MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors

T Venesio, A Balsamo, VG D'Agostino… - Frontiers in …, 2012 - frontiersin.org
In 2002, Al-Tassan and co-workers described for the first time a recessive form of inherited
polyposis associated with germline mutations of MUTYH, a gene encoding a base excision …

MUTYH-associated tumor syndrome: The other face of MAP

L Magrin, D Fanale, C Brando, LR Corsini, U Randazzo… - Oncogene, 2022 - nature.com
MUTYH gene is involved in the base excision repair (BER) mechanism and its pathogenic
alterations are associated with colorectal polyposis and cancer. MUTYH-associated …

MUTYH-associated polyposis—from defect in base excision repair to clinical genetic testing

JP Cheadle, JR Sampson - DNA repair, 2007 - Elsevier
Established predisposition genes account for only a small proportion of familial colorectal
cancer. Recently, it has been shown that germline mutations in MUTYH predispose to …

MUTYH-associated colorectal cancer and adenomatous polyposis

S Yamaguchi, H Ogata, D Katsumata, M Nakajima… - Surgery today, 2014 - Springer
MUTYH-associated polyposis (MAP) was first described in 2002. MUTYH is a component of
a base excision repair system that protects the genomic information from oxidative damage …

MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell‐based assay

S Molatore, MT Russo, VG D'Agostino… - Human …, 2010 - Wiley Online Library
MUTYH‐associated polyposis (MAP) is a colorectal cancer syndrome, due to biallelic
mutations of MUTYH. This Base Excision Repair gene encodes for a DNA glycosylase that …

[HTML][HTML] MUTYH: Not just polyposis

MC Curia, T Catalano, GM Aceto - World Journal of Clinical …, 2020 - ncbi.nlm.nih.gov
MUTYH is a base excision repair enzyme, it plays a crucial role in the correction of DNA
errors from guanine oxidation and may be considered a cell protective factor. In humans it is …

Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in …

AG Raetz, Y Xie, S Kundu, MK Brinkmeyer… - …, 2012 - academic.oup.com
Biallelic germline mutations in the base excision repair enzyme gene MUTYH lead to
multiple colorectal adenomas and carcinomas referred to as MUTYH-associated polyposis …

Analysis of MUTYH genotypes and colorectal phenotypes in patients with MUTYH-associated polyposis

M Nielsen, MC Joerink-Van de Beld, N Jones, S Vogt… - Gastroenterology, 2009 - Elsevier
BACKGROUND & AIMS: Biallelic mutations in the base excision DNA repair gene MUTYH
lead to MUTYH-associated polyposis (MAP) and predisposition to colorectal cancer (CRC) …

An in-frame exon-skipping MUTYH mutation is associated with early-onset colorectal cancer

F Fostira, C Papademitriou, A Efremidis… - Diseases of the colon …, 2010 - journals.lww.com
PURPOSE: MUTYH-associated polyposis syndrome is inherited as a recessive trait and is
characterized by the presence of colorectal adenomas and cancer predisposition. Carriers …

Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals

K Fabišíková, O Hamidová, RL Behulová… - Frontiers in …, 2020 - frontiersin.org
MUTYH-associated polyposis (MAP) is a rare hereditary condition caused by the biallelic
mutation in the MUTYH gene encoding MUTYH glycosylase. This enzyme is a key member …