Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families (original) (raw)

Two founding mutations in BRCA1 and BRCA2 are responsible for a large proportion of Jewish families with the breast-ovarian cancer syndrome.

References

  1. Ford, D. et al. Risks of cancer in _BRCA1_mutation carriers. Lancet 343, 692–695 (1994).
    Article CAS PubMed Google Scholar
  2. Tonin, P. et al. A large multisite cancer family is linked to BRCA2 . J. Med. Genet. 32, 982–984 (1995).
    Article CAS PubMed PubMed Central Google Scholar
  3. Berman, D.B. et al. A common mutation in _BRCA2_that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals. Cancer Res. 56, 3409–3414 (1996).
    CAS PubMed Google Scholar
  4. Phelan, C. et al. Mutation analysis of the _BRCA2_gene in 49 site-specific breast cancer families. Nature Genet. 13, 120–122 (1996).
    Article CAS PubMed Google Scholar
  5. Miki, Y. et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 . Science 266, 66–71 (1994).
    Article CAS PubMed Google Scholar
  6. Tavtigian, S.V. et al. The complete _BRCA2_gene and mutations in chromosome 13q-linked kindreds. Nature Genet. 12, 333–337 (1996).
    Article CAS PubMed Google Scholar
  7. Couch, F.J., Weber, B.L. and the Breast Cancer Information Core. Mutations and polymorphisms in the familial early onset breast cancer (BRCA1) gene. Hum. Mutat. (in the press).
  8. Struewing, J.P. et al. Detection of eight _BRCA1_mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am. J. Hum. Genet. 57, 1–7 (1995).
    Article CAS PubMed PubMed Central Google Scholar
  9. Tonin, P. et al. BRCA1 mutations in Ashkenazi Jewish women. Am. J. Hum. Genet. 57, 189 (1995).
    CAS PubMed PubMed Central Google Scholar
  10. Fitzgerald, M.G. et al. Germline _BRCA1_mutations in Jewish and non-Jewish women with early-onset breast cancer. N. Engl. J. Med. 334, 143–149 (1996).
    Article CAS PubMed Google Scholar
  11. Berman, D. et al. Two distinct origins of a common _BRCA1_mutation in breast-ovarian cancer families: A genetic study of 15 185delAG mutation kindreds. Am. J. Hum. Genet. 58, 1166–1176 (1996).
    CAS PubMed PubMed Central Google Scholar
  12. Neuhausen, S. et al. Recurrent _BRCA2_6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nature Genet. 13, 126–128 (1996).
    Article CAS PubMed Google Scholar
  13. Oddoux, C. et al. The carrier frequency of the _BRCA2_6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nature Genet. 14, 188–190 (1996).
    Article CAS PubMed Google Scholar
  14. Roa, B.B., Boyd, A.A., Volcik, K. & Richards, C.S., Jewish population frequencies for common mutations in _BRCA1_and BRCA2 . Nature Genet. 14, 185–187 (1996).
    Article CAS PubMed Google Scholar
  15. Struewing, J.P. et al. The carrier frequency of the _BRCA1_185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature Genet. 11, 189–200 (1995).
    Article Google Scholar
  16. Easton, D.F., Ford, D., Bishop, D.T. and the Breast Cancer Linkage Consortium. Breast and ovarian cancer incidence in _BRCA1_mutation carriers. Am. J. Hum. Genet. 56, 256–271 (1995).
    Google Scholar
  17. Egan, K.M. et al. Jewish religion and risk of breast cancer. Lancet 347, 1645–1646 (1996).
    Article CAS PubMed Google Scholar
  18. Offit, K. et al. Germline _BRCA1_185delAG mutations in Jewish women affected by breast cancer. Lancet 347, 1643–1645 (1996).
    Article CAS PubMed Google Scholar
  19. Wooster, R. et al. Identification of the breast cancer susceptibility gene BRCA2 . Nature 376, 789–792 (1995).
    Article Google Scholar
  20. Couch, F.J. et al. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nature Genet. 13, 123–125 (1996).
    Article CAS PubMed Google Scholar
  21. Gayther, S.A. et al. Germline mutations of the _BRCA1_gene in breast/ovarian cancer families provide evidence for a genotype/phenotype correlation. Nature Genet. 11, 428–433 (1995).
    Article CAS PubMed Google Scholar
  22. Phelan, C.M. et al. Ovarian cancer risk in _BRCA1_carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nature Genet. 12, 309–311 (1996).
    Article CAS PubMed Google Scholar
  23. Holt, J.T. et al. Growth retardation and tumour inhibition by BRCA1 . Nature Genet. 12, 298–302 (1996).
    Article CAS PubMed Google Scholar
  24. Narod, S. et al. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Am. J. Hum. Genet. 56, 254–264 (1995).
    CAS PubMed PubMed Central Google Scholar
  25. Thorlacius, S. et al. A single _BRCA2_mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nature Genet. 13, 117–119 (1996).
    Article CAS PubMed Google Scholar

