Significant contribution of germline BRCA2 rearrangements in male breast cancer families.

  title={Significant contribution of germline BRCA2 rearrangements in male breast cancer families.},
  author={Isabelle Tournier and Brigitte Bressac-de Paillerets and Hagay Sobol and Dominique Stoppa-Lyonnet and Rosette Lidereau and Michel Barrois and Sylvie Mazoyer and Florence Coulet and Agn{\`e}s Hardouin and Agn{\'e}s Chompret and Alain Lortholary and Pierre Chappuis and Violaine Bourdon and Val{\'e}rie Bonadona and Christine M. Maugard and Brigitte Gilbert and Catherine Nogu{\'e}s and Thierry 11 Fr{\'e}bourg and Mario Tosi},
  journal={Cancer research},
  volume={64 22},
Although screening for large deletions or duplications of the BRCA1 gene is becoming a routine component of the molecular diagnosis of familial breast cancer, little is known about the occurrence of such rearrangements in the BRCA2 gene. Because of the high frequency of BRCA2 mutations in breast cancer families with at least one case of male breast cancer, we selected a cohort of 39 such families, tested negative for mutations in the coding regions of BRCA1 and BRCA2, and developed an assay for… CONTINUE READING

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