Genomes and Genes
Gene Symbol: BRCA2
Description: breast cancer 2, early onset
Alias: BRCC2, BROVCA2, FACD, FAD, FAD1, FANCB, FANCD, FANCD1, GLM3, PNCA2, BRCA1/BRCA2-containing complex, subunit 2, breast and ovarian cancer susceptibility gene, early onset, breast cancer 2 tumor suppressor, breast cancer type 2 susceptibility protein, fanconi anemia group D1 protein, truncated breast and ovarian cancer susceptibility protein 2
Publications228 found, 100 shown here
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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 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 ..
- 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...
- 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...
- 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...
- 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 ..
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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.
- 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...
- 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 ..
- 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 ..
- 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 ..
- 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. Patients and..
- 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-..
- 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...
- 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...
- 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...
- 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...
- 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 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-..
- 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...
- 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 ..
- 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...
- 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...
- 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.
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombinationRémi Buisson
Genome Stability Laboratory, Laval University Cancer Research Center, Hotel Dieu de Quebec, Quebec City, Quebec, Canada
Nat Struct Mol Biol 17:1247-54. 2010..PALB2's tumor-suppressing effect is thought to be based on its ability to facilitate BRCA2's function in homologous recombination. However, the biochemical properties of PALB2 are unknown...
- MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset casesStefanie Engert
Department of Obstetrics and Gynecology, Division of Tumor Genetics, Technical University, Munich, Germany
Hum Mutat 29:948-58. 2008..of 1,506 German families for large genomic rearrangements (LGRs) in the BRCA1 gene and of 450 families in the BRCA2 gene by the multiplex ligation-dependent probe amplification (MLPA) technique...
- Common genetic variants and modification of penetrance of BRCA2-associated breast cancerMia M Gaudet
Department of Epidemiology and Population Health and Department of Obstetrics and Gynecology and Women s Health, Albert Einstein College of Medicine, New York, New York, United States of America
PLoS Genet 6:e1001183. 2010The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors...
- BRCA2 gene mutations in Slovenian male breast cancer patientsNikola Besic
Institute of Oncology Ljubljana, Ljubljana, Slovenia
Genet Test 12:203-9. 2008..Some inherited cases are due to the mutations of BRCA1 or BRCA2 genes. There is no information available about the frequency of BRCA gene mutations in Slovenian MBC population...
- Decreased prostate cancer-specific survival of men with BRCA2 mutations from multiple breast cancer familiesHeather Thorne
kConFab, Research Department, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia, 3002
Cancer Prev Res (Phila) 4:1002-10. 2011The role of a germ-line BRCA2 mutation in the development of prostate cancer is established, but the clinical presentation linked to outcome for this group of men has not been well described...
- Down regulation of BRCA2 causes radio-sensitization of human tumor cells in vitro and in vivoDong Yu
Heavy Ion Radiobiology Research Group, Research Center for Charged Particle Therapy, National Institute of Radiological Sciences, 4 9 1 Anagawa, Inage Ku, Chiba shi, 263 8555, Japan
Cancer Sci 99:810-5. 2008In order to study the role of BRCA2 protein in homologous recombination repair and radio-sensitization, we utilized RNA interference strategy in vitro and in vivo with human tumor cells...
- Founder mutations in BRCA1/2 are not frequent in Canadian Ashkenazi Jewish men with prostate cancerNancy Hamel
Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, Quebec, Canada
BMC Med Genet 4:7. 2003Relatives of BRCA1 and BRCA2 mutation carriers have long been proposed by epidemiological studies to have an increased risk of developing prostate cancer...
- Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer familiesGiuseppe Giannini
Department of Experimental Medicine and Pathology, University La Sapienza, Policlinico Umberto I Viale Regina Elena, 324, 00161 Rome, Italy
Breast Cancer Res Treat 100:83-91. 2006..including two deleterious truncating mutations and two potentially pathogenic missense mutations, on the BRCA1 and BRCA2 genes...
- siRNA depletion of BRCA1, but not BRCA2, causes increased genome instability in Fanconi anemia cellsDonald Bruun
Department of Molecular and Medical Genetics, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, L 103, Portland, OR 97201 3098, USA
DNA Repair (Amst) 2:1007-13. 2003BRCA1 and BRCA2 proteins act in repair of interstrand crosslinks (ICLs) and maintenance of genome stability and are known to be part of the Fanconi anemia (FA) pathway...
- Evidence that the tumor-suppressor protein BRCA2 does not regulate cytokinesis in human cellsSergey Lekomtsev
Cell Division and Aneuploidy Laboratory, Cancer Research UK London Research Institute, Clare Hall Laboratories, Blanche Lane, South Mimms, Hertfordshire EN6 3LD, UK
J Cell Sci 123:1395-400. 2010Germline mutations in the tumor-suppressor gene BRCA2 predispose to breast and ovarian cancer. BRCA2 plays a well-established role in maintaining genome stability by regulating homologous recombination...
