Identification and Genetic Mapping of Genes for Hereditary Breast and Ovarian Cancer in Families Unlinked to BRCA1.

Since the last annual report, the BRCA2 gene was cloned by our collaborator on this grant. We identified the complete BRCA2 sequence which encodes a protein of 3,418 amino acids. Due to the successful completion of several of the aims, we added additional goals. We have identified predisposing mutations in six of our families and a polymorphism in a seventh. We are continuing to screen for mutations in our additional families using SSCP. Now that the gene has been isolated and mutations are being identified rapidly, we are constructing a database of haplotypes of mutations. In a collaborative project, we will examine common mutations to investigate mutation origin.