Abstract
The second hereditary breast cancer gene, BRCA2, was recently isolated1. Germline mutations of this gene predispose carriers to breast cancer, and, to a lesser extent, ovarian cancer. Loss of heterozygosity (LOH) at the BRCA2 locus has been observed in 30–40% of sporadic breast and ovarian tumours, implying thatBRCA2 may act as a tumour suppressor gene in a proportion of sporadic cases 2–5. To define the role of BRCA2 in sporadic breast and ovarian cancer, we screened the entire gene for mutations using a combination of techniques in 70 primary breast carcinomas and in 55 primary epithelial ovarian carcinomas. Our analysis revealed alterations in 2/70 breast tumours and none of the ovarian carcinomas. One alteration found in the breast cancers was a 2-basepair (bp) deletion (4710delAG) which was subsequently shown to be a germline mutation, the other was a somatic missense mutation (Asp3095Glu) of unknown significance. Our results suggest that BRCA2 is a very infrequent target for somatic inactivation in breast and ovarian carcinomas, similar to the results obtained torBRCAL
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Lancaster, J., Wooster, R., Mangion, J. et al. BRCA2 mutations in primary breast and ovarian cancers. Nat Genet 13, 238–240 (1996). https://doi.org/10.1038/ng0696-238
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DOI: https://doi.org/10.1038/ng0696-238
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