- "The bigger the network the bigger the bowl of cherries...": exploring the acceptability of, and preferences for, an ongoing support network for known BRCA 1 and BRCA 2 mutation carriersLisa Hughes
East Anglian Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK
J Genet Couns 19:487-96. 2010..This study has informed the development of an appropriate support network based on a hub and spoke model to help carriers and their families adapt to living and coping with their genetic risk...
- International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutationAna Peixoto
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, Porto 4200 072, Portugal
Breast Cancer Res Treat 127:671-9. 2011The c.156_157insAlu BRCA2 mutation has so far only been reported in hereditary breast/ovarian cancer (HBOC) families of Portuguese origin...
- 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.
- Prevalence of the BRCA2 6174 del T mutation in Israeli uveal melanoma patientsJose Iscovich
Selikoff Center for Environmental Health and Human Development and the International Fertility Institute, Ra anana, Israel
Int J Cancer 98:42-4. 2002..have been several anecdotal reports of uveal melanoma occurring in breast cancer families with mutations in the BRCA2 gene as well as one systematic study reporting BRCA2 mutations in UM...
- Germline BRCA mutations denote a clinicopathologic subset of prostate cancerDavid J Gallagher
Clinical Genetics Service, Department of Medicine, Urology Service, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Clin Cancer Res 16:2115-21. 2010..Increased prostate cancer risk has been reported for BRCA mutation carriers, but BRCA-associated clinicopathologic features have not been clearly defined...
- Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer familiesSylvia De Brakeleer
Laboratory of Molecular Oncology, Vrije Universiteit Brussel, 1090 Brussels, Belgium
Hum Mutat 31:E1175-85. 2010Fifteen years ago BRCA1 and BRCA2 were reported as high penetrant breast cancer predisposing genes. However, mutations in these genes are found in only a fraction of high risk families...
- Insights into DNA recombination from the structure of a RAD51-BRCA2 complexLuca Pellegrini
University of Cambridge, Department of Biochemistry, Tennis Court Road, Cambridge CB2 1GA, UK
Nature 420:287-93. 2002The breast cancer susceptibility protein BRCA2 controls the function of RAD51, a recombinase enzyme, in pathways for DNA repair by homologous recombination...
- BRCA1 and BRCA2 bind Stat5a and suppress its transcriptional activityH Vidarsson
Molecular and Cell Biology Research Laboratory, Icelandic Cancer Society, Reykjavik, Iceland
FEBS Lett 532:247-52. 2002Germline mutations in the breast cancer susceptibility genes, BRCA1 and BRCA2, are thought to account for a large portion of familial breast cancer...
- Histopathological findings and follow-up after prophylactic mastectomy and immediate breast reconstruction in 100 women from families with hereditary breast cancerA E Isern
Department of Plastic Surgery, Malmo University Hospital, Malmo, Sweden
Eur J Surg Oncol 34:1148-54. 2008..To survey the histopathological abnormalities in breasts of women who have undergone risk reducing mastectomy and to evaluate the effect of this measure on future breast cancer development...
- Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studiesA C Antoniou
J Med Genet 42:602-3. 2005..The estimated breast cancer risks for each of the founder BRCA1 and BRCA2 mutations were similar to the corresponding estimates based on all BRCA1 or BRCA2 mutations in the meta-analysis...
- A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13Mads Thomassen
Department of Clinical Genetics and Clinical Biochemistry, Odense University Hospital, Odense, Denmark
Genet Test 10:116-20. 2006We report here the functional characterisation of a missense mutation c.7235G>A in BRCA2. By reverse transcriptase polymerase chain reaction the mutation is demonstrated to cause skipping of exon 13...
- Germ-line mutations in BRCA1 or BRCA2 in the normal breast are associated with altered expression of estrogen-responsive proteins and the predominance of progesterone receptor APatricia A Mote
Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
Genes Chromosomes Cancer 39:236-48. 2004The breast cancer susceptibility genes BRCA1 and BRCA2 are responsible for a large proportion of familial breast and ovarian cancer, yet little is known of how disruptions in the functions of the proteins these genes encode increased ..
- A gene-environment interaction between occupation and BRCA1/BRCA2 mutations in male breast cancer?Domenico Palli
Molecular and Nutritional Epidemiology Unit, CSPO, Scientific Institute of Tuscany, Via di San Salvi 12, 50135 Florence, Italy
Eur J Cancer 40:2474-9. 2004....
