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    BIOMARKER:

    MLH1 mutation

    i
    Other names: MLH1, COCA2, FCC2, HNPCC, HNPCC2, MutL homolog 1
    Entrez ID:
    4292
    Related biomarkers:
    Mutation
    CNA
    Others
    11ms
    MLH1 promoter hypermethylation and Lynch Syndrome: When to test for constitutional epimutations of MLH1 gene? (PubMed, Tumori)
    MLH1 epimutations could be secondary to other genetic defects and follow an autosomal dominant inheritance. On the contrary, primary epimutations are often "de novo" events, and their transmission does not follow Mendelian rules.
    Journal
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    MSI (Microsatellite instability) • MLH1 (MutL homolog 1)
    |
    MLH1 mutation
    11ms
    Genome-Wide Screening in Haploid Stem Cells Reveals Synthetic Lethality Targeting MLH1 and TP53 Deficient Tumours. (PubMed, Cell Prolif)
    The specific effects of SR1848, which inhibits NR5A2, ON1231320 or BI2536, which inhibits PLK2, and blebbistatin, which inhibits MYH10, were further validated in cancer cell lines. Finally, animal studies with CCL xenografts showed the selective effect of the small molecule BI2536 on MLH1-null tumours and of blebbistatin on TP53-mutated tumours. Thus, demonstrating their potential for personalised medicine, and the robustness of genetic screening in haploid hESCs in the context of cancer therapeutics.
    Journal
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    TP53 (Tumor protein P53) • MLH1 (MutL homolog 1) • PLK2 (Polo Like Kinase 2) • NR5A2 (Nuclear Receptor Subfamily 5 Group A Member 2)
    |
    TP53 mutation • MLH1 mutation
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    BI2536 • GBO-006-1
    11ms
    Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications. (PubMed, ESMO Open)
    We identified two intimal sarcoma molecular subtypes. Compared with CNV-H, MSI-H-like is enriched in pathways associated with tumor immune responses and TILs. Further efforts and clinical trials to better define these molecular subtypes are warranted to open new avenues for personalized treatment approaches and improve patient outcomes.
    Journal • MSi-H Biomarker • PD(L)-1 Biomarker
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    MSI (Microsatellite instability) • MDM2 (E3 ubiquitin protein ligase) • IFNG (Interferon, gamma) • IL6 (Interleukin 6) • MLH1 (MutL homolog 1) • CDK4 (Cyclin-dependent kinase 4) • TNFA (Tumor Necrosis Factor-Alpha)
    |
    MSI-H/dMMR • MDM2 amplification • CDK4 amplification • MLH1 mutation
    |
    Keytruda (pembrolizumab)
    11ms
    Case report: Exploring Lynch Syndrome through genomic analysis in a mestizo Ecuadorian patient and his brother. (PubMed, Front Med (Lausanne))
    Treatment involved surgery and chemotherapy for the older brother, emphasizing the importance of genetic testing for siblings with a cancer family history. NGS plays a pivotal role in identifying genetic mutations and guiding treatment decisions, demonstrating its significance in managing LS and other hereditary cancers.
    Journal
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    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    |
    MSH2 mutation • MLH1 mutation • PMS2 mutation
    12ms
    MesaCAPP: Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome (clinicaltrials.gov)
    P2, N=150, Recruiting, Ann-Sofie Backman | N=260 --> 150 | Trial completion date: Oct 2038 --> Sep 2045 | Trial primary completion date: Oct 2028 --> Sep 2032
    Enrollment change • Trial completion date • Trial primary completion date
    |
    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • EPCAM (Epithelial cell adhesion molecule)
    |
    MSH2 mutation • MLH1 mutation
    1year
    Germline mismatch repair gene mutations in children with tumors: a case series from two centers. (PubMed, Transl Pediatr)
    A better diagnostic approach is to perform genetic testing to rule out the risk as early as possible when a newborn presents with cafe-au-lait spots, which are a typical feature of hereditary syndromes. Therefore, it is important to use germline genetic testing, combined with clinical phenotypic observation, to establish a diagnosis of a cancer susceptibility syndrome caused by an MMR gene mutation.
