The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.

摘要: Breast carcinoma is the most common malignancy among women in developed countries. Because family history remains strongest single predictor of breast cancer risk, attention has focused on role highly penetrant, dominantly inherited genes cancer-prone kindreds. BRCA1 was localized to chromosome 17 through analysis a set high-risk kindreds, and then identified four years later by positional cloning strategy. BRCA2 mapped chromosomal 13q at about same time. Just fifteen months later, Wooster et al. reported partial sequence six mutations predicted cause truncation protein. While these findings provide strong evidence that gene corresponds BRCA2, only two thirds coding 8 out 27 exons were isolated screened; consequently, several questions remained unanswered regarding nature frequency 13q-linked families. We have now determined complete exonic structure (GenBank accession #U43746), examined its pattern expression. Here, we sequences for PCR primers sufficient screen entire using genomic DMA. also report mutational families selected basis linkage and/or presence one or more cases male cancer. Together with specific described previously, our data preliminary insight into mutation profile.