MutYH (MYH) and colorectal cancer
- 1 August 2005
- journal article
- review article
- Published by Portland Press Ltd. in Biochemical Society Transactions
- Vol. 33 (4), 679-683
- https://doi.org/10.1042/bst0330679
Abstract
MAP (MutYH-associated polyposis) is a recently described colorectal adenoma and carcinoma predisposition syndrome that is associated with biallelic-inherited mutations of the human MutY homologue gene, MutYH. MutYH is often also termed MYH. MAP tumours display a mutational signature of somatic guanine-to-thymine transversion mutations in the adenomatous polyposis coli and K-ras genes, reflecting the normal role of MutYH in the base excision repair of adenines misincorporated opposite 7,8-dihydro-8-oxoguanine, a prevalent and stable product of oxidative damage to DNA. However, the full genetic pathway of MAP tumorigenesis has not been elucidated.Keywords
This publication has 22 references indexed in Scilit:
- Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomasHuman Mutation, 2004
- High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis.Gastroenterology, 2004
- Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomasInternational Journal of Cancer, 2004
- Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYHThe Lancet, 2003
- Insight into the Functional Consequences of Inherited Variants of the hMYH Adenine Glycosylase Associated with Colorectal Cancer: Complementation Assays with hMYH Variants and Pre-steady-state Kinetics of the Corresponding Mutated E.coli EnzymesJournal of Molecular Biology, 2003
- Multiple Colorectal Adenomas, Classic Adenomatous Polyposis, and Germ-Line Mutations inMYHNew England Journal of Medicine, 2003
- Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C->T:A mutationsHuman Molecular Genetics, 2002
- Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumorsNature Genetics, 2002
- The ABC of APCHuman Molecular Genetics, 2001
- Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damageJournal of Bacteriology, 1996