- Germline mutations in the BRCA2 gene and susceptibility to hereditary prostate cancerIlir Agalliu
Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Department of Epidemiology, School of Public Health and Community Medicine, University of Washington, Seattle, USA
Clin Cancer Res 13:839-43. 2007Several epidemiologic studies have reported that carriers of germline mutations in the BRCA2 gene have an increased risk of prostate cancer, with the highest risk observed in men diagnosed at earlier ages...
- BRCA2 associates with acetyltransferase activity when bound to P/CAFF Fuks
Wellcome CRC Institute and Department of Pathology, Cambridge University, UK
Oncogene 17:2531-4. 1998Predisposition to hereditary breast cancer has been attributed in part to inherited mutations in the BRCA2 gene. The large protein it encodes is still poorly characterized with respect to functions...
- 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...
- Population-based study of changing breast cancer risk in Icelandic BRCA2 mutation carriers, 1920-2000Laufey Tryggvadottir
Icelandic Cancer Registry, Skógarhlío 8, Reykjavik, Iceland
J Natl Cancer Inst 98:116-22. 2006..We examined the cumulative breast cancer incidence and mortality before age 70 over a diagnosis period of 80 years in Icelandic women who carried the BRCA2 founder mutation 999del5.
- Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer familiesJ M Hartikainen
Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Kuopio, Kuopio, Finland
Clin Genet 72:311-20. 2007..for 5-10% of all breast cancer cases, and high penetrance breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 explain < or =20% of these...
- The BRC repeats of human BRCA2 differentially regulate RAD51 binding on single- versus double-stranded DNA to stimulate strand exchangeMahmud K K Shivji
The Medical Research Council Cancer Cell Unit, Hutchison MRC Research Centre, Hills Road, Cambridge CB2 0XZ, United Kingdom
Proc Natl Acad Sci U S A 106:13254-9. 2009The breast and ovarian cancer suppressor BRCA2 controls the enzyme RAD51 during homologous DNA recombination (HDR) to preserve genome stability...
- 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...
- BRCA1 and BRCA2 sequence variants in Chinese breast cancer familiesXiangcheng Zhi
Breast Department Tianjin Cancer Hospital of Tianjin Medical University, Tianjin, P R China
Hum Mutat 20:474. 2002..diagnosed under age 35 without reported family history, were studied for germline mutations of the BRCA1 and BRCA2 genes. Thirteen of the 16 families contained at least one case diagnosed under age 50...
- BRCA2 Arg372Hispolymorphism and epithelial ovarian cancer riskAnnika Auranen
CRC Department of Oncology, Strangeways Research Laboratory, Cambridge, UK
Int J Cancer 103:427-30. 2003The BRCA2 372 HH genotype defined by the BRCA2 N372H nonconservative amino acid substitution polymorphism was recently reported to be associated with a small increased risk of breast cancer...
- Methylation and protein expression of DNA repair genes: association with chemotherapy exposure and survival in sporadic ovarian and peritoneal carcinomasElizabeth M Swisher
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of Washington School of Medicine, Seattle, WA 98195, USA
Mol Cancer 8:48. 2009..Restoration of BRCA1 and BRCA2 mediates resistance to platinum chemotherapy in recurrent BRCA1 and BRCA2 mutated hereditary ovarian carcinomas...
- Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer familiesAndrea Pietschmann
Institute of Medical Genetics, Charite, Humboldt University Berlin, Augustenburger Platz 1, 13353, Berlin, Germany
J Cancer Res Clin Oncol 131:552-8. 2005Germline mutations in either BRCA1 or BRCA2 genes are responsible for the majority of hereditary breast and ovarian cancers. At present, over thousand distinct BRCA1 and BRCA2 mutations have been identified...
- Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish PopulationBohdan Gorski
Department of Genetics and Pathology, International Hereditary Cancer Centre, Pomeranian Medical University, Szczecin, Poland
Hered Cancer Clin Pract 4:142-52. 2006ABSTRACT: OBJECTIVES: This study was undertaken to determine: 1) Type and prevalence of founder mutations BRCA1 and BRCA2 genes in Polish families with strong aggregation of breast and/or ovarian cancer...
- Psychological issues in genetic testing for breast cancerC L Carter
Department of Psychology, University of Southern Mississippi, Hattiesburg 39406 9371, USA
Women Health 28:73-91. 1999..of breast cancer is currently available to individuals who want to learn their genetic status for the BRCA1 and BRCA2 genes...
- Breast cancer and ovarian cancer geneticsRichard F Edlich
University of Virginia Health System, Charlottesville, Virginia, USA
J Long Term Eff Med Implants 15:533-45. 2005..only 5--10% of the cases are a direct result of germline mutations in highly penetrable genes, such as BRCA1 and BRCA2 (BRCA1/2) as well as genes TP53 and PTEN...
