Prevalence of MUTYH Monoallelic Variants in Patients With Hereditary Cancer Using Multigene Panel Testing [PDF]
Cancer MedicineBackground The MUTYH gene is involved in DNA repair and is known for MAP (MUTYH‐associated polyposis), an autosomal recessive disorder that predisposes individuals to colorectal cancer (CRC), with a lifetime risk ranging from 40% to 90%.
Gemma Caliendo +9 more
doaj +2 more sources
Distinct Germline Mutation Landscape and Clinical Implications in Chinese Colorectal Cancer: A Large-Scale Genomic Analysis of 1094 Patients. [PDF]
Cancer MedABSTRACT Objective To investigate the prevalence, characteristics, and clinical implications of germline mutations in a consecutive cohort of Chinese colorectal cancer (CRC) patients, providing insights that may inform population‐specific genetic testing strategies.
Lu L +8 more
europepmc +2 more sources
Mono-allelic MUTYH mutation as the likely inherited etiology of hereditary breast cancer in a patient from a multi-cancer family- report of a family and literature review [PDF]
BMC Medical GenomicsBackground Breast cancer (BC) is the most prevalent cancer globally. Carriers of pathogenic variants in high- or moderate-penetrance genes, have an increased risk of developing hereditary BC (HBC).
Akram Sarmadi +4 more
doaj +2 more sources
EBioMedicine, 2017 8-Oxoguanine, a common mutagenic DNA lesion, generates G:C>T:A transversions via mispairing with adenine during DNA replication. When operating normally, the MUTYH DNA glycosylase prevents 8-oxoguanine-related mutagenesis by excising the incorporated ...
Alessandro Giuliani +2 more
exaly +3 more sources
Pancreatic neuroendocrine tumors and pathogenic variants: a multinational study [PDF]
Therapeutic Advances in Medical OncologyBackground: Germline pathogenic variants (GPV) in MUTYH are rare in patients with pancreatic neuroendocrine tumors (PanNET). Objectives: We aimed to characterize PanNET patients with GPV and/or somatic pathogenic variants (SPV) in MUTYH .
Rachel P. Riechelmann +10 more
doaj +2 more sources
DNA glycosylases Ogg1 and Mutyh influence gene expression of PRC2 targets associated with cognition [PDF]
Cellular and Molecular Life SciencesBase excision repair, initiated by DNA glycosylases, preserves genomic integrity by removing damaged bases. DNA glycosylases Ogg1 and Mutyh were shown to alter the hippocampal transcriptome independently of DNA damage repair.
Andreas Abentung +7 more
doaj +2 more sources
Evolutionary Origin of MUTYH Germline Pathogenic Variations in Modern Humans
Biomolecules, 2023 MUTYH plays an essential role in preventing oxidation-caused DNA damage. Pathogenic germline variations in MUTYH damage its function, causing intestinal polyposis and colorectal cancer.
Fengxia Xiao +6 more
doaj +1 more source
MUTYH as an Emerging Predictive Biomarker in Ovarian Cancer
Diagnostics, 2021 Approximately 18% of ovarian cancers have an underlying genetic predisposition and many of the genetic alterations have become intervention and therapy targets.
Megan L. Hutchcraft +2 more
doaj +1 more source
MUTYH is associated with hepatocarcinogenesis in a non-alcoholic steatohepatitis mouse model
Scientific Reports, 2021 Non-alcoholic steatohepatitis (NASH)-related HCC is associated with oxidative stress. However, the mechanisms underlying the development of NASH-related HCC is unclear. MUTYH is one of the enzymes that is involved in repair of oxidative DNA damage.
Hiroki Sakamoto +13 more
doaj +1 more source
Nature Communications, 2022 Germline biallelic pathogenic MUTYH variants predispose patients to colorectal cancer (CRC); however, approaches to identify MUTYH variant carriers are lacking.
Peter Georgeson +51 more
doaj +1 more source