Mutation analysis of the BRCA2 gene in 49 site–specific breast cancer families

  • An Erratum to this article was published on 01 July 1996


The hereditary breast cancer gene BRCA2 was recently cloned1 and is believed to account for almost half of site-specific breast cancer families and the majority of male breast cancer families2. We screened 49 site-specific breast cancer families for mutations in the BRCA2 gene using single strand conformation analysis (SSCA) followed by direct sequencing. We found mutations in eight families, including all four families with male breast cancer. The eight mutations were small deletions with the exception of a single nonsense mutation, and all were predicted to interrupt the BRCA2 coding sequence and to lead to a truncated protein product. Other factors which predicted the presence of a BRCA2 mutation included a case of breast cancer diagnosed at age 35 or below (P = 0.01) and a family history of pancreatic cancer (P = 0.03). Two mutations were seen twice, including a 8535delAG, which was detected in two French Canadian families. Our results suggest the possibilty that the proportion of site-specific breast cancer families attributable to BRCA2 may be overestimated.

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Correspondence to P. Andrew Futreal.

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