brca2 genes

Summary

Summary: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 13 at locus 13q12.3. Mutations in this gene predispose humans to breast and ovarian cancer. It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev 2000;14(11):1400-6)

Top Publications

  1. ncbi Cancer susceptibility and the functions of BRCA1 and BRCA2
    Ashok R Venkitaraman
    University of Cambridge, CRC Department of Oncology, Hutchison MRC Research Centre, Hills Road, Cambridge CB2 2XZ, United Kingdom
    Cell 108:171-82. 2002
  2. pmc Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies
    A Antoniou
    Cancer Research U K Genetic Epidemiology Unit, Department of Public Health, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 72:1117-30. 2003
  3. ncbi A breast cancer prediction model incorporating familial and personal risk factors
    Jonathan Tyrer
    Department of Epidemiology, Mathematics and Statistics, Cancer Research UK
    Stat Med 23:1111-30. 2004
  4. ncbi Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage
    Kiyotsugu Yoshida
    Department of Molecular Genetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo 113 8510
    Cancer Sci 95:866-71. 2004
  5. ncbi Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    Mary Claire King
    Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Science 302:643-6. 2003
  6. pmc The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer
    Esther M John
    Clinical and Genetic Epidemiology Research Branch, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland, USA
    Breast Cancer Res 6:R375-89. 2004
  7. ncbi Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations
    Hanne Meijers-Heijboer
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Nat Genet 31:55-9. 2002
  8. ncbi New complexities for BRCA1 and BRCA2
    P Kerr
    The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, Fulham Road, London SW3 6JB, UK
    Curr Biol 11:R668-76. 2001
  9. pmc The Icelandic founder mutation BRCA2 999del5: analysis of expression
    Evgenia K Mikaelsdottir
    Molecular and Cell Biology Laboratory, The Icelandic Cancer Society, Reykjavik, Iceland
    Breast Cancer Res 6:R284-90. 2004
  10. ncbi Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
    Tom Walsh
    Department of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
    JAMA 295:1379-88. 2006

Detail Information

Publications334 found, 100 shown here

  1. ncbi Cancer susceptibility and the functions of BRCA1 and BRCA2
    Ashok R Venkitaraman
    University of Cambridge, CRC Department of Oncology, Hutchison MRC Research Centre, Hills Road, Cambridge CB2 2XZ, United Kingdom
    Cell 108:171-82. 2002
    ..Here, I examine what is known about the biological functions of the BRCA proteins and ask how their disruption can induce susceptibility to specific types of cancer...
  2. pmc Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies
    A Antoniou
    Cancer Research U K Genetic Epidemiology Unit, Department of Public Health, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 72:1117-30. 2003
    ..The variation in risk by age at diagnosis of index case is consistent with the effects of other genes modifying cancer risk in carriers...
  3. ncbi A breast cancer prediction model incorporating familial and personal risk factors
    Jonathan Tyrer
    Department of Epidemiology, Mathematics and Statistics, Cancer Research UK
    Stat Med 23:1111-30. 2004
    ..The discovery of the BRCA1 and BRCA2 genes has explained some of the genetic determinants of breast cancer risk, but these genes alone do not explain all ..
  4. ncbi Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage
    Kiyotsugu Yoshida
    Department of Molecular Genetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo 113 8510
    Cancer Sci 95:866-71. 2004
    ..Elucidation of the precise molecular functions of BRCAs is expected to improve our understanding of hereditary as well as sporadic mammary carcinogenesis...
  5. ncbi Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    Mary Claire King
    Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Science 302:643-6. 2003
    ..Lifetime risks of ovarian cancer were 54% for BRCA1 and 23% for BRCA2 mutation carriers. Physical exercise and lack of obesity in adolescence were associated with significantly delayed breast cancer onset...
  6. pmc The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer
    Esther M John
    Clinical and Genetic Epidemiology Research Branch, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland, USA
    Breast Cancer Res 6:R375-89. 2004
    ....
  7. ncbi Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations
    Hanne Meijers-Heijboer
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Nat Genet 31:55-9. 2002
    ....
  8. ncbi New complexities for BRCA1 and BRCA2
    P Kerr
    The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, Fulham Road, London SW3 6JB, UK
    Curr Biol 11:R668-76. 2001
    ..A large number of diverse functions have been attributed to the BRCA1 and BRCA2 breast cancer susceptibility genes. Here we review recent progress in the field...
  9. pmc The Icelandic founder mutation BRCA2 999del5: analysis of expression
    Evgenia K Mikaelsdottir
    Molecular and Cell Biology Laboratory, The Icelandic Cancer Society, Reykjavik, Iceland
    Breast Cancer Res 6:R284-90. 2004
    ..The purpose of this study was to determine whether this mutant protein is produced in heterozygous individuals and, if so, what might be the functional consequences of mutant protein production...
  10. ncbi Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
    Tom Walsh
    Department of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
    JAMA 295:1379-88. 2006
    ..Furthermore, other breast cancer genes generally are not evaluated...
  11. ncbi A functional polymorphism in the miR-146a gene and age of familial breast/ovarian cancer diagnosis
    Jie Shen
    Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    Carcinogenesis 29:1963-6. 2008
    ....
  12. ncbi Inactivation of BRCA1 and BRCA2 in ovarian cancer
    Jeffrey L Hilton
    Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Holden Comprehensive Cancer Center, Iowa City, IA, USA
    J Natl Cancer Inst 94:1396-406. 2002
    ..Our goal was to characterize BRCA2 mutations and mRNA expression in a group of ovarian tumors previously evaluated for BRCA1 mutations and mRNA expression...
  13. ncbi Quality-of-life effects of prophylactic salpingo-oophorectomy versus gynecologic screening among women at increased risk of hereditary ovarian cancer
    Joanna B Madalinska
    Division of Psychosocial Research and Epidemiology, Department of Gynecology, The Netherlands Cancer Institute, Amsterdam, The Netherlands
    J Clin Oncol 23:6890-8. 2005
    ..The aim of the current study was to determine the quality-of-life (QOL) effects of PBSO versus GS...
  14. pmc Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletions
    Maria Kraakman-van der Zwet
    Department of Radiation Genetics and Chemical Mutagenesis MGC, Leiden University Medical Center, The Netherlands
    Mol Cell Biol 22:669-79. 2002
    ....
