD51 nucleoprotein filaments by the C-terminal region of BRCA2Fumiko Esashi
Cancer Research UK, London Research Institute, Clare Hall Laboratories, South Mimms, Herts EN6 3LD, UK
Nat Struct Mol Biol 14:468-74. 2007The human breast cancer susceptibility gene BRCA2 is required for the regulation of RAD51-mediated homologous recombinational repair...
- Germline BRCA1 mutations and a basal epithelial phenotype in breast cancerWilliam 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...
- 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 yearsKathleen E Malone
Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
Cancer Res 66:8297-308. 2006Although 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 ..
- Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundaryPhillip J Whiley
Queensland Institute of Medical Research, Brisbane, Australia
Hum Mutat 32:678-87. 2011Clinical management of breast cancer families is complicated by identification of BRCA1 and BRCA2 sequence alterations of unknown significance...
- The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identifiedWen 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. 2008To 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-..
- Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriersAntonis 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...
- PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2Fan 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. 2009BRCA1 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...
- Identification of the breast cancer susceptibility gene BRCA2R 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...
- A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genesDouglas F Easton
Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Cambridge, UK
Am J Hum Genet 81:873-83. 2007Mutation screening of the breast and ovarian cancer-predisposition genes BRCA1 and BRCA2 is becoming an increasingly important part of clinical practice...
- The carboxyl terminus of Brca2 links the disassembly of Rad51 complexes to mitotic entryNabieh 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 ..
- 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 counsellingE Beristain
Laboratorio de Genetica Molecular, Hospital de Cruces, Pza de Cruces s n, 48903 Barakaldo, Bizkaia, Spain
Breast Cancer Res Treat 106:255-62. 2007The prevalence of unique and recurrent BRCA1 and BRCA2 pathogenic mutations and unclassified variants varies among different populations...
- Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicityLogan 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 ..
- Preventing future cancers by testing women with ovarian cancer for BRCA mutationsJanice 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)...
- BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relativesFiona 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. 2006Pathological mutations in BRCA1, BRCA2 and TP53 are associated with an increased risk of breast cancer...
- Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genesMireia 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. 2012Comprehensive 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 ..
- Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium membersMads Thomassen
Department of Clinical Genetics, Odense University Hospital, Soenderboulevard 29, 5000 Odense C, Denmark
Breast Cancer Res Treat 132:1009-23. 2012Mutations 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...
- The prevalence of BRCA1 mutations among young women with triple-negative breast cancerS R Young
Women s College Research Institute, Department of Public Health, The University of Toronto, Toronto, Canada
BMC Cancer 9:86. 2009Molecular screening for BRCA1 and BRCA2 mutations is now an established component of risk evaluation and management of familial breast cancer...
- Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2Nancie Petrucelli
Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, Michigan, USA
Genet Med 12:245-59. 2010Hereditary 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...
- Prevalence of the variant allele rs61764370 T>G in the 3'UTR of KRAS among Dutch BRCA1, BRCA2 and non-BRCA1/BRCA2 breast cancer familiesAntoinette 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...
- BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment modelKristen J Vogel
Center for Medical Genetics, Evanston Northwestern Healthcare, Evanston, IL, USA
J Clin Oncol 25:4635-41. 2007The 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...
- Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groupsB 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...
- Pathology of hereditary breast cancerPetra 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...
- Mutation analysis in the BRCA2 gene in primary breast cancersY Miki
Department of Human Genome Analysis, Cancer Chemotherapy Center, Tokyo, Japan
Nat Genet 13:245-7. 1996..1), BRCA2 (ref. 2), TP53 (ref...
- De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genesErik Teugels
Laboratory of Molecular and Medical Oncology, AZ VUB, Vrije Universiteit Brussel, Laarbeeklaan 101, B1090 Brussels, Belgium
Hum Mutat 26:284. 2005Linkage 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...
- 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 familyD Gareth Evans
Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital Manchester M13 0JH, UK
BMC Cancer 8:155. 2008The identification of a BRCA1 or BRCA2 mutation in familial breast cancer kindreds allows genetic testing of at risk relatives...
- Abnormal cytokinesis in cells deficient in the breast cancer susceptibility protein BRCA2Matthew 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. 2004Germ-line mutations inactivating BRCA2 predispose to cancer. BRCA2-deficient cells exhibit alterations in chromosome number (aneuploidy), as well as structurally aberrant chromosomes...
- Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in PakistanAlexander 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...
- Expanding the criteria for BRCA mutation testing in breast cancer survivorsJanice 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...
- Incorporating tumour pathology information into breast cancer risk prediction algorithmsNasim 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. 2010Mutations in BRCA1 and BRCA2 confer high risks of breast cancer and ovarian cancer...
