Loss of heterozygosity (LOH) in familial tumors of BRCA1 kindreds
- Univ. of Utah, Salt Lake City, UT (United States); and others
In this study, we examined two families previously linked to BRCA1. Identification of recombinants in kindreds K2082 and K2035 had narrowed the region to between D17S776 and D17S1184, respectively. Further delineation of the region may be accomplished by examining loss of heterozygosity (LOH) in familial tumors. Five ovarian and six breast tumors from kindred K2082 (including two from sporadic breast cases) and three breast tumors from kindred K2035 were tested for LOH using six BRCA1-linked polymorphic STR markers and one marker at TP53. The two tumors from K2082 which did not share the linked haplotype did not show LOH in the BRCA1 region, nor did one of the tumors from a 17q-linked breast cancer case. Four ovarian and three breast tumors showed complete loss for the BRCA1 region. One ovarian and three breast tumors showed LOH only within the BRCA1 region. In all instances where LOH in the BRCA1 region was observed, the wild type allele was lost. These results therefore confirm the observation of Smith et al. (1992), and provide additional evidence that BRCA1 is a tumor suppressor gene. One of the breast tumors which showed loss within the BRCA1 region allowed us to narrow the region further.
- OSTI ID:
- 133547
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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