  15. ncbi Cancer of the ovary
    Stephen A Cannistra
    Program of Gynecologic Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA
    N Engl J Med 351:2519-29. 2004
  16. ncbi De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes
    Erik Teugels
    Laboratory of Molecular and Medical Oncology, AZ VUB, Vrije Universiteit Brussel, Laarbeeklaan 101, B1090 Brussels, Belgium
    Hum Mutat 26:284. 2005
    Linkage analysis suggests that mutations in the BRCA1 and BRCA2 genes are responsible for cancer predisposition in more than 80% of the families with high incidence of breast/ovarian cancer...
  17. ncbi Hereditary breast cancer: new genetic developments, new therapeutic avenues
    Philippe M Campeau
    Department of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC, Canada
    Hum Genet 124:31-42. 2008
    ..Gaining deeper insights in breast cancer susceptibility will improve our ability to identify those families at increased risk and permit the development of new and more specific therapeutic approaches...
  18. ncbi Polygenic susceptibility to breast cancer and implications for prevention
    Paul D P Pharoah
    Cancer Research UK Human Cancer Genetic Group, Department of Oncology, Strangeways Research Laboratories, Worts Causeway, Cambridge, CB1 8RN, UK
    Nat Genet 31:33-6. 2002
    ..These results suggest that the construction and use of genetic-risk profiles may provide significant improvements in the efficacy of population-based programs of intervention for cancers and other diseases...
  19. pmc Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan
    Alexander Liede
    University of Toronto, Sunnybrook and Women s College Health Sciences Centre, Toronto, Ontario, Canada
    Am J Hum Genet 71:595-606. 2002
    ..7; 95% CI 1.5-4.9; P=.0008) and case subjects with ovarian cancer (OR=2.4; 95% CI 1.4-4.2; P=.002). These results suggest that recessively inherited genes may contribute to breast and ovarian cancer risk in Pakistan...
  20. ncbi Abnormal cytokinesis in cells deficient in the breast cancer susceptibility protein BRCA2
    Matthew J Daniels
    University of Cambridge, Cancer Research UK, Department of Oncology and the Medical Research Council MRC Cancer Cell Unit, Hutchison MRC Research Centre, Hills Road, Cambridge CB2 2XZ, UK
    Science 306:876-9. 2004
    ..Our findings thus link cytokinetic abnormalities to a hereditary cancer syndrome characterized by chromosomal instability and may help to explain why BRCA2-deficient tumors are frequently aneuploid...
  21. pmc Lessons from BRCA: the tubal fimbria emerges as an origin for pelvic serous cancer
    Christopher P Crum
    Department of Pathology, Brigham and Womens Hospital, 75 Francis Street, Boston, MA 02115, USA
    Clin Med Res 5:35-44. 2007
    ....
  22. ncbi The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain
    Roger L Milne
    Unidad de Genotipación CEGEN and Grupo de Genética Humana, Programa de Genética del Cáncer Humano, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
    Clin Cancer Res 14:2861-9. 2008
    ..We aimed to estimate these penetrances for women attending genetic counseling units in Spain...
  23. pmc Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population
    Sharon Simchoni
    Medical Genetics Unit, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem 91031, Israel
    Proc Natl Acad Sci U S A 103:3770-4. 2006
    ....
  24. pmc Drosophila brca2 is required for mitotic and meiotic DNA repair and efficient activation of the meiotic recombination checkpoint
    Martha Klovstad
    Howard Hughes Medical Institute, Department of Molecular Biology, Princeton University, Princeton, New Jersey, United States of America
    PLoS Genet 4:e31. 2008
    ..In addition, Brca2 co-immunoprecipitates with the checkpoint protein Rad9, suggesting a direct role for Brca2 in the transduction of the meiotic recombination checkpoint signal...
  25. ncbi A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, United Kingdom
    Genet Epidemiol 29:1-11. 2005
    ..The power to detect associations is, however, reduced compared with an unweighted approach...
  26. ncbi A BRCA1/2 mutation, high breast density and prominent pushing margins of a tumor independently contribute to a frequent false-negative mammography
    Madeleine Tilanus-Linthorst
    Department of Surgery, Erasmus University Medical Center Rotterdam, The Netherlands
    Int J Cancer 102:91-5. 2002
    ..Pushing margins of the tumor partly explain these results. For early BC detection in mutation carriers additional methods like MRI may be needed. This may not be necessary in other young women with breast symptoms...
  27. ncbi Differential association of BRCA1 and BRCA2 genes with some breast cancer-associated genes in early and late onset breast tumors
    Neelanjana Chunder
    Department of Oncogene Regulation, Chittaranjan National Cancer Institute, Kolkata, India
    Ann Surg Oncol 11:1045-55. 2004
    ..Accumulating evidence indicating more aggressive features of breast carcinoma (BC) in young women than their older counterparts have raised the question of whether these differences are present at the genetic level...
  28. pmc Mutation analysis of the CHK2 gene in breast carcinoma and other cancers
    Sigurdur Ingvarsson
    Institute for Experimental Pathology, University of Iceland, Reykjavik, Iceland
    Breast Cancer Res 4:R4. 2002
    ..Mutations in the CHK2 gene at chromosome 22q12.1 have been reported in families with Li-Fraumeni syndrome. Chk2 is an effector kinase that is activated in response to DNA damage and is involved in cell-cycle pathways and p53 pathways...
  29. ncbi Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families
    Siranoush Manoukian
    Medical Genetics Service, Department of Experimental Oncology and Laboratories, Istituto Nazionale Tumori, Milan, Italy
    Eur J Cancer 43:601-6. 2007
    ..one case of sarcoma and at least one case of breast cancer were screened for mutations in the TP53, BRCA1 and BRCA2 genes. Families were classified according to their conformity to the criteria defining the Li-Fraumeni syndrome (LFS),..
  30. ncbi Population-based study of changing breast cancer risk in Icelandic BRCA2 mutation carriers, 1920-2000
    Laufey 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...
  31. pmc A twofold increase in BRCA mutation related prostate cancer among Ashkenazi Israelis is not associated with distinctive histopathology
    R M Giusti
    J Med Genet 40:787-92. 2003
  32. pmc Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family
    D Gareth Evans
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital Manchester M13 0JH, UK
    BMC Cancer 8:155. 2008
    ..However, considerable controversy exists regarding the cancer risks in women who test positive for the family mutation...
  33. ncbi Locoregional relapse and distant metastasis in conservatively managed triple negative early-stage breast cancer
    Bruce G Haffty
    Department of Radiation Oncology, Cancer Institute of New Jersey, Robert Wood Johnson Medical School University of Medicine and Dentistry of New Jersey, New Brunswick, NJ 08903 2681, USA
    J Clin Oncol 24:5652-7. 2006
    ..To determine the prognostic significance of triple negative breast cancers with respect to locoregional relapse and distant metastasis in conservatively managed breast cancer patients...
