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    GENE:

    MUTYH (MutY homolog)

    i
    Other names: MUTYH, MYH, MutY homolog
    5d
    Hereditary Cancer Genetic Testing for All? A Retrospective Analysis on Genetic Mutations Found in Individuals Not Meeting NCCN® Guidelines. (PubMed, Eur J Breast Health)
    These findings support the potential value of expanded or universal genetic testing strategies, particularly in populations with limited family history or those outside current clinical criteria.
    Retrospective data • Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • BAP1 (BRCA1 Associated Protein 1) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • PMS2 (PMS1 protein homolog 2) • APC (APC Regulator Of WNT Signaling Pathway) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • MBD4 (Methyl-CpG Binding Domain 4, DNA Glycosylase) • MSH3 (MutS Homolog 3) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • MUTYH (MutY homolog) • FLCN (Folliculin) • POT1 (Protection of telomeres 1) • MITF (Melanocyte Inducing Transcription Factor) • SDHD (Succinate Dehydrogenase Complex Subunit D) • HOXB13 (Homeobox B13) • LZTR1 (Leucine Zipper Like Transcription Regulator 1) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)
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    ATM mutation • CHEK2 mutation • BRIP1 mutation • BARD1 mutation
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    CancerNext-Expanded®
    16d
    Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish population. (PubMed, Fam Cancer)
    While phenotypes often align with the most penetrant allele, spesific instances may hint at the potential for synergistic effects in certain individuals. Management should transition toward personalized, multi-variant surveillance strategies incorporating both SNV and CNV data.
    Journal • BRCA Biomarker
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    BRCA2 (Breast cancer 2, early onset) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • MUTYH (MutY homolog)
    19d
    Pathogenic germline variants identified in pNEN patients during genetic testing. (PubMed, Endocr Oncol)
    Our findings suggest that germline testing may play a role in the standard-of-care management of pNEN. MUTYH alterations merit further evaluation as a potential risk factor for pNEN.
    Journal
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    MUTYH (MutY homolog)
    20d
    Germline Cancer Testing in Unselected Patients With Neuroendocrine Neoplasms: A Multi-center Prospective Study. (PubMed, Pancreas)
    Universal germline testing in unselected NEN patients identified clinically relevant PGVs in over 15% of cases. These findings support broader genetic testing approaches to guide treatment, enhance familial risk assessment, and inform cascade testing-regardless of traditional clinical selection criteria.
    Clinical • Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog) • MITF (Melanocyte Inducing Transcription Factor)
    21d
    Germline Predisposition in Pediatric Central Nervous System Tumors: Insights from a Multigene Panel Study. (PubMed, Oncol Res)
    Germline P/LP mutations were identified in 15.7% of Korean children and AYAs with CNS tumors, most commonly in gliomas and other CNS tumors. Our findings highlight the molecular heterogeneity of germline predisposition in CNS tumors and emphasize the importance of germline testing for risk assessment and surveillance.
    Journal
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    TP53 (Tumor protein P53) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • MUTYH (MutY homolog) • FANCI (FA Complementation Group I) • FANCM (FA Complementation Group M)
    27d
    Health actions after direct-to-consumer genetic testing for medically actionable conditions. (PubMed, Genet Med Open)
    Most individuals receiving medically actionable results through DTC-GT had no prior knowledge of their genetic health risks, despite many reporting a relevant personal and/or family history. When individuals shared results with HCPs and received medical recommendations, adherence was high.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MUTYH (MutY homolog) • APOB (Apolipoprotein B)
    27d
    Distinct Germline Mutation Landscape and Clinical Implications in Chinese Colorectal Cancer: A Large-Scale Genomic Analysis of 1094 Patients. (PubMed, Cancer Med)
    This study reveals distinct germline mutation patterns and clinical features in Chinese CRC patients, underscoring the need for population-specific genetic testing and tailored screening to improve prevention, early detection, and personalized treatment in Asian populations.
    Retrospective data • Journal
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    HRD (Homologous Recombination Deficiency) • APC (APC Regulator Of WNT Signaling Pathway) • MUTYH (MutY homolog)
    29d
    Therapeutic potential of Amentoflavone against myostatin for skeletal muscle atrophy treatment: An in silico, in vitro, and in vivo study. (PubMed, Phytomedicine)
    AMF interacts with MSTN, inhibiting its downstream signaling, promoting myogenic differentiation, and alleviating muscle atrophy, highlighting its potential as a natural therapeutic for muscle-wasting conditions. Through computational modeling, MD simulations, and experimental validation, AMF demonstrates strong binding to MSTN, with confirmed efficacy in both in vitro and in vivo studies.
    Preclinical • Journal
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    MUTYH (MutY homolog) • FBXO32 (F-Box Protein 32)
    1m
    Frequent Detection of KRAS-G12C and PIK3CA-Q546K Mutations in MAP Tumors Highlights their Role in MUTYH Variants of Uncertain Significance Reclassification. (PubMed, Hum Mutat)
    Among the three-suspected MAP cases with VUS, two harbored somatic KRAS-G12C and/or PIK3CA-Q546K, providing sufficient evidence to reclassify MUTYH VUS p.Pro301Arg and p.Trp113Arg as likely pathogenic based on ACMG/AMP criteria. These findings support the use of KRAS-G12C and PIK3CA-Q546K as cost-effective, accessible tumor biomarkers for aiding in MAP diagnosis and MUTYH VUS reclassification, particularly in settings with limited access to whole-exome/genome mutational signature analysis.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MUTYH (MutY homolog)
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    KRAS mutation • KRAS G12C • PIK3CA mutation • KRAS G12
    1m
    Rectifying referrals: genetics testing is underutilized in rectal cancer patient care. (PubMed, Proc (Bayl Univ Med Cent))
    This study demonstrates poor facility-level adherence with MSI/MMR testing recommendations and poor patient-level compliance with genetic referrals in rectal cancer. When recommendations were met, patients with germline mutations benefited from adjustments to their disease management.
    Retrospective data • Journal • BRCA Biomarker
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    BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • MUTYH (MutY homolog)
    1m
    Genome-Scale CRISPR Screens Reveal DNA Repair Dependencies That Sensitize Hepatocellular Carcinoma to Oxaliplatin. (PubMed, Cancers (Basel))
    In the HAIC cohort, several DDR genes, including ATR, BRCA2, CDK7, MUS81, MUTYH, PARG, POLH, POLK and XPA, were significantly lower in the objective response group. DDR components represent candidate biomarkers and therapeutic targets whose inhibition may enhance oxaliplatin efficacy in HCC.
    Journal • BRCA Biomarker
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    BRCA2 (Breast cancer 2, early onset) • MUTYH (MutY homolog) • CDK7 (Cyclin Dependent Kinase 7) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) • XPA (XPA, DNA Damage Recognition And Repair Factor) • FANCE (FA Complementation Group E) • MUS81 (MUS81 Structure-Specific Endonuclease Subunit) • SLX4 (SLX4 Structure-Specific Endonuclease Subunit)
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    oxaliplatin
    2ms
    Germline haploinsufficiency of MUTYH causes mutational signature SBS18 in multiple tumour types and specifically raises colorectal cancer risk. (PubMed, NPJ Precis Oncol)
    Mutational signatures in cancers can result in part from non-rare germline variation in DNA repair. The specific effect of MUTYH heterozygosity on CRC risk plausibly reflects the high baseline levels of oxidative damage and SBS18 activity in the colorectum.
    Journal • Tumor mutational burden
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    TMB (Tumor Mutational Burden) • MBD4 (Methyl-CpG Binding Domain 4, DNA Glycosylase) • MUTYH (MutY homolog)