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Detection of (pre)cancerous colorectal lesions in Lynch syndrome patients by microsatellite instability liquid biopsy
Lynch syndrome (LS) is an inherited condition characterized by an increased risk of develo** cancer, in particular colorectal cancer (CRC)....
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Left-sided colorectal cancer distinct in indigenous African patients compared to other ethnic groups in South Africa
IntroductionA large proportion of indigenous African (IA) colorectal cancer (CRC) patients in South Africa are young (< 50 years), with no unique...
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Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer
BackgroundMicrosatellite instability (MSI) is a biomarker for better outcomes in colorectal cancer (CRC). However, this conclusion is controversial....
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Universal determination of microsatellite instability using BAT26 as a single marker in an Argentine colorectal cancer cohort
Microsatellite instability (MSI) is a hallmark tool for Lynch syndrome (LS) screening and a prognostic marker for sporadic colorectal cancer (CRC)....
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Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family
Constitutional Mismatch Repair Deficiency (CMMRD) is a rare childhood cancer predisposition syndrome, caused by biallelic pathogenic germline...
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Minor Allele Enrichment in Liquid Biopsies Using Nuclease-Assisted Elimination of Wild-Type DNA
Circulating DNA analysis presents opportunities in harnessing the potential of tumor biomarkers in a minimally invasive manner but also presents...
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Microsatellite instability assessment is instrumental for Predictive, Preventive and Personalised Medicine: status quo and outlook
A form of genomic alteration called microsatellite instability (MSI) occurs in a class of tandem repeats (TRs) called microsatellites (MSs) or short...
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Recent Advancements in the Inhibition of Metastasis of Colorectal Cancer Using Anticancer Compounds
Colorectal cancer (CRC) is the second most common cancer with a high mortality rate. CRC is a multistep process that begins with genetic and...
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SMAD4 Gene Analysis in Patients with Early Onset Colorectal Cancer: A Pilot Study
AbstractIn colorectal cancer (CRC), inactivation of SMAD4 occurs early in the disease development and SMAD4 represents one of key driver genes in...
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Quantitative evaluation of MSI testing using NGS detects the imperceptible microsatellite changed caused by MSH6 deficiency
Microsatellite instability (MSI) is an effective biomarker for diagnosing Lynch syndrome (LS) and predicting the responsiveness of cancer therapy....
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A large family with MSH3-related polyposis
Biallelic MSH3 germline variants are a rare cause of adenomatous polyposis as yet reported in two small families only. We describe the phenotype of a...
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Recent Advancements in the Inhibition of Metastasis of Colorectal Cancer Using Anticancer Compounds
Colorectal cancer (CRC) is the second most common cancer with a high mortality rate. CRC is a multistep process that begins with genetic and...
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Association between c-type lectin-like receptor 2 and microsatellite instability in colorectal cancer: a cross-sectional study
BackgroundAs a transmembrane protein, C-type lectin-like receptor 2 (CLEC-2) is mainly expressed on platelets and released into plasma after platelet...
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Mismatch Repair Status Characterization as an Immune-Related Biomarker in Oncology
The mismatch repair (MMR) system recognizes and corrects DNA bases misincorporation formed during replication and recombination, thus maintaining...
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Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations
BackgroundGermline mutations of breast cancer susceptibility gene BRCA1 and BRCA2 ( gBRCA1/2 ) are associated with elevated risk of breast cancer in...
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Node-negative colon cancer: histological, molecular, and stromal features predicting disease recurrence
BackgroundWithin the group of node-negative colon cancer patients, presumed to have a good prognosis, a significant percentage of patients develops...
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The role of heavy metals in the development of colorectal cancer
ObjectiveTo investigate the relationship among 18 heavy metals, microsatellite instability (MSI) status, ERCC1 , XRCC1 (rs25487) , BRAF V600E and 5...
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A radiomics signature derived from CT imaging to predict MSI status and immunotherapy outcomes in gastric cancer: a multi-cohort study
BackgroundAccurate microsatellite instability (MSI) testing is essential for identifying gastric cancer (GC) patients eligible for immunotherapy. We...
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IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation
Giant cell glioblastoma (GC-GBM) is a rare variant of IDH -wt GBM histologically characterized by the presence of numerous multinucleated giant cells...
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Nectin-4 and DNA mismatch repair proteins expression in upper urinary tract urothelial carcinoma (UTUC) as a model for tumor targeting approaches: an ImGO pilot study
BackgroundUpper urinary tract urothelial carcinoma (UTUC) accounts for only about 5–10% of all urothelial cancers and is characterized by an...
