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BIOMARKER:

MLH1 deletion

i
Other names: MLH1, COCA2, FCC2, HNPCC, HNPCC2, MutL homolog 1
Entrez ID:
Related biomarkers:
1m
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
2ms
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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MLH1 deletion • PMS2 mutation
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Istodax (romidepsin) • quisinostat (JNJ 26481585)
8ms
[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
10ms
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 • MLH1 deletion • MSH2 deletion • MSH2 deletion + MSH6 deletion • MSH6 deletion
1year
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 deletion • MLH1 mutation
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carboplatin • paclitaxel
1year
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
1year
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
1year
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