  34. ncbi Roles of BRCA1 and BRCA2 in homologous recombination, DNA replication fidelity and the cellular response to ionizing radiation
    Simon N Powell
    Department of Radiation Oncology, Massachusetts General Hospital, Boston, MA 02114, USA
    Oncogene 22:5784-91. 2003
    ..The unsolved mystery is the other genetic changes that must occur to turn a BRCA-deficient cell from a nonviable cell into a tumor cell capable of endless growth...
  35. ncbi Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations
    Chiara Ghimenti
    Division of Pathology, Department of Oncology, Transplants and New Technologies in Medicine, University of Pisa, Pisa, Italy
    Genes Chromosomes Cancer 33:235-42. 2002
    ..In all cases, we were unable to find any evidence for allelic deletions. The involvement of BARD1 mutations in the susceptibility to hereditary breast and breast/ovarian cancer is discussed...
  36. ncbi Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
    James D Fackenthal
    Department of Medicine and Center for Clinical Cancer Genetics, University of Chicago, Box MC2115, 5841 S Maryland Avenue, Chicago, Illinois 60615, USA
    Nat Rev Cancer 7:937-48. 2007
    ..Although estimates of both mutation prevalence and mutation penetrance rates are inconsistent and occasionally controversial, understanding them is crucial for providing accurate risk information to each patient...
  37. ncbi Inherited predisposition and breast cancer: modifiers of BRCA1/2-associated breast cancer risk
    Timothy R Rebbeck
    Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine and Cancer Center, Philadelphia, Pennsylvania 19104 6021, USA
    Environ Mol Mutagen 39:228-34. 2002
    ..Therefore, although germline BRCA1/2 mutations raise a woman's breast and ovarian cancer risk, other factors may interact with BRCA1/2 mutations to modulate this risk...
  38. ncbi Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer
    Tomas Kirchhoff
    Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Natl Cancer Inst 96:68-70. 2004
    ..22 to 1.14). We thus recommend that counseling for colorectal cancer screening and prevention in individuals with BRCA mutations be based on the personal and family history of colorectal cancer or associated syndromic malignancies...
  39. ncbi Precursors to pelvic serous carcinoma and their clinical implications
    Ann K Folkins
    Division of Women s and Perinatal Pathology, Department of Pathology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Gynecol Oncol 113:391-6. 2009
    ..The data supporting a candidate precursor, the implications of these findings for early detection and prevention of pelvic serous carcinoma and the caveats, are discussed...
  40. ncbi Drug resistance caused by reversion mutation
    Alan Ashworth
    The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, Fulham Road, London, United Kingdom
    Cancer Res 68:10021-3. 2008
    Cells carrying mutated BRCA1 or BRCA2 genes are defective in DNA repair by homologous recombination and, as a consequence, are highly sensitive to inhibitors of poly (ADP-ribose) polymerase (PARP)...
  41. ncbi Heterogenic loss of the wild-type BRCA allele in human breast tumorigenesis
    Tari A King
    Department of Surgery, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA
    Ann Surg Oncol 14:2510-8. 2007
    ..However, several lines of evidence suggest that phenotypic effects may result from BRCA haploinsufficiency...
  42. ncbi Hereditary breast cancer growth rates and its impact on screening policy
    Madeleine M A Tilanus-Linthorst
    Department of Surgical Oncology, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Eur J Cancer 41:1610-7. 2005
    ..It is recommended that the screening frequency should be adjusted according to a woman's age and a high-sensitive biannual test may be appropriate before the age of 40 years...
  43. pmc The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions
    A C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Br J Cancer 98:1457-66. 2008
    ..BOADICEA can be used to predict carrier probabilities and cancer risks to individuals with any family history, and has been implemented in a user-friendly Web-based program (http://www.srl.cam.ac.uk/genepi/boadicea/boadicea_home.html)...
  44. ncbi BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives
    Fiona Lalloo
    Department of Clinical, Genetics and Academic Unit of Medical Genetics, St Mary s Hospital, Hathersage Road, Manchester M13 0JH, United Kingdom
    Eur J Cancer 42:1143-50. 2006
    ..The majority of families with ovarian cancer were due to mutations in BRCA1/2 whereas these mutations only accounted for 30-50% of the excess breast cancers...
  45. ncbi BRCA1 and BRCA2 mutations in women from Shanghai China
    Nicola M Suter
    Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
    Cancer Epidemiol Biomarkers Prev 13:181-9. 2004
    ..Most alterations observed appear unique to the Chinese population, suggesting a resource that will be useful for assessing risk among both Chinese women and United States women of Chinese descent...
  46. pmc Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort
    M Watson
    Department of Psychological Medicine, Royal Marsden NHS Foundation Trust, London and Sutton, SM2 5PT, England
    Br J Cancer 91:1787-94. 2004
    ..The data show persistent worry in younger female gene carriers and confirm changes in risk management consistent with carrier status. Men were not adversely affected by genetic testing in terms of their general mental health...
  47. ncbi BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure
    Haijuan Yang
    Department of Pharmacology, Sloan Kettering Division, Joan and Sanford I Weill Graduate School of Medical Sciences, Cornell University, New York, NY 10021, USA
    Science 297:1837-48. 2002
    ..These findings establish that BRCA2 functions directly in homologous recombination and provide a structural and biochemical basis for understanding the loss of recombination-mediated DSB repair in BRCA2-associated cancers...
  48. ncbi Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula
    A Vega
    Unidad de Medicina Molecular, Hospital de Conxo Universidad de Santiago de Compostela, Spain
    Ann Hum Genet 66:29-36. 2002
    ..29 from Galicia, NW Spain, and 1 from Catalonia, NE Spain) were screened for mutations in the BRCA1 and BRCA2 genes. The analysis of these genes was carried out by SSCP for shorter exons and direct sequencing in the case of ..
  49. ncbi Pathologic findings in prophylactic oophorectomy specimens in high-risk women
    Katherine Leeper
    University of Washington School of Medicine, Seattle, WA, USA
    Gynecol Oncol 87:52-6. 2002
    ..To ascertain the frequency of significant pathologic alterations in prophylactic oophorectomy specimens in high-risk women referred to a tertiary care center...
