Genetic factors in colorectal cancer

Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer

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

MSIsensor-pro: fast, accurate and matched-normal-sample-free detection of microsatellite instability

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

Association of Functional Variants and Protein-to-Protein Physical Interactions of Human MutY homolog linked with Familial Adenomatous Polyposis and colorectal cancer Syndrome

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

Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

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

Functional Interrogation of Lynch Syndrome Associated MSH2 Missense Variants Using CRISPR-Cas9 Gene Editing in Human Embryonic Stem Cells

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.

Single-cell whole-genome sequencing reveals mutational landscapes of DNA mismatch repair deficiency in mouse primary fibroblasts

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.

Clinical and Cost Effectiveness of Two New Lynch Syndrome Case Finding Protocols in Endometrial Cancer Population Contrasted with the IHC-based Protocol

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.

Detecting clinically actionable variants in the 3’ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene

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.

A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours

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.

The landscape of somatic mutation in sporadic Chinese colorectal cancer

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

Mutational signatures of DNA mismatch repair deficiency in C. elegans and human cancers

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

Inherited DNA Repair Defects in Colorectal Cancer

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