Screening for BRCA2 mutations in 81 Dutch breast–ovarian cancer families

  title={Screening for BRCA2 mutations in 81 Dutch breast–ovarian cancer families},
  author={T. A. Peelen and Margreethe van Vliet and Annet Maria Bosch and Graham R. Bignell and Hans F. A. Vasen and Jan G. M. Klijn and Hanne Meijers-Heijboer and Michael R. Stratton and G. J. B. van Ommen and Cees J. Cornelisse and Peter Devilee},
  journal={British Journal of Cancer},
  pages={151 - 156}
We have analysed 81 families with a history of breast and/or ovarian cancer for the presence of germline mutations in BRCA2 with a number of different mutation screening techniques. The protein truncation test (PTT) for exons 10 and 11 detected four different frame-shifting mutations in six of these families. Four of the remaining 75 families had given positive linkage evidence for being due to BRCA2. In these families the entire coding region was analysed by single-strand conformational… CONTINUE READING
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