Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.

@article{Russell2006PrevalenceOM,
  title={Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.},
  author={Anna Marie Russell and Jian Zhang and Judith Luz and Pierre Hutter and Pierre O Chappuis and Claudine Rey Berthod and Philippe Maillet and Hansjakob Mueller and Karl Heinimann},
  journal={International journal of cancer},
  year={2006},
  volume={118 8},
  pages={1937-40}
}
In 10-30% of patients with classical familial adenomatous polyposis (FAP) and up to 90% of those with attenuated (<100 colorectal adenomas; AFAP) polyposis, no pathogenic germline mutation in the adenomatous polyposis coli (APC) gene can be identified (APC mutation-negative). Recently, biallelic mutations in the base excision repair gene MYH have been shown to predispose to a multiple adenoma and carcinoma phenotype. This study aimed to (i) assess the MYH mutation carrier frequency among Swiss… CONTINUE READING