  50. ncbi The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified
    Wen Feng Li
    Department of Oncology, Breast Cancer Institute, Cancer Hospital Cancer Institute, Institutes of Biomedical Science, Shanghai Medical College, Fudan University, 270 Dong An Road, Shanghai 200032, PR China
    Breast Cancer Res Treat 110:99-109. 2008
    To have an overview of the role of BRCA1 and BRCA2 genes among Chinese high-risk breast cancer patients, we analyzed 489 such high-risk breast cancer patients from four breast disease clinical centers in China, by using PCR-DHPLC or SSCP-..
  51. pmc Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
    Am J Hum Genet 82:937-48. 2008
    ....
  52. ncbi Occult carcinoma in prophylactic oophorectomy specimens: prevalence and association with BRCA germline mutation status
    T J Colgan
    Mount Sinai Hospital and the Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada
    Am J Surg Pathol 25:1283-9. 2001
    ..The entire ovaries and tubes from PO patients should be submitted for histologic examination to identify malignancy...
  53. ncbi Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers
    Peter C Fong
    Drug Development Unit, Royal Marsden National Health Service Foundation Trust and the Institute of Cancer Research, Sutton, Surrey, United Kingdom
    N Engl J Med 361:123-34. 2009
    ..We conducted a clinical evaluation in humans of olaparib (AZD2281), a novel, potent, orally active PARP inhibitor...
  54. pmc A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes
    A C Antoniou
    CRC Genetic Epidemiology Unit, Institute of Public Health, Strangeways Research Laboratory, Worts Causeway, University of Cambridge, Cambridge CB1 8RN, UK
    Br J Cancer 86:76-83. 2002
    ..The modifying effect may explain the previously reported differences between population based estimates for BRCA1/2 penetrance and estimates based on high-risk families...
  55. ncbi Psychological impact of genetic testing in women from high-risk breast cancer families
    B Meiser
    Prince of Wales Clinical School, Faculty of Medicine, University of NSW, Australia
    Eur J Cancer 38:2025-31. 2002
    ..Women testing positive may anticipate a sustained increase in breast cancer distress following disclosure, although no other adverse psychological outcomes were observed in this group...
  56. ncbi BRCA1 and BRCA2: 1994 and beyond
    Steven A Narod
    Centre for Research on Women s Health, Sunnybrook and Womens College Health Sciences Center, 790 Bay Street, Toronto, Ontario M5G 1N8, Canada
    Nat Rev Cancer 4:665-76. 2004
    ..The ability to translate this knowledge into novel treatments, however, remains elusive...
  57. ncbi Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging
    Sylvia K Plevritis
    Department of Radiology, Division of Oncology, Center for Primary Care and Outcomes Research, Stanford University School of Medicine, Stanford, Calif 94305, USA
    JAMA 295:2374-84. 2006
    ..Screening with contrast-enhanced breast magnetic resonance imaging (MRI) detects cancer earlier but increases costs and results in more false-positive scans...
  58. ncbi Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada
    Harvey A Risch
    Department of Epidemiology and Public Health, Yale University School of Medicine, 60 College St, PO Box 208034, New Haven, CT 06520 8034, USA
    J Natl Cancer Inst 98:1694-706. 2006
    ..We investigated the presence of these mutations in unselected patients with newly diagnosed incident ovarian cancer in Ontario, Canada, with respect to cancers reported among their relatives...
  59. ncbi Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes
    Jesús del Valle
    Programa de Diagnòstic Molecular de Càncer Hereditari, Laboratori de Recerca Translacional, Institut Català d Oncologia IDIBELL, Hospital Duran i Reynals, Hospitalet de Llobregat, Gran Via s n, Km 2 7, L Hospitalet de Llobregat, 08907 Barcelona, Spain
    Breast Cancer Res Treat 122:733-43. 2010
    ..rearrangements are estimated to account for approximately 5-10% of all disease-causing mutations in BRCA1 and BRCA2 genes in patients with hereditary breast and ovarian cancer syndrome (HBOC)...
  60. ncbi Histopathologic features of genetically determined ovarian cancer
    P A Shaw
    Department of Pathology, University Health Network, University of Toronto, ON, Canada
    Int J Gynecol Pathol 21:407-11. 2002
    Inheritance of germline mutations of BRCA1 or BRCA2 genes account for approximately 10% of ovarian carcinomas, but the characterization of these genetically determined cancers is incomplete...
  61. ncbi Hallmarks of 'BRCAness' in sporadic cancers
    Nicholas Turner
    The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, Fulham Road, London SW3 6JB, UK
    Nat Rev Cancer 4:814-9. 2004
    ..These common properties might have important implications for the clinical management of these cancers...
  62. ncbi Uptake of risk-reducing surgery in unaffected women at high risk of breast and ovarian cancer is risk, age, and time dependent
    D Gareth R Evans
    Regional Genetic Service, The University of Manchester, St Mary s Hospital, Manchester, United Kingdom
    Cancer Epidemiol Biomarkers Prev 18:2318-24. 2009
    ..We have investigated the rate, timing, and age of uptake of surgery in the northwest of England to report the results after up to 7 years in a Regional Genetics center...
  63. pmc Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
    S V Tavtigian
    International Agency for Research on Cancer, 150 cours Albert Thomas, 69372 Lyon, France
    J Med Genet 43:295-305. 2006
    ..However, clinical testing methods with high sensitivity for deleterious mutations in these genes also detect many unclassified variants, primarily missense substitutions...
  64. pmc Novel de novo BRCA2 mutation in a patient with a family history of breast cancer
    Thomas V O Hansen
    Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark
    BMC Med Genet 9:58. 2008
    ..We describe the parental origin and functional characterization of a novel de novo BRCA2 splice site mutation found in a patient exhibiting a ductal carcinoma at the age of 40...
  65. ncbi Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India
    Suresh Hedau
    Division of Molecular Oncology, Institute of Cytology and Preventive Oncology ICMR, Maulana Azad Medical College Campus, New Delhi, 110 002, India
    Breast Cancer Res Treat 88:177-86. 2004
    ....
  66. pmc BRCA2 cooperates with histone acetyltransferases in androgen receptor-mediated transcription
    Sook Shin
    Laboratory of Genetics, The Salk Institute for Biological Sciences, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 100:7201-6. 2003
    ..As such, BRCA2 can exert its tumor suppressor function, in part, by modulating androgen signaling, which has been shown to be antiproliferative in a subset of breast cancer cells and particularly implicated in male breast tumors...
  67. pmc Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2
    David E Goldgar
    International Agency for Research on Cancer, Lyon, France
    Am J Hum Genet 75:535-44. 2004
    ..These results provide a demonstration of the utility of the model...
