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BIOMARKER:

MLH1 deletion

i
Other names: MLH1, COCA2, FCC2, HNPCC, HNPCC2, MutL homolog 1
Entrez ID:
Related biomarkers:
7ms
From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene. (PubMed, Mol Genet Genomic Med)
Our finding suggested that although NGS technologies have increased variant detection yield, combined approaches were still needed for complex variant characterization and pathogenicity assessment.
Journal
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MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
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MLH1 deletion
8ms
Exploring the Expression and Prognosis of Mismatch Repair Proteins and PD-L1 in Colorectal Cancer in a Chinese Cohort. (PubMed, Cancer Manag Res)
Deletion of MMR proteins and expression of PD-L1 are closely related to clinicopathological characteristics and overall prognosis of CRC patients. This suggests the relevance of MMR and PD-L1 as potential biomarkers for treatment of CRC patients.
Journal • Mismatch repair • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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PD-L1 expression • MSI-H/dMMR • MSH2 deletion • MLH1 deletion • MSH6 deletion • MSH6 expression
over1year
The impact of mismatch repair deficiency (MMRD) on survival of temozolomide (TMZ)-treated patients with MGMT methylated (m-MGMT) glioblastoma (GBM): a Cellworks computational biosimulation pilot study (SNO 2022)
Background: TMZ-induced G:T mismatches trigger MMR to perform futile repair of O6-methylguanine leading to apoptosis. Up to half of GBM patients have MMRD caused by pathway dysregulation. Biosimulation of MMRD predicts early progression on TMZ, echoing the long-held observation that TMZ does not trigger apoptosis in MMRD cancers. The study also reports inferior OS for MMRD compared to the historical experience of unmethylated-MGMT patients, suggesting that TMZ-induced hypermutation may compromise survival.
Clinical • Mismatch repair • IO biomarker
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ARID1A (AT-rich interaction domain 1A) • MGMT (6-O-methylguanine-DNA methyltransferase) • KMT2A (Lysine Methyltransferase 2A) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • CREBBP (CREB binding protein) • EP300 (E1A binding protein p300) • MIR21 (MicroRNA 21)
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IDH wild-type • MLH1 deletion
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temozolomide • lomustine
over2years
The Clinicopathological Characteristics and Prognoses of dMMR Gastric Adenocarcinoma Patients. (PubMed, Gastroenterol Res Pract)
dMMR GC patients tended to be early stage, and the prognosis of those with early-stage GC was better. dMMR GC patients with vascular tumor thrombus or >6 LN metastases had a high recurrence rate and poor survival outcome.
Clinical • Journal
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HER-2 (Human epidermal growth factor receptor 2) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
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MSI-H/dMMR • HER-2 expression • MLH1 deletion
over2years
Therapeutic HDAC inhibition in hypermutant diffuse intrinsic pontine glioma (SNO 2021)
In vitro evaluation of cell viability revealed the low nanomolar IC 50 of quisinostat (50nM) and romidepsin (2nM). Transcriptomic and proteomic investigations are underway to identify the mechanism of action underlying quisinostat-induced cytotoxicity. Ultimately, we are the first to demonstrate in vivo efficacy of the HDACi quisinostat against hypermutant DIPG, supporting further investigation and clinical advancement.
PARP Biomarker
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MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • PARP1 (Poly(ADP-Ribose) Polymerase 1)
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PMS2 mutation • MLH1 deletion
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Istodax (romidepsin) • quisinostat (JNJ 26481585)
almost3years
[VIRTUAL] Beta 2 microglobulin deficiency does not preclude response to combined CTLA-4 and PD1 blockade in mismatch repair deficient murine cancers (EACR 2021)
We highlight the role of tumor associated effector CD4+ T cells in pre-clinical models and patients with impaired APM. Overall, our findings highlight that the absence of B2M in MMRd cancers, does not prevent clinic response to immune checkpoint blockade.
Preclinical • Mismatch repair • PD(L)-1 Biomarker • IO biomarker
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CD8 (cluster of differentiation 8) • MLH1 (MutL homolog 1) • B2M (Beta-2-microglobulin) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • CD4 (CD4 Molecule)
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MSI-H/dMMR • B2M mutation • MLH1 deletion
almost3years
Analysis of the Clinicopathological Characteristics of Stage I-III Colorectal Cancer Patients Deficient in Mismatch Repair Proteins. (PubMed, Onco Targets Ther)
Our results show that dMMR status may be more likely exist in female and younger (≤55 years) patients with a greater tumor burden (>5cm), right colon, T4 stage disease, poor differentiation and mucinous adenocarcinoma. Loss of PMS2 and MLH1 is the most common pattern of MMR protein expression deficiency, followed by concurrent deletion of MSH2 and MSH6.
Clinical • Journal • Mismatch repair
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MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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MSI-H/dMMR • MSH2 deletion • MLH1 deletion • MSH2 deletion + MSH6 deletion • MSH6 deletion
3years
Thymic cancer in lynch syndrome: an unusual association. (PubMed, BMJ Case Rep)
She received carboplatin and paclitaxel, with initial clinical improvement, but then died within 3 months after diagnosis. This case highlights that thymic cancer may be one of the malignancies associated with Lynch syndrome, and MLH1 gene mutation may have a role in the pathogenesis of thymic cancer.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • MLH1 (MutL homolog 1)
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MSI-H/dMMR • KIT mutation • MLH1 mutation • MLH1 deletion
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carboplatin • paclitaxel
over3years
Targeted next-generation sequencing as a diagnostic tool in gastrointestinal system cancer/polyposis. (PubMed, Tumori)
The accumulation of analyses with multigene testing will increase the available data for cancer predisposition genes in hereditary gastrointestinal cancer/polyposis. Educational campaigns for prevention, efficient screening programs, and more personalized care based on the profile of individual patients are necessary.
Clinical • Journal
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MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • EPCAM (Epithelial cell adhesion molecule)
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MLH1 deletion
over3years
Clinicopathological features and types of microsatellite instability in 1394 patients with colorectal cancer (PubMed, Nan Fang Yi Ke Da Xue Xue Bao)
The main type of dMMR is co-deletion of MLH1 and PMS2 in patients with colorectal cancer. dMMR colorectal cancer has typical clinicopathological features and a lower incidence in China than in Western countries. The results of immunohistochemistry and PCR-CE are highly consistent for detecting dMMR in colorectal cancer patients.
Clinical • Journal • Microsatellite Instability
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MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
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MSI-H/dMMR • MLH1 deletion
over3years
HNRNPCL1, PRAMEF1, CFAP74, and DFFB: Common Potential Biomarkers for Sporadic and Suspected Lynch Syndrome Endometrial Cancer. (PubMed, Cancer Manag Res)
There were some differences in the number of specific mutations in the families of different LS-related EC proband. HNRNPCL1, PRAMEF1, CFAP74, and DFFB may be potential biomarkers for EC or LS-related EC.
Journal
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MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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MLH1 deletion • MSH6 deletion