Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer.

@article{Fleischmann2004ComprehensiveAO,
  title={Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer.},
  author={Christina Fleischmann and Julian Peto and Jeremy P. Cheadle and Bindiya Shah and Julian R. Sampson and Richard S. Houlston},
  journal={International journal of cancer},
  year={2004},
  volume={109 4},
  pages={554-8}
}
Mutations in the base excision repair gene MYH have recently been shown to confer recessive susceptibility to colorectal adenomas and carcinomas. To evaluate the contribution of germline MYH mutations to early-onset colorectal cancer, we screened a series of 358 unselected early-onset cases for germline changes in the coding sequence of the gene. Two cases harbored biallelic germline mutations (0.6%; 95% CI = 0.06-2.0) and 8 single MYH mutations (2.2%; 95% CI = 0.9-4.4). Both cases harboring… CONTINUE READING