- BRCA2 germline mutations in familial pancreatic carcinomaStephan 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...
- High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from ColombiaDiana 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 ..
- Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancerE Thirthagiri
Cancer Research Initiatives Foundation, Subang Jaya Medical Centre, Kuala Lumpur, Malaysia
Breast Cancer Res 10:R59. 2008The 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...
- Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2Blanche 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. 2007Patients with biallelic mutations in BRCA2 are in Fanconi anaemia group D1...
- Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish populationSharon 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. 2006Inherited 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...
- Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriersXianshu 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...
- CDK-dependent phosphorylation of BRCA2 as a regulatory mechanism for recombinational repairFumiko Esashi
Cancer Research UK, London Research Institute, Clare Hall Laboratories, South Mimms, Hertfordshire EN6 3LD, UK
Nature 434:598-604. 2005Inherited 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...
- A region of human BRCA2 containing multiple BRC repeats promotes RAD51-mediated strand exchangeMahmud 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. 2006Human 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...
- Age-dependent penetrance of different germline mutations in the BRCA1 geneF 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...
- Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1M D Miramar
Medical Genetics Unit, Biochemistry Service, Miguel Servet Hospital, Zaragoza, Spain
Breast Cancer Res Treat 112:353-8. 2008We 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 ..
- A genetic screen identifies BRCA2 and PALB2 as key regulators of G2 checkpoint maintenanceTobias 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...
- MRG15 binds directly to PALB2 and stimulates homology-directed repair of chromosomal breaksTomohiro Hayakawa
Laboratory for Chromatin Dynamics, RIKEN Center for Developmental Biology, Kobe, Hyogo 650 0047, Japan
J Cell Sci 123:1124-30. 2010PALB2 physically and functionally connects the proteins encoded by the BRCA1 and BRCA2 breast and ovarian cancer genes into a DNA-damage-response network...
- Breast cancer risk associated with BRCA1 and BRCA2 in diverse populationsJames 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. 2007Germline mutations in the BRCA1 or BRCA2 tumour-suppressor genes are strong predictors of breast and/or ovarian cancer development...
- Expression profiling of familial breast cancers demonstrates higher expression of FGFR2 in BRCA2-associated tumorsAnita L Bane
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada
Breast Cancer Res Treat 117:183-91. 2009BRCA1- 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...
- Prevalence of BRCA1 and BRCA2 mutations in women diagnosed with ductal carcinoma in situElizabeth B Claus
Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, Conn 06520 8034, USA
JAMA 293:964-9. 2005The distribution of BRCA1 and BRCA2 mutations in women diagnosed with noninvasive breast carcinoma is unknown.
- Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancerTomas Kirchhoff
Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
J Natl Cancer Inst 96:68-70. 2004Mutations in BRCA1 and BRCA2 that predispose to breast and ovarian cancer are detected in approximately 2.5% of the Ashkenazi Jewish population...
- Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemiaJohn 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...
- BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancerJae Hong Seo
Department of Internal Medicine, Division of Hematology Oncology, College of Medicine, Korea University, Seoul, Korea
Hum Mutat 24:350. 2004In 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 ..
- PALB2 links BRCA1 and BRCA2 in the DNA-damage responseFeng 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. 2009BRCA1 and BRCA2 are often mutated in familial breast and ovarian cancer. Both tumor suppressors play key roles in the DNA-damage response...
- Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriersRoger 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...
- Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutationsLuna 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...
- A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patientsDavid 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)...
- Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in TaiwanS 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...
- Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcriptsPhillip 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 ..
- BRCA2 mutations and triple-negative breast cancerPeter 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...
- Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2B 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. 1996BRCA1 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...
- The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian populationVida Stegel
Department of Molecular Diagnostics, Institute of Oncology Ljubljana, Zaloska 2, 1000 Ljubljana, Slovenia
BMC Med Genet 12:9. 2011the 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.
- RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2A K Wong
Myriad Genetics, Inc, Salt Lake City, Utah 84108, USA
J Biol Chem 272:31941-4. 1997Recent 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...
- Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancersD 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...
- Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancerShiyu 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 ..
- 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 patientsEunjung 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 ..
- Rad51 overexpression rescues radiation resistance in BRCA2-defective cancer cellsErika 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. 2009Breast cancers with BRCA2 mutations exhibit DNA repair defects and are particularly sensitive to radiation...
- The BRCA2 gene product functionally interacts with p53 and RAD51L 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. 1998Germ-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...
- BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central ItalyLaura 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...
