Two founding mutations in BRCA1 and BRCA2 are responsible for a large proportion of Jewish families with the breast-ovarian cancer syndrome.
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Ford, D. et al. Risks of cancer in BRCA1mutation carriers. Lancet 343, 692–695 (1994).
Tonin, P. et al. A large multisite cancer family is linked to BRCA2 . J. Med. Genet. 32, 982–984 (1995).
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).
Phelan, C. et al. Mutation analysis of the BRCA2gene in 49 site-specific breast cancer families. Nature Genet. 13, 120–122 (1996).
Miki, Y. et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 . Science 266, 66–71 (1994).
Tavtigian, S.V. et al. The complete BRCA2gene and mutations in chromosome 13q-linked kindreds. Nature Genet. 12, 333–337 (1996).
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).
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).
Tonin, P. et al. BRCA1 mutations in Ashkenazi Jewish women. Am. J. Hum. Genet. 57, 189 (1995).
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).
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).
Neuhausen, S. et al. Recurrent BRCA26174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nature Genet. 13, 126–128 (1996).
Oddoux, C. et al. The carrier frequency of the BRCA26174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nature Genet. 14, 188–190 (1996).
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).
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).
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).
Egan, K.M. et al. Jewish religion and risk of breast cancer. Lancet 347, 1645–1646 (1996).
Offit, K. et al. Germline BRCA1185delAG mutations in Jewish women affected by breast cancer. Lancet 347, 1643–1645 (1996).
Wooster, R. et al. Identification of the breast cancer susceptibility gene BRCA2 . Nature 376, 789–792 (1995).
Couch, F.J. et al. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nature Genet. 13, 123–125 (1996).
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).
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).
Holt, J.T. et al. Growth retardation and tumour inhibition by BRCA1 . Nature Genet. 12, 298–302 (1996).
Narod, S. et al. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Am. J. Hum. Genet. 56, 254–264 (1995).
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).
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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
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