- BRCA1 and BRCA2 genetic test in high risk patients and families: counselling and managementEleonora Marchina
Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, 25123 Brescia, Italy
Oncol Rep 24:1661-7. 2010..About 30% of cases with hereditary breast and ovarian cancer have mutations in the BRCA1 and BRCA2 genes...
- BRCA2-null embryonic survival is prolonged on the BALB/c genetic backgroundL M Bennett
Laboratory of Molecular Carcinogenesis, National Institutes of Health, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA
Mol Carcinog 28:174-83. 2000Women who inherit mutations in the BRCA2 cancer susceptibility gene have an 85% chance of developing breast cancer...
- Multiple copies of mutant BRCA1 and BRCA2 alleles in breast tumors from germ-line mutation carriersS Staff
Laboratory of Cancer Genetics, University of Tampere, University Hospital of Tampere, Institute of Medical Technology, Tampere, Finland
Genes Chromosomes Cancer 28:432-42. 2000Inactivation of the BRCA1 and BRCA2 breast cancer susceptibility genes has been reported to occur via a germ-line mutation of one allele and a somatic loss of the remaining wild-type allele...
- Mutation analysis of BRCA1 gene in African-American patients with breast cancerD Shen
Department of Medicine, Charles R Drew University of Medicine and Science, UCLA School of Medicine 90059, USA
J Natl Med Assoc 92:29-35. 2000..7% of all breast cancers and 10% of all ovarian cancers are associated with inherited mutations in BRCA1 and BRCA2 genes...
- Therapeutic exploitation of tumor cell defects in homologous recombinationSimon N Powell
Department of Radiation Oncology, Washington University School of Medicine, 4511 Forest Park, St Louis, MO 63108, USA
Anticancer Agents Med Chem 8:448-60. 2008In the decade since the BRCA1 and BRCA2 genes were cloned, much has been learned about the function of these two major causes of familial breast cancer...
- Rates of Jewish ancestral mutations in BRCA1 and BRCA2 in borderline ovarian tumorsW H Gotlieb
Division of Gynecologic Oncology, Sheba Medical Center, and Sackler School of Medicine, Tel Aviv University, Tel Hashomer, Israel
J Natl Cancer Inst 90:995-1000. 1998Germline mutations in the BRCA1 and BRCA2 genes are known to be associated with an increased risk of breast and epithelial ovarian cancers...
- Down-regulation of BRCA1 and BRCA2 in human ovarian cancer cells exposed to adriamycin and ultraviolet radiationS Fan
Department of Radiation Oncology, Long Island Jewish Medical Center, The Long Island Campus for the Albert Einstein College of Medicine, New Hyde Park, NY 11040, USA
Int J Cancer 77:600-9. 1998Germ-line mutations of the BRCA1 and BRCA2 genes predispose women to develop cancers of the breast and ovary, but the biologic functions of these genes remains unclear...
- Genomic profiling of breast tumours in relation to BRCA abnormalities and phenotypesOlafur Andri Stefansson
Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, Reykjavik, Iceland
Breast Cancer Res 11:R47. 2009Germline mutations in the BRCA1 and BRCA2 genes account for a considerable fraction of familial predisposition to breast cancer...
- BRCA1 and BRCA2 and the genetics of breast and ovarian cancerP L Welcsh
Departments of Medicine and Genetics, Box 357720, University of Washington, Seattle, WA 98195 7720, USA
Hum Mol Genet 10:705-13. 2001Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 predispose individuals to breast and ovarian cancers...
- 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 ..
- PROPHYLACTIC SURGERY IN CARRIERS OF BRCA1 AND BRCA2Timothy 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...
- GENETIC EPIDEMIOLOGY OF BREAST CANCER--BRCA1 AND BRCA2Susan 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 ..
- Analysis of BRCA1 Function in DNA RepairJunjie Chen; Fiscal Year: 2005..abstract) More than 50 percent of familial breast and ovarian cancer are due to mutations of BRCA1 or BRCA2 genes...
- Determining the role of RAD51AP1: a new gene in DNA repair and genomic stabilityDavid Schild; Fiscal Year: 2009..Importantly, HRR is impaired in brca2 cells and the BRCA2 protein, like RAD51AP1, directly interacts with RAD51...
- Determining the role of RAD51AP1: a new gene in DNA repair and genomic stabilityDavid Schild; Fiscal Year: 2010..Importantly, HRR is impaired in brca2 cells and the BRCA2 protein, like RAD51AP1, directly interacts with RAD51...
- 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: 2002The 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 ..
- BRCA2 model systemWilliam 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...
- 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...
- 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...
- STRUCTURAL DETERMINANTS OF FAD AND FMN REQUIRING ENZYMESBettie 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 ..
- 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 ..
- PET IMAGING & MAPPINGSteven Potkin; Fiscal Year: 2002..metabolic progression of age-related mental decline in the autosomal dominant form of familial Alzheimer disease (FAD)...