Article
Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies.
Clinical genetics - 1 May 2018
Yanus G A, Akhapkina T A, Ivantsov A O, Preobrazhenskaya E V, Aleksakhina S N, Bizin I V, Sokolenko A P, Mitiushkina N V, Kuligina E Sh, Suspitsin E N, Venina A R, Holmatov M M, Zaitseva O A, Yatsuk O S, Pashkov D V, Belyaev A M, Togo A V, Imyanitov E N, Iyevleva A G
Abstract excerpt
Distribution of cancer-predisposing mutations demonstrates significant interethnic variations. This study aimed to evaluate patterns of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. APC gene defects were identified in 26/38 (68%) subjects with colon polyposis; 8/26 (31%) APC mutations were associated with 2 known mutational hotspots (p.E1309Dfs*4 [n = 5] and p.Q1062fs* [n =...
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