BRCA2 mutations in primary breast and ovarian cancers - PubMed (original) (raw)

R Wooster, J Mangion, C M Phelan, C Cochran, C Gumbs, S Seal, R Barfoot, N Collins, G Bignell, S Patel, R Hamoudi, C Larsson, R W Wiseman, A Berchuck, J D Iglehart, J R Marks, A Ashworth, M R Stratton, P A Futreal

Affiliations

BRCA2 mutations in primary breast and ovarian cancers

J M Lancaster et al. Nat Genet. 1996 Jun.

Abstract

The second hereditary breast cancer gene, BRCA2, was recently isolated. 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 that BRCA2 may act as a tumour suppressor gene in a proportion of sporadic cases. 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 for BRCA1.

PubMed Disclaimer

Publication types

MeSH terms

Substances

LinkOut - more resources