  68. ncbi Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene
    David J Hughes
    International Agency for Research on Cancer, Lyon, France
    Int J Cancer 117:230-3. 2005
    ....
  69. ncbi Breast imaging findings in women with BRCA1- and BRCA2-associated breast carcinoma
    L J Hamilton
    Nottingham Breast Institute, Nottingham City Hospital, Nottingham, UK
    Clin Radiol 59:895-902. 2004
    ..To document the breast imaging findings of women with BRCA1 and BRCA2-associated breast carcinoma...
  70. ncbi 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
    ....
  71. pmc Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families
    D G R Evans
    Academic Unit of Medical Genetics, Regional Genetics Service and National Genetics Reference Laboratory, St Mary s Hospital, Manchester M13 0JH, UK
    J Med Genet 41:e21. 2004
  72. ncbi Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations
    Fabio Marroni
    Department of Oncology, Transplants and New Technologies in Medicine, Section of Pathology, University of Pisa, Pisa, Italy
    Eur J Hum Genet 12:899-906. 2004
    ..Our approach could lead to country-customized versions of the BRCAPRO software by providing appropriate population-specific estimates...
  73. ncbi Prevention of breast cancer in women who carry BRCA1 or BRCA2 mutations: a critical review of the literature
    Ronit Calderon-Margalit
    Hadassah Hebrew University Braun School of Public Health and Community Medicine, Jerusalem, Israel
    Int J Cancer 112:357-64. 2004
    ..There is a pressing need for more studies in order to determine which of the 4 strategies alone, or in combination, is the most effective for the prevention of breast cancer and for the improvement of survival of BRCA mutation carriers...
  74. ncbi Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma: 10-year follow up data
    John R Goffin
    Department of Oncology, McGill University, Montreal, Quebec, Canada
    Cancer 97:527-36. 2003
    ..The joint effect of both abnormalities has not been studied. The primary objective of this study was to assess the impact of germline BRCA1 mutations and p53 overexpression on survival after 10 years of follow-up...
  75. ncbi BRCA1 and BRCA2 mutations in an Asian clinic-based population detected using a comprehensive strategy
    Peter Ang
    Department of Medical Oncology, Division of Medical Sciences, National Cancer Center, Singapore 169610, Singapore
    Cancer Epidemiol Biomarkers Prev 16:2276-84. 2007
    Genetic testing for germ line mutations in the BRCA1 and BRCA2 genes for some families at high risk for breast and/or ovarian cancer may yield negative results due to unidentified mutations or mutations with unknown clinical significance...
  76. ncbi Coffee consumption and breast cancer risk among BRCA1 and BRCA2 mutation carriers
    Andre Nkondjock
    Epidemiology Research Unit, Research Centre, Centre Hospitalier de Universitaire de Montréal, CHUM Hotel Dieu, Montreal, Canada
    Int J Cancer 118:103-7. 2006
    ..These results suggest that among women with BRCA gene mutation, coffee consumption is unlikely to be harmful and that high levels of consumption may in fact be related to reduced breast cancer risk...
  77. pmc Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families
    Kathleen K Oros
    Department of Human Genetics, McGill University, Montreal, Canada
    BMC Med Genet 7:23. 2006
    ....
  78. pmc The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation
    E Sermijn
    J Med Genet 41:e23. 2004
  79. ncbi Cancer variation associated with the position of the mutation in the BRCA2 gene
    Jan Lubinski
    Hereditary Cancer Center Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
    Fam Cancer 3:1-10. 2004
    ..0; P = 0.03) compared to families of other ethnic origins. In conclusion, both the position of mutation and the ethnic background of the family appear to contribute to the phenotypic variation observed in families with BRCA2 mutations...
  80. ncbi Assessing BRCA carrier probabilities in extended families
    Carlos H Barcenas
    Department of Epidemiology, The University of Texas M D Anderson Cancer Center, Houston, TX 77030 4009, USA
    J Clin Oncol 24:354-60. 2006
    ..We also studied the effect of extended family information on risk estimation using BOADICEA...
  81. ncbi Breast cancer screening, outside the population-screening program, of women from breast cancer families without proven BRCA1/BRCA2 mutations: a simulation study
    Catharina E Jacobi
    Department of Medical Decision Making J10 S, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    Cancer Epidemiol Biomarkers Prev 15:429-36. 2006
    ....
  82. ncbi Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women
    Tal Distelman-Menachem
    Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, Israel
    Fam Cancer 8:127-33. 2009
    ..The contribution of major gene rearrangements and seemingly pathogenic missense mutations to inherited breast cancer predisposition has never been systematically evaluated in Ashkenazim...
  83. ncbi The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping
    Thomas V O Hansen
    Department of Clinical Biochemistry 4111, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
    Breast Cancer Res Treat 119:547-50. 2010
    ..We therefore conclude that the BRCA2 silent mutation Lys172Lys is a disease-causing mutation...
  84. pmc BRCA1 and BRCA2 germline mutation analysis in the Indonesian population
    Dewajani Purnomosari
    Department of Histology and Cell Biology, Faculty of Medicine, Gadjah Mada University, Jogjakarta, Indonesia
    Breast Cancer Res Treat 106:297-304. 2007
    Specific mutations in BRCA1 and BRCA2 genes have been identified in specific populations and ethnic groups. However, little is known about the contribution of BRCA1 and BRCA2 mutations to breast cancers in the Indonesian population...
  85. ncbi BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy
    Laura Ottini
    Department of Experimental Medicine and Pathology, University La Sapienza, 00161 Roma, Italy
    Cancer Res 63:342-7. 2003
    ..This suggests that phenotypic characteristics may contribute to the identification of hereditary BRCA2-related male breast cancers and that these tumors might share a unique molecular pathway of cancer progression...
  86. ncbi Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype
    Efrat Dagan
    Institute of Human Genetics, Rambam Medical Center, Haifa, Israel
    Eur J Hum Genet 10:724-8. 2002
    ..A small effect of a short AR CAG allele size on breast cancer at early age (<42 years) cannot be excluded...
  87. ncbi Risk of cancer at sites other than the breast in Swedish families eligible for BRCA1 or BRCA2 mutation testing
    J Lorenzo Bermejo
    Division of Molecular Genetic Epidemiology, German Cancer Research Centre DKFZ, Heidelberg, Germany
    Ann Oncol 15:1834-41. 2004
    ....
