Genetic factors in colorectal cancer

This study identifies 1244 expression STRs (eSTRs) in colorectal cancer, showing their association with gene expression and mutability in MSI tumors, suggesting potential therapeutic targets.

MSIsensor-RNA detects microsatellite instability from bulk and single-cell gene expression data, showing favorable performance across multiple platforms.

This study evaluates the ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome individuals, finding weak associations in specific subgroups.

This study resolves the etiology of suspected Lynch syndrome tumors by analyzing somatic and germline mutations, methylation, and immunohistochemistry in 137 tumors, identifying key causes of DNA mismatch repair deficiency.

The paper evaluates multiple next-generation sequencing features to predict DNA mismatch repair status in tumors, finding that combining features improves accuracy across different cancer types.

This paper develops a systems approach to improve Lynch syndrome diagnosis by enhancing tumor testing and referral processes, resulting in increased genetic testing and LS diagnosis rates.

This study shows that inherited MUTYH mutations increase somatic mutation rates and specific mutational signatures in normal human cells, contributing to cancer risk without causing premature aging.

The paper develops a high-coverage sequencing approach to profile microsatellite and chromosomal instability in colorectal cancer, revealing co-occurrence of MSI and CIN features.

The paper identifies pathogenic variants in Lynch Syndrome genes in patients with multiple cancers and finds higher prevalence of non-LS gene variants in early-onset cases.

This study identifies 13 new genetic loci specific to proximal or distal colorectal cancer subtypes, revealing partly distinct genetic architectures for these tumor locations.

This study uses germline and tumor whole genome sequencing to identify the cause of mismatch repair deficiency in suspected Lynch syndrome cases, finding that most cases are due to somatic mutations rather than inherited variants.

The paper functionally tests MSH2 missense variants to determine their impact on Lynch Syndrome risk, finding most are neutral and providing a comprehensive functional map.

The paper identifies a novel RPS20 splice donor variant linked to familial CRC and polyposis, showing aberrant splicing and supporting a haploinsufficiency mechanism.

The paper analyzes POLE exonuclease domain mutants in colorectal cancer, identifying mutation spectra differences and a specific TP53 mutation enrichment.

MSIsensor-pro detects microsatellite instability without matched normal samples, outperforming existing methods in accuracy and speed.

This study examines the impact of MUTYH mutations on protein interactions and repair capacity in Familial Adenomatous Polyposis and colorectal cancer.

This study identifies retrotransposon insertions in colorectal tumors, linking them to cancer initiation and poor patient survival.

The paper functionally tests MSH2 missense variants in Lynch syndrome using CRISPR-Cas9 in human embryonic stem cells to assess their impact on DNA repair and MMR function.

This paper develops a reflex workflow using NGS and LR-PCR to accurately detect clinically actionable variants in PMS2 exons while distinguishing them from pseudogene variants.

The paper introduces a panel of short mononucleotide repeats for MSI testing, showing high concordance with traditional methods and potential for scalable, cost-effective tumor classification.

This study identifies novel somatic mutations and altered mutation frequencies in Chinese colorectal cancer patients using whole exome sequencing, highlighting differences from TCGA data.

The paper identifies mutational signatures linked to DNA mismatch repair deficiency in C. elegans and human cancers, revealing similarities and differences between species.

The paper identifies ATM and PALB2 as CRC risk genes through germline mutation analysis and highlights homologous recombination deficiency in CRC tumors.