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BRCA2 mutations in primary breast and ovarian cancers
J M Lancaster1, R Wooster, J Mangion
1Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina, USA.
Nature Genetics
|June 1, 1996
Summary
BRCA2 mutations are rarely found in sporadic breast and ovarian cancers. This study found only one somatic mutation in 70 breast tumors, suggesting BRCA2 is not a frequent target in these cancers.
Area of Science:
- Oncology
- Genetics
- Cancer Research
Background:
- BRCA2 is a known hereditary breast cancer gene.
- Loss of heterozygosity (LOH) at BRCA2 in sporadic tumors suggests a tumor suppressor role.
- Previous studies indicated BRCA2's potential involvement in sporadic breast and ovarian cancers.
Purpose of the Study:
- To investigate the role of BRCA2 in sporadic breast and ovarian cancer.
- To screen the entire BRCA2 gene for mutations in primary tumors.
Main Methods:
- Screening of the BRCA2 gene for mutations using various techniques.
- Analysis of 70 primary breast carcinomas and 55 primary epithelial ovarian carcinomas.
- Identification and characterization of gene alterations.
Main Results:
- Only 2 out of 70 breast tumors (2.8%) showed BRCA2 alterations.
- No BRCA2 alterations were detected in 55 ovarian carcinomas.
- One identified breast cancer alteration was a germline mutation (4710delAG); the other was a somatic missense mutation (Asp3095Glu).
Conclusions:
- BRCA2 is infrequently targeted for somatic inactivation in sporadic breast and ovarian carcinomas.
- The findings are similar to those observed for BRCA1.
- BRCA2's role in sporadic breast and ovarian cancer appears limited.