  88. ncbi Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics
    Clare L Scott
    Department of Haematology and Medical Oncology, Peter MacCallum Cancer Institute, Melbourne, Victoria, Australia
    Hum Genet 112:542-51. 2003
    ..The issue of the pathogenicity of specific variants may be addressed analytically providing there are one or more suitably informative families with that mutation...
  89. ncbi [Germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in China Han people]
    Yuan zheng Zhou
    Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Beijing 100730, China
    Zhonghua Yi Xue Za Zhi 84:294-8. 2004
    ..To detect BRCA1 and BRCA2 gene germline mutation in the Chinese breast cancer families...
  90. ncbi Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects
    Orland Diez
    Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Hum Mutat 22:301-12. 2003
    ..cancer families and 214 patients (19 of them males) with breast cancer for germ-line mutations in the BRCA1 and BRCA2 genes, using SSCP, PTT, CSGE, DGGE, and direct sequencing. We identified 60 mutations in BRCA1 and 53 in BRCA2...
  91. ncbi Ovarian cancer and genetic susceptibility in relation to the BRCA1 and BRCA2 genes. Occurrence, clinical importance and intervention
    Marie Søgaard
    Department of Virus, Hormones and Cancer, Institute of Cancer Epidemiology, Danish Cancer Society, Copenhagen, Denmark
    Acta Obstet Gynecol Scand 85:93-105. 2006
    ..on genetic susceptibility to ovarian cancer, and the clinical implications in relation to the BRCAI and BRCA2 genes. One of the strongest risk factors for ovarian cancer is a family history of ovarian and/or early-onset breast ..
  92. ncbi Mutational analysis of BRCA1 and BRCA2 genes in Mexican breast cancer patients
    S Vidal-Millan
    Laboratory of Molecular Genetics and Pharmacogenetics, Instituto Nacional de Cancerologia, Mexico
    Eur J Gynaecol Oncol 30:527-30. 2009
    Germline mutations in the BRCA1 and BRCA2 genes predispose to breast and ovarian cancer. A variable incidence of mutations has been reported for these genes...
  93. pmc Heritable breast cancer in twins
    T M Mack
    Department of Preventive Medicine, University of Southern California Keck School of Medicine, Norris Comprehensive Cancer Center, 1441 Eastlake Avenue MC9175, Los Angeles, California, CA 90089 9175, USA
    Br J Cancer 87:294-300. 2002
    ..The resultant class of disease accounts for a larger proportion of all breast cancers than previously thought, with a rather high overall penetrance. Some of the biological characteristics differ from those of breast cancer generally...
  94. ncbi BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy
    L Stuppia
    Dipartimenti di Scienze Biomediche, Universita G D Annunzio, Chieti, Italy
    Hum Mutat 22:178-9. 2003
    ..7%). However, if considering only patients with a carrier probability >10%, the detection rate was 36.8%, confirming the usefulness of the BRCAPRO software. One change (BRCA1 4172insT) was a novel mutation not reported in BIC database...
  95. ncbi Improved survival in women with BRCA-associated ovarian carcinoma
    Ilana Cass
    Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Cedars Sinai Medical Center and University of California Los Angeles School of Medicine, Los Angeles, California 90048, USAA
    Cancer 97:2187-95. 2003
    ..The objective of this study was to determine the clinical characteristics, treatment response, and frequency of p53 overexpression in Ashkenazi Jewish women with hereditary ovarian carcinoma...
  96. ncbi BRCA1 and BRCA2: chemosensitivity, treatment outcomes and prognosis
    William D Foulkes
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada, H2W 1S6
    Fam Cancer 5:135-42. 2006
    ..There are no published prospective studies. It is hoped that, in the near future, randomised controlled trials will be started with the aim of answering these important clinical questions...
  97. ncbi Understanding breast cancer risk -- where do we stand in 2005?
    R G Dumitrescu
    Georgetown University Medical Center, Lombardi Comprehensive Cancer Center, Washington, DC 20057, USA
    J Cell Mol Med 9:208-21. 2005
    ..All these factors contribute to a better understanding of breast cancer risk. Nonetheless, in order to evaluate more accurately the overall risk of breast tumorigenesis, novel genetic and phenotypic traits need to be identified...
  98. ncbi Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations
    Gad Rennert
    Clalit Health Services, National Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B Rappaport Faculty of Medicine, Technion, Haifa, Israel
    N Engl J Med 357:115-23. 2007
    ..We conducted a national population-based study of Israeli women to determine the influence, if any, of a BRCA1 or a BRCA2 mutation on the prognosis in breast cancer...
  99. ncbi Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group
    Timothy R Rebbeck
    Center for Clinical Epidemiology and Biostatistics, Abramson Family Cancer Research Institute, The University of Pennsylvania, Philadelphia, PA 19104 6021, USA
    J Clin Oncol 22:1055-62. 2004
    ..Thus, we estimated the degree of breast cancer risk reduction after surgery in women who carry these mutations...
  100. ncbi BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases
    Tuya Pal
    Division of Cancer Prevention and Control, H Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33617, USA
    Cancer 104:2807-16. 2005
    ..To address this gap, the authors conducted a population-based study of 232 incident epithelial ovarian carcinomas in the Tampa Bay area...
  101. ncbi Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization
    Goran Jonsson
    Department of Oncology, University Hospital, Lund, Sweden
    Cancer Res 65:7612-21. 2005
    ..00005, respectively). Further validation may prove this tumor classifier to be useful for selecting familial breast cancer cases for further mutation screening, particularly, as these data can be obtained using archival tissue...

Research Grants62

  1. Early Detection of Pancreatic Cancer Using Ice COLD-PCR
    Grant 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. The lack of symptoms in the early stages means that patients go undetected until the later stages when ..
  2. Exploration of Genome Stability as a Therapeutic Target in Cancer
    Rahul Nene; Fiscal Year: 2013
    ..The success of poly(ADP-ribose) polymerase (PARP) inhibitors against cancers with defects in the BRCA1 and BRCA2 genes demonstrates that a synthetic lethality inspired approach can be successful in the context of defects in double-..
  3. Adherence to Cancer Risk Management Among Unaffected BRCA1/2Mutation Carriers
    Adam H Buchanan; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Inherited mutations in the BRCA1 and BRCA2 genes lead to significantly increased cancer risks (up to 66% and 46% for lifetime breast and ovarian cancer risks, respectively)...
  4. Obesity susceptibility loci and breast cancer risk in BRCA1 and BRCA2 mutation ca
    JONATHAN ANDREW MITCHELL; Fiscal Year: 2013
    ..The risk of breast cancer is high among female carriers of mutations in the BRCA1 and BRCA2 genes. However, there is high inter-individual variance with regard to breast cancer risk among BRCA1/2 carriers...
