Germline truncating mutations in both MSH2 and BRCA2 in a single kindred

@article{Thiffault2004GermlineTM,
  title={Germline truncating mutations in both MSH2 and BRCA2 in a single kindred},
  author={Isabelle Thiffault and Nancy Hamel and Tuya Pal and Susan McVety and Victoria A. Marcus and David Farber and Shannon Cowie and Julie Desch{\^e}nes and Wendy S. Meschino and Fabrice Odefrey and David E. Goldgar and Trevor L. Graham and Steven A Narod and Aaron Watters and Elizabeth M MacNamara and Desir{\'e}e du Sart and George C. Chong and William D Foulkes},
  journal={British Journal of Cancer},
  year={2004},
  volume={90},
  pages={483 - 491}
}
There has been interest in the literature in the possible existence of a gene that predisposes to both breast cancer (BC) and colorectal cancer (CRC). We describe the detailed characterisation of one kindred, MON1080, with 10 cases of BC or CRC invasive cancer among 26 first-, second- or third-degree relatives. Linkage analysis suggested that a mutation was… CONTINUE READING