MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.

@article{Aretz2006MUTYHassociatedP7,
  title={MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.},
  author={Stefan Aretz and Siegfried Uhlhaas and Heike Goergens and Kirsten Siberg and Matthias Vogel and Constanze Pagenstecher and Elisabeth Mangold and Reiner Caspari and P. Propping and Waltraut Friedl},
  journal={International journal of cancer},
  year={2006},
  volume={119 4},
  pages={807-14}
}
To determine the frequency, mutation spectrum and phenotype of the recently described autosomal recessive MUTYH-associated polyposis (MAP), we performed a systematic search for MUTYH (MYH) mutations by sequencing the complete coding region of the gene in 329 unselected APC mutation-negative index patients with the clinical diagnosis of familial adenomatous polyposis (FAP) or attenuated FAP (AFAP). Biallelic germline mutations in MUTYH were identified in 55 of the 329 unselected patients (17… CONTINUE READING