BRCA1 mutations in primary breast and ovarian carcinomas
- National Institute of Environmental Health Sciences, Research Triangle Park, NC (United States)
- Myriad Genetics, Salt Lake City, UT (United States); and others
Loss of heterozygosity data from familial tumors suggested 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.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 68720
- Journal Information:
- Science, Journal Name: Science Journal Issue: 5182 Vol. 266; ISSN SCIEAS; ISSN 0036-8075
- Country of Publication:
- United States
- Language:
- English
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