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BRCA1 mutations in primary breast and ovarian carcinomas
P A Futreal1, Q Liu, D Shattuck-Eidens
1Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709.
Science (New York, N.Y.)
|October 7, 1994
Summary
BRCA1 gene mutations are linked to hereditary breast and ovarian cancers. This study found that most sporadic breast and ovarian tumors do not have critical BRCA1 mutations, suggesting they are not the primary cause in these cases.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Familial tumor data suggest BRCA1, a gene associated with ovarian and early-onset breast cancer susceptibility, functions as a tumor suppressor.
- Allelic loss in the BRCA1 region of sporadic breast and ovarian cancers indicates potential somatic mutations.
Purpose of the Study:
- To investigate BRCA1 gene mutations in primary breast and ovarian tumors exhibiting allele loss at the BRCA1 locus.
- To determine the role of BRCA1 mutations in the development of sporadic versus familial cancers.
Main Methods:
- Analysis of the BRCA1 coding region for mutations.
- Examination of primary breast and ovarian tumor samples with known allele loss at the BRCA1 locus.
Main Results:
- Mutations were identified in 3 of 32 breast and 1 of 12 ovarian carcinomas.
- All detected mutations were germline alterations, specifically found in early-onset cancer cases.
- The majority of sporadic tumors analyzed did not harbor critical BRCA1 mutations.
Conclusions:
- BRCA1 mutations are significant in hereditary early-onset breast and ovarian cancers.
- BRCA1 mutations are unlikely to be a critical factor in the development of most sporadic breast and ovarian cancers lacking a mutant germline allele.