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volume 13 number 1 page 120 Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families Catherine M. Phelan1,2,3, Johnathan M. Lancaster4, Patricia Tonin1, Curtis Gumbs3, Charles Cochran4, Ron Carter5, Parviz Ghadirian6, Chantal Perret6, Roxana Moslehi7, France Dion1, Marie-Claude Faucher1, Kiran Dole1, Sepideh Karimi1, Willliam Foulkes1 , Hafida Lounis8, Ellen Warner9, Paul Goss10, David Anderson11, Catharina Larsson2, Steven A. Narod12 & P. Andrew Futreal3 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.
1Departments of Human Genetics and Medicine, McGill University and Montreal General Hospital Research Institute, Montreal, Quebec, Canada |
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