- Distant disease-free interval, site of first relapse and post-relapse survival in BRCA1- and BRCA2-associated compared to sporadic breast cancer patientsMieke 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. 2008Data 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.
- The relationship between the roles of BRCA genes in DNA repair and cancer predispositionAndrew Tutt
The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK
Trends Mol Med 8:571-6. 2002The 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 ..
- FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3J 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-..
- M phase-specific phosphorylation of BRCA2 by Polo-like kinase 1 correlates with the dissociation of the BRCA2-P/CAF complexHorng 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. 2003b>BRCA2 is a breast tumor susceptibility gene encoding a 390-kDa protein with functions in maintaining genomic stability and cell cycle progression...
- The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central PortugalAna Peixoto
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 072, Porto, Portugal
Breast Cancer Res Treat 114:31-8. 2009We 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...
- The contribution of BRCA1 and BRCA2 to ovarian cancerSusan 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. 2009Germline 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...
- Structural basis for recruitment of BRCA2 by PALB2Antony 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. 2009The breast cancer 2, early onset protein (BRCA2) is central to the repair of DNA damage by homologous recombination...
- Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patientsIrene 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...
- Prediction of BRCA2-association in hereditary breast carcinomas using array-CGHSimon 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...
- One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern SwedenS 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...
- BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structureHaijuan 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. 2002Mutations 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 ..
- The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in SpainRoger 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. 2008It 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 ..
- Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriersAntonis 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. 2008Germline 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...
- Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2S K Sharan
Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA
Nature 386:804-10. 1997Inherited mutations in the human BRCA2 gene cause about half of the cases of early-onset breast cancer...
- RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studiesAntonis C Antoniou
Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK
Am J Hum Genet 81:1186-200. 2007RAD51 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 ..
- The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatmentP 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. 1998The BRCA2 gene was identified based on its involvement in familial breast cancer...
- Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, CanadaHarvey 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. 2006BRCA1 and BRCA2 mutations in general populations and in various types of cancers have not been well characterized...
- Variation of breast cancer risk among BRCA1/2 carriersColin B Begg
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
JAMA 299:194-201. 2008The 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.
- Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosisS M Edwards
Oncogenetics team, Section of Cancer Genetics, Institute of Cancer Research, Sutton SM2 5PT, UK
Br J Cancer 103:918-24. 2010The 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.
- Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial riskC 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...
- EMSY links the BRCA2 pathway to sporadic breast and ovarian cancerLuke Hughes-Davies
Cancer Research UK Wellcome Trust Institute and Department of Pathology, Tennis Court Road, Cambridge CB2 1QR, United Kingdom
Cell 115:523-35. 2003The 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...
- Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13R 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...
- Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from BrazilMagda 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. 2007The contribution of BRCA1 and BRCA2 to breast cancer incidence in Brazil has not yet been explored...
- ERBB2, TBX2, RPS6KB1, and MYC alterations in breast tissues of BRCA1 and BRCA2 mutation carriersCamilo Adem
Division of Laboratory Genetics, Mayo Clinic and Foundation, Rochester, Minnesota, USA
Genes Chromosomes Cancer 41:1-11. 2004Breast cancer risk is greatly increased in women who carry mutations in the BRCA1 or BRCA2 genes...
- Novel de novo BRCA2 mutation in a patient with a family history of breast cancerThomas V O Hansen
Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark
BMC Med Genet 9:58. 2008b>BRCA2 germ-line mutations predispose to breast and ovarian cancer. Mutations are widespread and unclassified splice variants are frequently encountered...
- The BRC repeats of BRCA2 modulate the DNA-binding selectivity of RAD51Aura Carreira
Department of Microbiology, University of California, Davis, CA 95616, USA
Cell 136:1032-43. 2009The breast cancer susceptibility protein, BRCA2, is essential for recombinational DNA repair...
- Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from IndiaSuresh 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. 2004Mutations in breast cancer susceptibility genes, BRCA1 and BRCA2 account for more than 80% of hereditary breast and ovarian cancers...
- Obesity susceptibility loci and breast cancer risk in BRCA1 and BRCA2 mutation caJONATHAN ANDREW MITCHELL; Fiscal Year: 2013..lead involves investigating if genetic predisposition to obesity modifies breast cancer risk in female BRCA1 and BRCA2 mutation carriers...
- Consortium Study to Identify Breast Cancer Susceptibility LociWei 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...
- BRCA1 and Familial Pancreatic CancerAlison 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 ..
- Defining the role of proteostasis pathways in cancer drug resistanceERICA 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...
- Connections and redundancy in the BRCA1-BRCA2 pathway of homologous recombinationSimon 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...