Download references

Author information

Authors and Affiliations

  1. Department of Medicine, Division of Medical Genetics, and Department of Human Genetics, McGill University and Montreal General Hospital Research Institute, 1650 Cedar Avenue, Montreal, Canada, H3G 1A4
    P. Tonin
  2. Departments of Medicine and Genetics, University of Pennsylvania, 3400 Spruce Street, Philadelphia, Pennsylvania, 19104, USA
    B. Weber & F. Couch
  3. Clinical Genetics Service, Department of Human Genetics, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue New York, New York, 10021, USA
    K. Offit
  4. Departments of Biostatistics and Epidemiology, University of Pennsylvania, 423 Guardian Drive, Philadelphia, Pennsylvania, 19104, USA
    T.R. Rebbeck
  5. Genetic Epidemiology Group, Department of Medical Informatics, University of Utah, 391 Chipeta Way, Salt Lake City, Utah, 84108, USA
    S. Neuhausen
  6. Divisions of Basic Science, 7701 Bumholme Avenue, Philadelphia, Pennsylvania, 19111, USA
    A.K. Godwin & D. Berman
  7. Population Science, Fox Chase Cancer Center, 7701 Bumholme Avenue, Philadelphia, Pennsylvania, 19111, USA
    M. Daly & J. Wagner-Costalos
  8. Department of Medicine, Division of Hematology/Oncology, Cooper Hospital, 1 Cooper Plaza, Camden, New Jersey, 08103, USA
    G. Grana
  9. Division of Human Cancer Genetics, Dana-Farber Cancer Institute, 44 Binney Street, Boston, Massachusetts, 02115, USA
    E. Fox, M.F. Kane & R.D. Kolodner
  10. Center for Cancer Risk Analysis, Massachusetts General Hospital, Cancer Center Charlestown, Massachusetts, 02129, USA
    M. Krainer & D.A. Haber
  11. Genetic Epidemiology Branch, National Cancer Institute and Laboratory of Gene Transfer, National Center for Human Genome Research, National Institutes of Health, 6310 Executive Boulevard, Bethesda, Maryland, 20892, USA
    J.P. Struewing
  12. Division of Medical Oncology, Toronto-Sunnybrook Regional Cancer Center, 2075 Bayview Avenue, Toronto, Canada, M4N 3M5
    E. Warner
  13. Department of Obstetrics and Gynecology, The Toronto Hospital, 200 Elizabeth Street, Toronto, Canada, MSG 2C4
    B. Rosen
  14. Lombardi Cancer Center, Georgetown University Medical Center, 2233 Wisconsin Avenue, Washington, DC, 20007, USA
    C. Lerman & B. Peshkin
  15. Breast Cancer Medicine Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, New York, 10021, USA
    L. Norton
  16. International Agency for Research on Cancer, 150 Cours, Albert Thomas, 69372, Lyon, France
    O. Serova & G.M. Lenoir
  17. Cancer Prevention Research Unit, Sir M.B. Davis Jewish General Hospital, Montreal, Quebec, Canada, H3T1E2
    W.D. Foulkes
  18. Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebraska, 68178, USA
    H.T. Lynch
  19. Department of Medicine, Women's College Hospital, University of Toronto, 790 Bay Street, Room 750, Toronto, Ontario, Canada, M5G 1N8
    S.A. Narod
  20. Division of Cancer Epidemiology and Control, Dana-Farber Cancer Institute, 44 Binney Street, Boston, Massachusetts, 02115, USA
    J.E. Garber

Authors

  1. P. Tonin
    You can also search for this author inPubMed Google Scholar
  2. B. Weber
    You can also search for this author inPubMed Google Scholar
  3. K. Offit
    You can also search for this author inPubMed Google Scholar
  4. F. Couch
    You can also search for this author inPubMed Google Scholar
  5. T.R. Rebbeck
    You can also search for this author inPubMed Google Scholar
  6. S. Neuhausen
    You can also search for this author inPubMed Google Scholar
  7. A.K. Godwin
    You can also search for this author inPubMed Google Scholar
  8. M. Daly
    You can also search for this author inPubMed Google Scholar
  9. J. Wagner-Costalos
    You can also search for this author inPubMed Google Scholar
  10. D. Berman
    You can also search for this author inPubMed Google Scholar
  11. G. Grana
    You can also search for this author inPubMed Google Scholar
  12. E. Fox
    You can also search for this author inPubMed Google Scholar
  13. M.F. Kane
    You can also search for this author inPubMed Google Scholar
  14. R.D. Kolodner
    You can also search for this author inPubMed Google Scholar
  15. M. Krainer
    You can also search for this author inPubMed Google Scholar
  16. D.A. Haber
    You can also search for this author inPubMed Google Scholar
  17. J.P. Struewing
    You can also search for this author inPubMed Google Scholar
  18. E. Warner
    You can also search for this author inPubMed Google Scholar
  19. B. Rosen
    You can also search for this author inPubMed Google Scholar
  20. C. Lerman
    You can also search for this author inPubMed Google Scholar
  21. B. Peshkin
    You can also search for this author inPubMed Google Scholar
  22. L. Norton
    You can also search for this author inPubMed Google Scholar
  23. O. Serova
    You can also search for this author inPubMed Google Scholar
  24. W.D. Foulkes
    You can also search for this author inPubMed Google Scholar
  25. H.T. Lynch
    You can also search for this author inPubMed Google Scholar
  26. G.M. Lenoir
    You can also search for this author inPubMed Google Scholar
  27. S.A. Narod
    You can also search for this author inPubMed Google Scholar
  28. J.E. Garber
    You can also search for this author inPubMed Google Scholar

Rights and permissions

About this article

Cite this article

Tonin, P., Weber, B., Offit, K. et al. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families.Nat Med 2, 1179–1183 (1996). https://doi.org/10.1038/nm1196-1179

Download citation