In 1995, The BRCA2 gene was mapped to chromosomal 13q. Just fifteen months later, Wooster et al.5 reported a partial BRCA2 sequence and six mutations predicted to cause truncation of the BRCA2 protein.

Breast carcinoma is the most common malignancy among women in developed countries. Because family history remains the strongest single predictor of breast cancer risk, attention has focused on the role of highly penetrant, dominantly inherited genes in cancer-prone kindreds.

While these findings provide strong evidence that the identified gene corresponds to BRCA2, only two thirds of the coding sequence and 8 out of 27 exons were isolated and screened; consequently, several questions remained unanswered regarding the nature of BRCA2 and the frequency of mutations in 13q-linked families.