BRCA1 mutations in primary breast and ovarian carcinomas.

Journal Article (Journal Article)

Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor. The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers, an indication that BRCA1 mutations may occur somatically in these tumors. The BRCA1 coding region was examined for mutations in primary breast and ovarian tumors that show allele loss at the BRCA1 locus. Mutations were detected in 3 of 32 breast and 1 of 12 ovarian carcinomas; all four mutations were germline alterations and occurred in early-onset cancers. These results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele.

Full Text

Duke Authors

Cited Authors

  • Futreal, PA; Liu, Q; Shattuck-Eidens, D; Cochran, C; Harshman, K; Tavtigian, S; Bennett, LM; Haugen-Strano, A; Swensen, J; Miki, Y

Published Date

  • October 7, 1994

Published In

Volume / Issue

  • 266 / 5182

Start / End Page

  • 120 - 122

PubMed ID

  • 7939630

International Standard Serial Number (ISSN)

  • 0036-8075

Digital Object Identifier (DOI)

  • 10.1126/science.7939630


  • eng

Conference Location

  • United States