  5. Consortium Study to Identify Breast Cancer Susceptibility Loci
    Wei Zheng; Fiscal Year: 2013
    ..genetic factors, along with high-penetrance susceptibility genes reported previously (such as the BRCA1 and BRCA2 genes), explain only a small fraction of genetic variation for breast cancer...
  6. BRCA1 and BRCA2 missense mutations and breast cancer risk
    FERGUS JOSEPH COUCH; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Women with germline inactivating mutations in the BRCA1 and BRCA2 genes are at significantly elevated risk of breast and ovarian cancer...
  7. INHERITED BREAST CANCER IN CHINESE WOMEN
    Elaine Ostrander; Fiscal Year: 1999
    ..Mutations in the BRCA1 and BRCA2 genes have all been associated with breast cancer in high risk families, that include multiple cases of apparently ..
  8. DOUBLE STRAND BREAKS AND HETERODUPLEX DNA IN YEAST
    Andrew Vershon; Fiscal Year: 2001
    ..that human Rad51p, a central protein in recombinational repair, is associated in vivo with the BRCA1 and BRCA2 genes, suggesting that breast cancer results from a defect in recombinational repair...
  9. GENETIC ABNORMALITIES EARLY ON THE PATH OF BREAST CANCER
    Carol Rosenberg; Fiscal Year: 2004
    ..with sporadic breast cancer; and 2) premenopausal women with a heritable, constitutional mutation in BRCA1 or BRCA2 genes. Dr...
  10. Molecular Test for Inherited Mutations in Breast Cancer
    Sadanand Gite; Fiscal Year: 2004
    ..cancers are sporadic (not inherited), approximately 10 percent are due to inherited mutations in the BRCA1 and BRCA2 genes. Population studies show that mutations in these genes lead to a lifetime risk of approximately 80 percent for ..
  11. MUTATIONS CAUSED BY LINE 1 TRANSPOSONS IN BREAST CANCER
    Gary Swergold; Fiscal Year: 2001
    ..1) A large fraction of hereditary breast cancers are the result of mutations in either the BRCA1 or BRCA2 genes. The BRCA1/2 proteins are involved in the repair of DNA double strand breaks (DSB)...
  12. Multi-Dimensional Cultural Values
    Chanita Hughes Halbert; Fiscal Year: 2009
    ..This study will provide a psychometrically sound instrument that can be used in clinical and research settings to provide culturally sensitive care and interventions to ethnically and racially diverse populations. ..
  13. Weight Gain in African American Breast Cancer Survivors
    Chanita Hughes Halbert; Fiscal Year: 2005
    ..abstract_text> ..
  14. African American Participation in Cancer Genetics Research
    Chanita Hughes Halbert; Fiscal Year: 2009
    ..This study will provide empirical data that can be used to develop more effective strategies for recruiting African Americans to participate in cancer genetics research that enhance decisions about study participation. ..
  15. Telephone-Based Genetic Counseling: An Equivalence Trial
    Marc Schwartz; Fiscal Year: 2008
    ..abstract_text> ..
  16. INTERACTIVE DECISION AID FOR BRCA 1/2 MUTATION CARRIERS
    Marc Schwartz; Fiscal Year: 2003
    ..If effective, the IDA can easily be disseminated to BRCA1/2 carriers across the country and adapted for use with other populations with inherited risk for cancer. ..
  17. INTERNET INTERVENTION FOR BRCA1/BRCA2 UNINFORMATIVES
    Marc D Schwartz; Fiscal Year: 2010
    ....
  18. Decisions & Outcomes of BRCA1/2 Test for Breast Patients
    Marc Schwartz; Fiscal Year: 2008
    ..UC on quality of life and psychosocial well-being; 3) To identify baseline factors that predict who is most and least likely to benefit from RGC; and 4) to evaluate the cost effectiveness of the RGC intervention. ..
  19. Distrust, Race/Ethnicity, and Predictive Genetic Testing
    Katrina Armstrong; Fiscal Year: 2005
    ....
  20. Race,Treatment and Endometrial Cancer Survival
    Katrina Armstrong; Fiscal Year: 2005
    ..In addition, within each category, we will investigate differences related to primary surgery and adjuvant radiation therapy. ..
  21. Cultural Model of Prevention in African-American Women
    Katrina Armstrong; Fiscal Year: 2004
    ..This understanding may lay the groundwork for improved understanding and trust between biomedical practitioners and African American patients. ..
  22. PHENOTYPIC AND PSYCHOSOCIAL STUDY OF THE L1307K MUTATION
    Henry Lynch; Fiscal Year: 2004
    ....
  23. Pharmacogenetic Epidemiology of Birth Defects and Cancer
    Timothy Rebbeck; Fiscal Year: 2004
    ....
  24. BRCA1/2 Education for Mothers and Their Teen Daughters
    BETH PESHKIN; Fiscal Year: 2006
    ..It is expected that with respect to issues surrounding hereditary cancer susceptibility, the resource will result in improved knowledge, communication, and support among mothers and their teenage daughters. ..
  25. AUSTRALASIAN COLORECTAL CANCER FAMILY REGISTRY
    John Hopper; Fiscal Year: 2007
    ..i ..
  26. Genetics of Breast Cancer in Blacks
    Olufunmilayo Olopade; Fiscal Year: 2006
    ..With the cloning of BRCA1 and BRCA2 genes, there is an urgent need to identify mutations among different ethnic populations in order to study mutation ..
  27. IMRT in the Treatment of Node-Positive Breast Cancer
    Lori Pierce; Fiscal Year: 2003
    ..4) Determine the effect of motion on static IMRT and PWTF dose distributions, and then correct/adjust for motion to determine the best delivery-optimized plan. ..
  28. IMRT in the Treatment of Node-Positive Breast Cancer
    Lori Pierce; Fiscal Year: 2006
    ..3) Study 60 patients treated with either the best delivery-optimized motion corrected plan from Aim 2 or PWTF and compare plans using heart and lung metrics. ..
  29. Prophytactic surgery in carriers of BRCA 1/2 mutations
    Timothy R Rebbeck; Fiscal Year: 2010
    ..These studies will motivate future studies of BRCA1/2-associated breast tumor biology, prevention, and treatment. ..
