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    GENE:

    MLH1 (MutL homolog 1)

    i
    Other names: MLH1, COCA2, FCC2, HNPCC, HNPCC2, MutL homolog 1
    1d
    Relationship between MLH1, MSH2, MSH6, and PMS2 protein expression status and clinicopathological characteristics in colorectal cancer tissues. (PubMed, Front Med (Lausanne))
    These findings support the value of routine IHC-based MMR testing in CRC patients. However, confirmatory molecular testing (e.g., MSI analysis, BRAF V600E mutation, MLH1 promoter methylation, or germline sequencing) is necessary to differentiate sporadic from Lynch syndrome-associated dMMR cases and to fully guide Lynch syndrome screening and immunotherapy decisions.
    Journal • IO biomarker
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    BRAF (B-raf proto-oncogene) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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    BRAF V600E • MSI-H/dMMR • BRAF V600
    1d
    Mismatch repair protein deficiency (MMRd) and high microsatellite instability (MSI-H) in gastrointestinal stromal tumour (GIST) - a case report and review of the literature of this exceedingly rare phenotype. (PubMed, Virchows Arch)
    MSI testing by MSI PCR, however, showed a microsatellite stable result. This highlights how MSI PCR may not be sufficiently sensitive in detecting MSI-H status in tumour types outside of colorectal carcinomas.
    Journal • Mismatch repair • Tumor mutational burden • Microsatellite instability • MSi-H Biomarker • MSI-H • dMMR
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    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • ANO1 (Anoctamin 1)
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    MSI-H/dMMR
    5d
    Machine Learning Algorithm for the Detection of Tumor Microsatellite Instability Based on Multiomics Biomarkers. (PubMed, JCO Clin Cancer Inform)
    Our ML approach accurately predicted MSI status in colorectal and uterine cancers using multiomics data derived from NGS, without relying on direct microsatellite sequencing. The ability to identify MSI-high tumors among indeterminate cases demonstrates potential to improve diagnostic precision and ensures timely access to immunotherapy for patients with MSI-high disease.
    Journal • Tumor mutational burden • Microsatellite instability • MSi-H Biomarker • IO biomarker
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    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
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    MSI-H/dMMR
    8d
    Spontaneous Regression of Poorly Differentiated Carcinoma in the Transverse Colon with Deficient Mismatch Repair: A Case Report and Review. (PubMed, Surg Case Rep)
    We report an extremely rare case of SR of poorly differentiated CRC with dMMR and marked TILs. Enhanced tumor immunogenicity associated with dMMR and immune activation may contribute to CRC regression.
    Journal • Mismatch repair • MSi-H Biomarker • dMMR
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    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • CDX2 (Caudal Type Homeobox 2)
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    MSI-H/dMMR
    8d
    Frequency of germline pathogenic variants in breast cancer predisposing genes in a national cohort of young women with breast cancer. (PubMed, Br J Cancer)
    Overall, 18.6% of women with young breast cancer had PVs in 18 genes tested, including 6.8% in a gene other than BRCA1 or BRCA2. Study results suggest that genetic testing should be offered to all women diagnosed breast cancer at the age of 40 or younger.
    Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • STK11 (Serine/threonine kinase 11) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • BARD1 (BRCA1 Associated RING Domain 1)
    8d
    SMT-SL: Determining the Prevalence of Muir-Torre Syndrome in Patients With Lynch Syndrome (clinicaltrials.gov)
    P=N/A, N=150, Recruiting, Centre Hospitalier Universitaire de Nīmes | Not yet recruiting --> Recruiting | Initiation date: Dec 2025 --> Mar 2026
    Enrollment open • Trial initiation date
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    9d
    Mismatch repair protein "nonclassic expression loss" pattern in colorectal cancer: an important staining pattern that is not well understood. (PubMed, Am J Clin Pathol)
    Microsatellite instability high status (30.77%) and Lynch syndrome (3.85%) can occur in patients with only nonclassic loss of MMR proteins (without the B pattern). It is necessary to deepen our understanding of nonclassical MMR expression patterns to avoid missing patients with microsatellite instability high status and Lynch syndrome.
    Retrospective data • Journal • Mismatch repair • MSi-H Biomarker
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    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • PMS2 (PMS1 protein homolog 2)
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    MSI-H/dMMR
    9d
    A Rare Case of Seminoma in an Elderly Patient With Suspected Lynch Syndrome. (PubMed, Clin Case Rep)
    These findings raise suspicion for Lynch syndrome. This case is interesting because seminoma and colorectal cancer were both identified in a patient with features suggestive of a hereditary cancer syndrome.
    Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    12d
    Causal Effects and Single-Cell Microenvironmental Implications of Germline Variant-Regulated Lactylation-Related Pro-Oncogenic Genes in Colorectal Cancer. (PubMed, Hum Mutat)
    MLH1 and RAD50 were retained as candidate risk genes at the germline causal level. This study integrates germline variant-based causal inference with single-cell microenvironmental interpretation, highlighting germline variant-regulated lactylation in promoting colorectal cancer risk.
    Journal
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    MLH1 (MutL homolog 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • FASN (Fatty acid synthase) • AXIN1 (Axin 1)
    12d
    Histological predictors of mismatch repair deficiency in endometrial endometrioid carcinoma. (PubMed, Pathol Res Pract)
    These pilot study results suggest that conventional histopathology can be a cost-effective screening tool for identifying endometrial endometrioid cancers likely to be MMR-deficient. Larger cohorts are needed to further validate the findings.
    Journal • Mismatch repair
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    MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
    12d
    The marsupial imprinted gene MLH1 has retrocopies in three marsupial families. (PubMed, Epigenetics Chromatin)
    This second site of MLH1 expression may have introduced redundancy to MLH1 expression and compensate for silencing of the maternal MLH1 allele in marsupials.
    Journal
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    MLH1 (MutL homolog 1)
    12d
    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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