Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer.

Kazuya ShinmuraMasanori GotoHong TaoHisami KatoRie SuzukiSatoki NakamuraTomonari MatsudaGuang YinMakiko MoritaSuminori KonoHaruhiko Sugimura

Published in: Oxidative medicine and cellular longevity (2014)

These results suggest that biallelic MUTYH or OGG1 pathogenic mutations are rare in Japanese patients with early-onset CRC; however, the p.Arg19∗ and p.Arg109Trp MUTYH variants are associated with functional impairments.

Keyphrases

early onset
late onset
case report
copy number
dna repair
intellectual disability
dna methylation