- Mechanisms of Carcinogenesis in BRCA2 Mutant CellsJeffrey Holt; Fiscal Year: 2005The BRCA2 gene is a cancer predisposition gene, which is matured in breast cancer, prostate cancer, ovarian cancer, esophageal cancer , and pancreatic cancer...
- ROLES OF BRCA1 AND BRCA2 IN BREAST CARCINOGENESISDaniel Silver; Fiscal Year: 2003The recently isolated tumor suppressor genes, BRCA1 and BRCA2, appear to play key roles in preventing breast and ovarian carcinoma...
- Mechanistic Studies of BRCA2-RAD51 Mediated DNA RepairErika 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 ..
- Early Detection of Pancreatic Cancer Using Ice COLD-PCRGrant Wu; Fiscal Year: 2012..that lead to Her-2 overexpression and p16 inactivation;(3) in Stage 3, mutations occur in the TP53, DPC4, and BRCA2 genes...
- Exploration of Genome Stability as a Therapeutic Target in CancerRahul 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 ..
- Adherence to Cancer Risk Management Among Unaffected BRCA1/2Mutation CarriersAdam H Buchanan; Fiscal Year: 2012DESCRIPTION (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)...
- BRCA1 and BRCA2 missense mutations and breast cancer riskFERGUS JOSEPH COUCH; Fiscal Year: 2013DESCRIPTION (provided by applicant): Women with germline inactivating mutations in the BRCA1 and BRCA2 genes are at significantly elevated risk of breast and ovarian cancer...
- Genetics of Breast Cancer in BlacksOlufunmilayo 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 ..
- PHENOTYPIC RISK MARKERS IN BRCA1 MUTATION CARRIERSGail Tomlinson; Fiscal Year: 2002The 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 ..
- Role of PALB2 in the DNA damage response and breast cancer suppressionBing Xia; Fiscal Year: 2013Heterozygous germline mutations in BRCA2 predispose female carriers to breast cancer and also lead to increased risks of ovarian, male breast, prostate, and pancreatic cancers...
- LOH at BRCA1/BRCA2 Loci in Mutation Carriers as a Precursor to Breast TumorigenesMark A Brenneman; Fiscal Year: 2010Women 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...
- Validation of an Antibody Test for Early Diagnosis of Ovarian CancerMichael 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...
- A novel model system for risk assessment of BRCA carriersRORY 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 ..
- Genes, environment and breast cancer risk: The 15 year follow-up of the Prof-SCMary Beth Terry; Fiscal Year: 2013DESCRIPTION (provided by applicant): The discovery of BRCA1 and BRCA2 has resulted in more appropriate targeting of preventive and screening strategies for breast cancer...
- BRCA2 Hereditary Ovarian Cancer Tissue Truncation TestJeffrey 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...
- Development of a BRCA Breast Cancer Diagnostic TestJeffrey 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...
- BRCA2 Hereditary Ovarian Cancer Tissue Truncation TestJeffrey 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...
- Novel Diagnostics to Detect Lung InjuryElizabeth 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...
- Employing Familial AD Induced Pluripotent Stem Cells to Study NeurodegenerationSuman 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...
- Disclosing Genomic Incidental Findings in a Cancer Biobank: An ELSI ExperimentSusan 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)...
- TGF-beta polymorphisms and breast cancer in familiesBoris 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 ..
- Presenilin1/g-secretase regulate miRNAs and neuronal survivalNikolaos 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 ..
- Presenilins and neuronal calcium dyshomeostasisILYA B BEZPROZVANNY; Fiscal Year: 2013..Missense mutations in presenilins account for 40% of familial AD (FAD) cases...
- Central and endocrine stress pathway contributions to Alzheimers DiseaseNicholas 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 ..
- Characterization of an FAD pathogenic PS1 mutation with complete loss of activityHANNAH 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...
- FASEB SRC: Genetic Recombination and Genome RearrangementsWolf 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 ..
- The contribution of rare alleles to ovarian cancer in the populationSusan 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...
- Peripheral Biomarkers in Familial Alzheimer's DiseasePaul 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...
- Towards a Model of Fanconi AnemiaBEVERLY 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. ..
- FAA AND FAD GENES AND PROTEINSManuel 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...
- STRUCTURAL DETERMINANTS OF FAD and FMN-REQUIRING ENZYMESBettie Sue Masters; Fiscal Year: 2005This 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 ..
- Comparative effectiveness of Brain Imaging and Blood Biomarkers in Alzheimer??s dOrly Lazarov; Fiscal Year: 2010..Our studies in mouse models of Familial Alzheimer's disease (FAD) revealed that neurogenesis is severely compromised in these mice...