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    GENE:

    MUTYH (MutY homolog)

    i
    Other names: MUTYH, MYH, MutY homolog
    8d
    RIPAF: Familial Adenomatous Poliposys Italian Network (Rete Italiana Poliposi Adenomatosa Familiare) (clinicaltrials.gov)
    P=N/A, N=1500, Active, not recruiting, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano
    New trial
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    POLE (DNA Polymerase Epsilon) • POLD1 (DNA Polymerase Delta 1) • MSH3 (MutS Homolog 3) • MUTYH (MutY homolog)
    13d
    Identification of Genetic Variants Among Breast Cancer Patients and At-Risk Individuals: A Cohort Study in Sri Lanka. (PubMed, Breast Cancer (Auckl))
    Three pathogenic variants, BRCA2 [c.6509A>G; c.7879A>T; c.5574_5577delAATT] and PALB2 [c.1592delT], were identified in high-risk genes important for breast cancer prediction. Identification of population-based variants may improve breast cancer screening and management in Sri Lanka.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • MUTYH (MutY homolog)
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    BRCA2 mutation • PALB2 mutation
    19d
    Structural pharmacogenomics of drug-associated SNPs in oral squamous cell carcinoma. (PubMed, Front Genet)
    The highly prevalent FLT3 T227M (rs1933437) variant was predicted to alter receptor dimerization and potentially modulate sunitinib binding...These findings demonstrate how pharmacogenomics-guided structural analysis can reveal mechanistic links between OSCC-associated variants and therapeutic response. While our results are based on in silico modeling, they provide a biologically grounded framework for prioritizing variants for experimental validation and for advancing population-specific precision oncology in OSCC.
    Journal
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    FLT3 (Fms-related tyrosine kinase 3) • MSH3 (MutS Homolog 3) • MUTYH (MutY homolog) • XPC (XPC Complex Subunit, DNA Damage Recognition And Repair Factor) • XRCC1 (X-Ray Repair Cross Complementing 1)
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    sunitinib
    19d
    OGG1 and MUTYH DNA Glycosylases, the Dynamic Duo Against 8-Oxoguanine DNA Lesion: Structure, Regulation, and Novel Emerging Roles. (PubMed, Biomolecules)
    In the absence of regulation, inappropriate and imbalanced DG activity may trigger telomeric instability, changes in transcriptional profiles and cell death. This review focuses on summarizing key features of OGG1 and MUTYH function, with a special emphasis on structure, regulation, and novel emerging roles.
    Review • Journal
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    MUTYH (MutY homolog)
    30d
    Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort. (PubMed, Clin Transl Oncol)
    Non-BRCA1/2 genes, particularly CHEK2 and ATM, substantially contribute to the spectrum of pathogenic variants detected in hereditary cancer testing. The identification of numerous pathogenic and novel variantssupports the clinical utility of broad multigene panel testing, while highlighting the need for careful interpretation of VUS in clinical practice.
    Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog)
    30d
    Multifocal Breast Cancer With Discordant Molecular Profiles in a Patient With NF1 and MUTYH Germline Variants: A Case Report. (PubMed, Cureus)
    The patient was treated with neoadjuvant chemotherapy followed by unilateral mastectomy. This case illustrates the clinical utility of evaluating all foci in multifocal high-grade disease to ensure appropriate systemic therapy and highlights the challenges of interpreting germline variants in the absence of well-described genotype-phenotype associations.
    Journal
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    HER-2 (Human epidermal growth factor receptor 2) • NF1 (Neurofibromin 1) • MUTYH (MutY homolog)
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    HR negative • EGFR positive
    1m
    Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer. (PubMed, United European Gastroenterol J)
    Integrating germline testing into surveillance redefines the management of familial PC. It uncovers hereditary susceptibility beyond classical criteria and supports cascade testing. PC also arises in mutation-negative HRI. #NCT05724992.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • PALB2 (Partner and localizer of BRCA2) • BRCA (Breast cancer early onset) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • MUTYH (MutY homolog) • SPINK1 (Serine peptidase inhibitor, kazal type 1) • CTRC (Chymotrypsin C)
    1m
    Subsequent primary cancer risks for non-hereditary colorectal cancer survivors. (PubMed, EClinicalMedicine)
    In non-hereditary colorectal cancer survivors, overall SPC risks are not elevated, but early-onset cases have higher risks and therefore warrant targeted surveillance and follow-up. National Institutes of Health (U01 CA167551) and National Health and Medical Research Council (1194392).
    Journal
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    MUTYH (MutY homolog)
    2ms
    Genetic investigation of a Tunisian family with Lynch syndrome: a case report. (PubMed, Front Oncol)
    NGS analysis of the tumor tissue revealed a pathogenic BRCA2 variant (c.1813delA, p.Ile605TyrTer9), which provides a potential target for personalized therapy. This case report highlights the co-segregation of a rare pathogenic MSH2 variant in a Tunisian family and underscores its clinical implications for improving the management and surveillance of patients with Lynch syndrome.
    Journal • BRCA Biomarker • MSi-H Biomarker
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    BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • MUTYH (MutY homolog)
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    MSI-H/dMMR
    2ms
    Mutational patterns and ancestry-linked profiles in a large hepatocellular carcinoma and combined hepatocellular-cholangiocarcinoma cohort. (PubMed, ESMO Open)
    Our study represents one of the largest cohorts of HCC and cHCC-CCA patients with genomic data and highlights the critical role of integrated molecular diagnostics. Beyond uncovering therapeutic targets, next-generation sequencing profiling offers significant benefits in improving diagnostic accuracy for liver cancer.
    Journal • Tumor mutational burden
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • BAP1 (BRCA1 Associated Protein 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • MUTYH (MutY homolog)
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    TMB-H
    2ms
    Prevalence of Germline Variants in Breast, Ovarian, and Prostate Cancer in Uruguay. (PubMed, Clin Genet)
    Genetic testing should be considered for all cancer patients in Uruguay, regardless of ancestry or tumor type. Further research is needed to better understand the role of less-characterized genes in BC, OvC, and PCa predisposition.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • BRCA (Breast cancer early onset) • RAD51C (RAD51 paralog C) • MUTYH (MutY homolog)
    2ms
    Age- and Sex-Based Differences in the Genomic Profiles of Patients with Gastrointestinal and Pancreatic Neuroendocrine Neoplasms. (PubMed, Oncologist)
    Our study queries one of the largest datasets of GI- and P-NENs to date and highlights distinct age- and sex-specific molecular and immune profiles. Given the exploratory nature of these analyses and borderline significance, these results remain hypothesis-generating, providing an initial framework for future validation studies.
    Journal • MSi-H Biomarker • IO biomarker
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • RB1 (RB Transcriptional Corepressor 1) • TERT (Telomerase Reverse Transcriptase) • KMT2D (Lysine Methyltransferase 2D) • LAG3 (Lymphocyte Activating 3) • SMAD4 (SMAD family member 4) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • APC (APC Regulator Of WNT Signaling Pathway) • FAT1 (FAT atypical cadherin 1) • HAVCR2 (Hepatitis A Virus Cellular Receptor 2) • CD4 (CD4 Molecule) • MUTYH (MutY homolog) • CD80 (CD80 Molecule)
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    TP53 mutation • KRAS mutation • MSI-H/dMMR • PIK3CA mutation