  30. ETIOLOGIC HETEROGENEITY IN LATE ONSET BREAST CANCER
    Timothy Rebbeck; Fiscal Year: 2001
    ..The results of these analyses will be used to attempt to elucidate the complex, multifactorial aetiology of late onset breast cancer. ..
  31. Ethnic difference in prostate cancer
    Timothy R Rebbeck; Fiscal Year: 2010
    ....
  32. Modifiers of Cancer Risk in BRCA 1/2 Mutation Carriers
    Timothy Rebbeck; Fiscal Year: 2008
    ..Our substantial multidisciplinary experience will therefore allow us to readily translate basic science and epidemiological data to clinically relevant information. ..
  33. Pediatric Cancer Prevention and Control
    KENNETH TERCYAK; Fiscal Year: 2006
    ..I expect that this intervention will lead to the development of an R01 grant to evaluate the effectiveness of alternate interventions for pediatric smoking cessation in medical and other settings. ..
  34. Ovarian Cancer and Mismatch Repair Deficiency
    Tuya Pal; Fiscal Year: 2009
    ..abstract_text> ..
  35. Epithelial-stromal cell interactions in breast cancer
    Kornelia Polyak; Fiscal Year: 2010
    ....
  36. Genetics of Hearing Loss in Middle Eastern Families
    Mary Claire King; Fiscal Year: 2010
    ....
  37. Parent Communication of BRCA1/2 Test Results to Children
    KENNETH TERCYAK; Fiscal Year: 2009
    ..Findings generated in this area offer a new paradigm within which to view and understand the psychosocial outcomes of predictive testing among tested parents and their nontested children. ..
  38. P21 INDUCTION BY BRCA2
    Fergus Couch; Fiscal Year: 2002
    ....
  39. Statistical Methods for Identifying Clonal Tumors
    Colin B Begg; Fiscal Year: 2011
    ....
  40. Cellular gene expression in HPV associated neoplasia
    Christopher Crum; Fiscal Year: 2002
    ..Such methods, if successful, could conceivably revolutionize the approach to cervical cancer prevention by broadening the conditions under which screening could be conducted. ..
  41. Minicomputer Upgrade for the Clinical Resarch Database
    Colin Begg; Fiscal Year: 2002
    ..This proposal is a request for funds to upgrade the hardware platform once again to maintain the performance of the system in the face of these rapidly increasing demands. ..
  42. DFNA1 IN INHERITED HEARING LOSS
    Mary Claire King; Fiscal Year: 2001
    ....
  43. FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUP
    Noralane Lindor; Fiscal Year: 2007
    ..fs20\par \par } ..
  44. GENETIC ANALYSIS OF BREAST AND OVARIAN CANCER
    Mary Claire King; Fiscal Year: 2001
    ..The intent of this project is to exploit genomic technologies to integrate the identification of genes biologically related to BRCA1 with characterization of those genes in human tumors and families. ..
  45. Characterization of the Chromosome 17q23 Amplicon
    Fergus Couch; Fiscal Year: 2006
    ..Thus, the project may involve a complete transition from benchtop to bedside. Finally, the amplified and overexpressed genes may prove useful as important targets of gene, pharmacological, and immunological therapy in the future. ..
  46. CLINICAL CANCER GENETICS EDUCATION
    Jeffrey Weitzel; Fiscal Year: 2005
    ..abstract_text> ..
  47. HIN-1,A Novel Putative Breast Tumor Suppressor Gene
    Kornelia Polyak; Fiscal Year: 2006
    ..abstract_text> ..
  48. Epidemiologic Parameters of Rare Cancer Risk Factors
    Colin Begg; Fiscal Year: 2005
    ..All of these aims are motivated by an international study of the genetic epidemiology of melanoma that is currently in progress. ..
  49. Genetic and Epigenetic Markers in Ovarian Cancer
    Elizabeth Swisher; Fiscal Year: 2006
    ..These studies may identify new prognostic or diagnostic markers in ovarian cancer. Such markers could then be tested in prospective trials to determine their clinical utility. ..
  50. Structural, Computational and Epidemiologic Analyses of*
    Noah Kauff; Fiscal Year: 2006
    ..abstract_text> ..
  51. A Telephone-Based Cancer Education & Prevention Intervention for Teens
    KENNETH TERCYAK; Fiscal Year: 2007
    ..Additionally, this study will lay the foundation for future, larger studies of intervention effectiveness, reach, and impact in this population. [unreadable] [unreadable] [unreadable]..
  52. The role of the ATM gene in familial breast cancer
    Georgia Chenevix Trench; Fiscal Year: 2008
    ..The results of this research may directly affect treatment decisions, and improve preventive monitoring in high-risk families. [unreadable] [unreadable]..
  53. Genetic Discrimination Knowledge in Primary Care
    Jeffrey Weitzel; Fiscal Year: 2004
    ..Because genetic testing for hereditary cancer represents a new paradigm for predictive genetic testing in other adult onset disorders, the results of the proposed study will potentially have broad-based implications. ..
  54. A Method for Validating Gene - Disease Associations
    Colin Begg; Fiscal Year: 2004
    ..abstract_text> ..
  55. Breast Cancer Genomics in a Founder Population
    Mary Claire King; Fiscal Year: 2008
    ..Discovery of additional breast cancer genes of moderate penetrance in the AJ population will be important to women both in this population and generally. ..
  56. PROPHYLCTIC MASTECTOMY IN HEREDITARY BREAST CANCER
    Lynn Hartmann; Fiscal Year: 2002
    ..We will also define short- and long-term complications following PM. ..
  57. Improving Marital Support For Couples Coping with Cancer
    Sharon Manne; Fiscal Year: 2008
    ..abstract_text> ..
  58. CASE CONTROL STUDY OF OVARIAN CANCER HORMONAL ETIOLOGY
    Harvey Risch; Fiscal Year: 2002
    ....
  59. Adiposity Related Biomarkers and Breast Tumor Size
    Kathleen Malone; Fiscal Year: 2002
    ..Findings from this study could begin to clarify a mechanism by which adiposity affects prognosis from breast cancer. ..
  60. Serum Markers of Breast /Ovarian Cancer Risk
    Francesmary Modugno; Fiscal Year: 2003
    ..We also expect to identify additional related research questions, which we anticipate studying further in a multi-center, collaborative fashion within the various arms of the WHI. ..
  61. S Checkpoint Function in Human Fibroblasts
    William Kaufmann; Fiscal Year: 2004
    ..This project will define genetic components of the S checkpoint and elucidate signal transduction mechanisms that underlie S checkpoint response in diploid human fibroblasts. ..