Genetic factors in colorectal cancer

This study shows that Mlh1 haploinsufficiency causes microsatellite instability specifically in the intestine, not in the spleen, before tumorigenesis.

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 screens 12,503 Japanese CRC patients and 23,705 controls for germline variants in 27 cancer genes, finding 3.3% of patients have pathogenic variants linked to CRC risk.

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 study uses single-cell whole-genome sequencing to analyze mutational landscapes in Msh2-deficient mouse fibroblasts, revealing elevated SNVs and INDELs with distinct mutational signatures.

The paper compares two new Lynch syndrome screening protocols with an IHC-based protocol in endometrial cancer patients, finding the brief family history questionnaire and direct-to-sequencing methods more effective and cost-effective.

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.