Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families

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

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

References

  1. 1

    Ford, D. et al. Risks of cancer in BRCA1mutation carriers. Lancet 343, 692–695 (1994).

    CAS  Article  Google Scholar 

  2. 2

    Tonin, P. et al. A large multisite cancer family is linked to BRCA2 . J. Med. Genet. 32, 982–984 (1995).

    CAS  Article  Google Scholar 

  3. 3

    Berman, D.B. et al. A common mutation in BRCA2that 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. 4

    Phelan, C. et al. Mutation analysis of the BRCA2gene in 49 site-specific breast cancer families. Nature Genet. 13, 120–122 (1996).

    CAS  Article  Google Scholar 

  5. 5

    Miki, Y. et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 . Science 266, 66–71 (1994).

    CAS  Article  Google Scholar 

  6. 6

    Tavtigian, S.V. et al. The complete BRCA2gene and mutations in chromosome 13q-linked kindreds. Nature Genet. 12, 333–337 (1996).

    CAS  Article  Google Scholar 

  7. 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. 8

    Struewing, J.P. et al. Detection of eight BRCA1mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am. J. Hum. Genet. 57, 1–7 (1995).

    CAS  Article  Google Scholar 

  9. 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. 10

    Fitzgerald, M.G. et al. Germline BRCA1mutations in Jewish and non-Jewish women with early-onset breast cancer. N. Engl. J. Med. 334, 143–149 (1996).

    CAS  Article  Google Scholar 

  11. 11

    Berman, D. et al. Two distinct origins of a common BRCA1mutation 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. 12

    Neuhausen, S. et al. Recurrent BRCA26174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nature Genet. 13, 126–128 (1996).

    CAS  Article  Google Scholar 

  13. 13

    Oddoux, C. et al. The carrier frequency of the BRCA26174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nature Genet. 14, 188–190 (1996).

    CAS  Article  Google Scholar 

  14. 14

    Roa, B.B., Boyd, A.A., Volcik, K. & Richards, C.S., Jewish population frequencies for common mutations in BRCA1and BRCA2 . Nature Genet. 14, 185–187 (1996).

    CAS  Article  Google Scholar 

  15. 15

    Struewing, J.P. et al. The carrier frequency of the BRCA1185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature Genet. 11, 189–200 (1995).

    Article  Google Scholar 

  16. 16

    Easton, D.F., Ford, D., Bishop, D.T. and the Breast Cancer Linkage Consortium. Breast and ovarian cancer incidence in BRCA1mutation carriers. Am. J. Hum. Genet. 56, 256–271 (1995).

    Google Scholar 

  17. 17

    Egan, K.M. et al. Jewish religion and risk of breast cancer. Lancet 347, 1645–1646 (1996).

    CAS  Article  Google Scholar 

  18. 18

    Offit, K. et al. Germline BRCA1185delAG mutations in Jewish women affected by breast cancer. Lancet 347, 1643–1645 (1996).

    CAS  Article  Google Scholar 

  19. 19

    Wooster, R. et al. Identification of the breast cancer susceptibility gene BRCA2 . Nature 376, 789–792 (1995).

    Article  Google Scholar 

  20. 20

    Couch, F.J. et al. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nature Genet. 13, 123–125 (1996).

    CAS  Article  Google Scholar 

  21. 21

    Gayther, S.A. et al. Germline mutations of the BRCA1gene in breast/ovarian cancer families provide evidence for a genotype/phenotype correlation. Nature Genet. 11, 428–433 (1995).

    CAS  Article  Google Scholar 

  22. 22

    Phelan, C.M. et al. Ovarian cancer risk in BRCA1carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nature Genet. 12, 309–311 (1996).

    CAS  Article  Google Scholar 

  23. 23

    Holt, J.T. et al. Growth retardation and tumour inhibition by BRCA1 . Nature Genet. 12, 298–302 (1996).

    CAS  Article  Google Scholar 

  24. 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. 25

    Thorlacius, S. et al. A single BRCA2mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nature Genet. 13, 117–119 (1996).

    CAS  Article  Google Scholar 

Download references

Author information

Affiliations

Authors

Rights and permissions

Reprints 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

Further reading

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing