Abstract
The discovery of theBRCA1 gene involved in the development of human hereditary breast cancer led to extensive international efforts to identify the mutations leading to the disease. The new listing covers 127 mutations published in the indicated papers before 30 April 1996; 55% of the mutations are localized in exon 11, followed by exons 2 (5.5%), 5 and 16 (4.7% each).
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References
Castilla LH, et al (1994) Mutations in theBRCA1 gene in families with early-onset breast and ovarian cancer. Nature Genet 8:387–391
Fitzgerald MG, et al (1996) Germ-lineBRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med 334:143–149
Friedman LS, et al (1994) Confirmation ofBRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nature Genet 8:399–404
Friend S, et al (1995) Breast cancer information on the web. Nature Genet 11:238–239
Futreal PA, et al (1994)BRCA1 mutations in primary breast and ovarian carcinomas. Science 266:120–122
Gayther SA, et al (1995) Germline mutations of theBRCA1 gene in breast and ovarian cancer families provide evidence for a genotypephenotype correlation. Nature Genet 11:428–433
Gayther SA, et al (1996) Rapid detection of regionally clustered germlineBRCA1 mutations by multiplex heteroduplex analysis. Am J Hum Genet 58:451–456
Hogervorst FBL, et al (1995) Rapid detection ofBRCA1 mutations by the protein truncation test. Nature Genet 10:208–212
Hosking L, et al (1995) A somaticBRCA1 mutation in an ovarian tumour. Nature Genet 9:343–344
Inoue R, et al (1995) Germline mutation ofBRCA1 in Japanese Breast Cancer Families. Cancer Res 55:3521–3524
Jandrig B, Couch FJ, Erdos MR, Hoskins KF, Calzone K, Garber JE, Boyd J, Lubin MB, Deshano ML, Brody LC, Collins FS, Weber BL (1996) BRCA1 mutations in German breast cancer families. Int J Cancer (in press)
Johannsson O, et al (1996) FoundingBRCA1 mutations in hereditary breast and ovarian cancer in Southern Sweden. Am J Hum Genet 58:441–450
Langston AA, et al (1996)BRCA1 mutations in a population-based sample of young women with breast cancer. N Engl J Med 334: 137–142
Merajver SD, et al (1995) Somatic mutations in theBRCA1 gene in sporadic ovarian tumours. Nature Genet 9:439–443
Miki Y, et al (1994) A strong candidate for the breast and ovarian cancer susceptibility geneBRCA1. Science 266:66–71
Serova O, et al (1996) A high incidence ofBRCA1 mutations in 20 breast-ovarian cancer families. Am J Hum Genet 58:42–51
Shattuck-Eidens D, et al (1995) A collaborative survey of 80 mutations on theBRCA1 breast and ovarian cancer susceptibility gene. J Am Med Assoc 273:535–541
Simard J et al. (1994) Common origins ofBRCA1 mutations in Canadian breast and ovarian cancer families. Nature Genet 8: 392–398
Struewing JP, et al (1995a) The carrier frequency of theBRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature Genet 11:198–200
Struewing JP, et al (1995b) Detection of eightBRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am J Hum Genet 57:1–7
Szabo CJ, King MC (1995) Inherited breast and ovarian cancer. Hum Mol Genet 4:1811–1817
Takahashi H, et al (1995) Mutation analysis of theBRCA1 gene in ovarian cancers. Cancer Res 55:2998–3002
Waindzoch B, et al (1996) A novel mutation in theBRCA1 gene in a German early-onset breast cancer family. Hum Mutat (in press)
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Grade, K., Jandrig, B. & Scherneck, S. BRCA1 mutation update and analysis. J Cancer Res Clin Oncol 122, 702–706 (1996). https://doi.org/10.1007/BF01209036
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DOI: https://doi.org/10.1007/BF01209036