Molecular analysis of the BRCA2 gene in 16 breast/ovarian cancer Spanish families

Abstract

The recent isolated gene BRCA2 is responsible for about 45% of famil ial breast cancer and the majority of male breast cancer families. In order to evaluate the role of inherited BRCAZ mutations in Spanish families, the complete coding sequence of the gene was screened by SSCP/sequencing in 16 high-risk breastlovarian cancer families. Four mutations were found that cause a premature termination codon. Two of them have been reported elsewhere and one is a novel muta tion. In addition we have found seven polymorphisms, two of which have not been previously described. One of the mutations, 936deIAAAC was found in two of our high-risk families. Because this mutation is considered as recurrent, we have tried to estimate its fre quency in our breast cancer population. A total cf 127 moderate- high risk families were screened for this mutation and it was also found in another high-risk family. All the families carrying the 936delAAAC mutation harboured part of a common haplotype shared by other re ported carriers, suggesting a possible founder effect for this mutation.