Genetic factors in colorectal cancer

The paper quantifies the tumorigenic effect of partial APC inactivation in colorectal cancer, finding it confers a 50-fold higher cancer progression risk than complete inactivation.

This paper reviews the phenotypic spectrum of MUTYH-associated polyposis (MAP) to clarify associations between pathogenic MUTYH variants and various cancers and extracolonic manifestations.

The paper specifies MMR gene-specific criteria to the ACMG/AMP classification system, reclassifying some variants and providing a framework for improved pathogenicity assessment.

The paper identifies a frequent PMS2CL pseudogene variant misclassified as a PMS2 variant in Brazilian patients, highlighting diagnostic challenges in genetic testing.

This study analyzes somatic mutational features in colorectal tumors from ancestrally diverse populations, finding ethnic and genetic ancestry associations with mutation patterns.

This study identifies ST2-expressing fibroblasts as drivers of Peutz-Jeghers syndrome polyposis and shows IL-11 as a therapeutic target.

The paper investigates the relationship between chromosome 1p deletion in colorectal cancer and lower grade glioma, suggesting a possible link with the enteric nervous system through mutation acquisition from enteric glial cells.

This study optimizes mixed sample analysis for Lynch Syndrome detection, finding that pooling whole blood samples before DNA isolation is cost-effective and detects pathogenic variants at 5% frequency.

The paper investigates how sequencing depth and marker number affect detecting mismatch repair deficiency in colorectal tumors using artificial neural networks.

This study uses targeted next generation sequencing to analyze genetic mutations in Bangladeshi colorectal cancer patients, identifying mutation patterns specific to the population.

The paper measures CAG repeat size in the HTT gene in Lynch syndrome patients and controls, finding larger and more variable repeats in LS patients.

The paper identifies DNA repair and replication defects in early-onset renal cancer patients without known germline variants, suggesting these defects contribute to cancer development and may inform treatment strategies.

This study identifies key molecules and pathways affected by DNA damage in colorectal cancer using RNA-seq data from the GSE189366 dataset.

This paper introduces a method to accurately measure microsatellite lengths by disrupting their tandem repeat structure, achieving error rates below one in a million.

This study classifies MMR-deficient tumors into subtypes based on mutational signatures and immunogenic potential, revealing clinical and molecular differences.

MiMSI improves MSI detection in low tumor purity samples using deep learning and multiple instance learning, achieving higher sensitivity and auROC than existing methods.

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

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.

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.