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

@article{Phelan1996MutationAO,
  title={Mutation analysis of the BRCA2 gene in 49 site–specific breast cancer families},
  author={Catherine M. Phelan and Johnathan Mark Lancaster and Patricia N. Tonin and Curtis E. Gumbs and Charles Cochran and Ron Carter and Parviz Ghadirian and Chantal Perret and Roxana Moslehi and France Dion and Manon H. Faucher and Kiran Dole and Sepideh Karimi and Willliam Foulkes and Hafida Lounis and Ellen Warner and Patrick Goss and D. Nelson Anderson and Catharina Larsson and Steven A Narod and Philip Andrew Futreal},
  journal={Nature Genetics},
  year={1996},
  volume={13},
  pages={120-122}
}
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… CONTINUE READING
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