    Journal • Mismatch repair
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    NF1 (Neurofibromin 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
    |
    MSH6 mutation • MSH2 mutation • MLH1 mutation
    1year
    Cancer Preventive Vaccine Nous-209 for Lynch Syndrome Patients (clinicaltrials.gov)
    P1/2, N=60, Active, not recruiting, National Cancer Institute (NCI) | Recruiting --> Active, not recruiting
    Enrollment closed
    |
    BRAF (B-raf proto-oncogene) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
    |
    BRAF mutation • MSH2 mutation • MLH1 mutation • PMS2 mutation
    |
    NOUS-209
    1year
    PancreasScan: Pancreatic Cancer Screening for At-risk Individuals (clinicaltrials.gov)
    P=N/A, N=1395, Recruiting, Beth Israel Deaconess Medical Center | N=500 --> 1395 | Trial completion date: Mar 2028 --> Dec 2032 | Trial primary completion date: Mar 2027 --> Dec 2032
    Enrollment change • Trial completion date • Trial primary completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • BRCA (Breast cancer early onset) • EPCAM (Epithelial cell adhesion molecule) • PRSS1 (Serine Protease 1)
    |
    BRCA2 mutation • BRCA1 mutation • PALB2 mutation • CDKN2A mutation • MLH1 mutation • PMS2 mutation • BRCA mutation
    1year
    Anticipation in families with MLH1-associated Lynch syndrome. (PubMed, Cancer)
    The current results demonstrated evidence in support of anticipation in families with MLH1-associated LS across all statistical models. Mutational effects on Mlh1 activity influenced the hazard for CRC/EC. Screening based on the youngest age of cancer diagnosis in MLH1-LS families is recommended.
    Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • EPCAM (Epithelial cell adhesion molecule)
    |
    MLH1 mutation
    1year
    Clinicopathological and Molecular Genetic Insights into EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma. (PubMed, Hum Pathol)
    Compared with the FDCS group, EBV+ IFDCS patients had a significantly longer median PFS time (p<0.05). In conclusion, EBV+ IFDCS represents a group of tumors with unique clinical, morphological, immunological, prognostic, and molecular cytogenetic characteristics.
    Journal
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    EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • RUNX1 (RUNX Family Transcription Factor 1) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • STAT3 (Signal Transducer And Activator Of Transcription 3) • CXCL13 (Chemokine (C-X-C motif) ligand 13) • MTHFR (Methylenetetrahydrofolate Reductase) • SSTR2 (Somatostatin Receptor 2) • NQO1 (NAD(P)H dehydrogenase, quinone 1) • FANCG (FA Complementation Group G) • CDKN1C (Cyclin Dependent Kinase Inhibitor 1C) • CR1 (Complement C3b/C4b Receptor 1) • FCER2 (Fc Fragment Of IgE Receptor II)
    |
    EGFR expression • PDGFRA mutation • MSH2 mutation • MLH1 mutation • STAT3 expression • FANCG mutation
    1year
    Age- and ethnic-driven molecular and clinical disparity of East Asian breast cancers. (PubMed, BMC Med)
    Our findings collectively provide unprecedented insights into the significance of age and ethnicity on the molecular and clinical characteristics of BC patients.
    Journal
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    HER-2 (Human epidermal growth factor receptor 2) • ARID1A (AT-rich interaction domain 1A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • GATA3 (GATA binding protein 3)
    |
    HER-2 positive • HR positive • PIK3CA mutation • HER-2 mutation • ARID1A mutation • MLH1 mutation • GATA3 mutation
    |
    MSK-IMPACT
    1year
    The clinical utility of next generation sequencing in endometrial cancer: focusing on molecular subtyping and lynch syndrome. (PubMed, Front Genet)
    Conducting germline mutation testing for MMR genes in all patients with endometrial carcinoma can effectively prevent instances of overlooked LS diagnoses. Nevertheless, the extensive expenses associated with NGS necessitate additional validation and investigation before its clinical implementation can be fully endorsed.
    Journal • Next-generation sequencing
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    TP53 (Tumor protein P53) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • EPCAM (Epithelial cell adhesion molecule)
    |
    TP53 mutation • MSH2 mutation • MLH1 mutation • PMS2 mutation