Genetic factors in colorectal cancer

Heterozygous germline MSH3 mutations, and probably MLH3 mutations, act as classical tumour suppressors, leading to excess somatic deletion mutations, signature ID4 and increased colorectal cancer risk

Hunting for microsatellite instability in long-read data with Owl

Owl quantifies microsatellite instability from long-read data, identifying MSI-high genomes and motif-specific patterns in cancer samples.

Tracing the stemness and malignant transition in a heritable colorectal cancer Lynch Syndrome by single-cell RNA-seq analysis

This paper uses single-cell RNA sequencing to analyze cellular changes in Lynch Syndrome colorectal cancer, identifying cancer stem cells, immune infiltration, and mutation burden during malignant transition.

MAIT cell enrichment in Lynch syndrome is associated with immune surveillance and colorectal cancer risk

The paper identifies MAIT cell enrichment in Lynch syndrome carriers without CRC, linked to immune surveillance and reduced cancer risk.

MSIanalyzer: Targeted Nanopore Sequencing Enables Single Nucleotide Resolution Analysis of Microsatellite Instability Diversity

MSIanalyzer uses targeted nanopore sequencing to analyze microsatellite instability at single-nucleotide resolution, revealing distinct repeat profiles and allelic diversity in cancer cell lines.

Analysis of Microsatellite Instability Intensity in Single-Cell Resolution with scMnT reveals Tumor Heterogeneity in Colorectal Cancer

This study introduces scMnT, a method to quantify microsatellite instability (MSI) intensity at single-cell resolution in colorectal cancer, revealing heterogeneity and associations with immunotherapy response and cell origin.

Reference-free microsatellite instability detection from tumor sequencing using intrasample variability modeling

PROMIS detects microsatellite instability in tumor sequencing without reference data or matched normals, achieving high accuracy across multiple cancer types and sample types.

Intratumoral heterogeneity in microsatellite instability at single cell resolution

The paper investigates intratumoral heterogeneity in microsatellite instability (MSI) using single-cell sequencing data, finding evidence of MSI status variation within tumors classified as MSI-H or MSS.

Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants

The paper analyzes DNA repeat instability in 700,000 participants to identify genetic modifiers of repeat expansion and contraction rates and their clinical associations.

Genetically induced mouse model for colon-specific epithelial cell tumorigenesis driven by loss of K8 and Apc

This study develops a genetic, colon-specific mouse model of colorectal cancer driven by K8 and Apc loss, showing increased tumorigenesis and reduced K8 expression in human patients.

Constrained hypermutation and absence of TERT promoter mutations in Lynch syndrome-associated urothelial cancer

This study analyzes the somatic mutation landscape of Lynch syndrome-associated urothelial cancer and finds a lack of TERT promoter mutations and a distinct mutation profile.

APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites

The paper analyzes UK Biobank data to assess the association of APC I1307K variant with colorectal cancer risk in Ashkenazi and non-Ashkenazi whites, finding no significant association and highlighting the need for larger studies.

Saturation mapping of MUTYH variant effects using DNA repair reporters

The paper maps the functional effects of MUTYH variants using deep mutational scanning and DNA repair reporters, resolving variants of uncertain significance and identifying risk-associated mutations.

Unusual profile of germline genetic variants in unselected colorectal cancer patients from a high-prevalence region in Panama

The study identifies germline genetic variants in 95 Panamanian colorectal cancer patients, finding 10% with pathogenic variants in MUTYH, CHEK2, and other genes, but no mutations in mismatch repair genes.

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

This study identifies biallelic germline variants in MCM8 and MCM9 as linked to polyposis, gastric cancer, early-onset colorectal cancer, and hypogonadism, with MCM9 variants showing stronger associations.

Multicancer analyses of short tandem repeat variations reveal shared gene regulatory mechanisms

The paper identifies STR variations associated with gene expression and DNA methylation across three cancer types and finds shared regulatory mechanisms.

Disentangling the mutational effects on protein stability and interaction of human MLH1

This paper investigates how MLH1 mutations affect protein stability and interaction with PMS2, identifying regions that influence these properties and distinguishing pathogenic from benign variants.

Molecular Heterogeneity in Early-Onset Colorectal Cancer: Pathway-Specific Insights in High-Risk Populations

This study identifies pathway-specific molecular differences in early-onset colorectal cancer (EOCRC) between Hispanic/Latino and non-Hispanic White populations, revealing distinct genetic alterations and potential ethnicity-specific survival implications.

Detecting PI3K and TP53 Pathway Disruptions in Early-Onset Colorectal Cancer Among Hispanic/Latino Patients

This study identifies higher PI3K and mTOR pathway alterations in early-onset CRC among Hispanic/Latino patients compared to non-Hispanic White patients, with improved outcomes linked to TP53 alterations.

Ethnicity-specific molecular alterations in MAPK and JAK/STAT pathways in early-onset colorectal cancer

This study identifies ethnicity-specific molecular alterations in MAPK and JAK/STAT pathways in early-onset colorectal cancer, showing higher MAPK mutations in Hispanic/Latino patients and potential prognostic implications.

Effect of MisMatch Repair Deficiency on metastasis occurrence modelized in a syngeneic mouse model

This study develops a syngeneic mouse model of MSI cancer and shows that immune responses regulate metastasis in MSI-H tumors, with specific immune cell infiltration observed in metastatic sites.

Mitochondrial defects and metabolic vulnerabilities in Lynch syndrome-associated MSH2-deficient endometrial cancer

This study identifies mitochondrial dysfunction and metabolic reprogramming in MSH2-deficient endometrial cancer, revealing a novel pathway and potential therapeutic targets.

A comprehensive multi-omics study reveals potential prognostic and diagnostic biomarkers for colorectal cancer

This study integrates copy number and mutation data with gene expression to identify prognostic and diagnostic biomarkers for colorectal cancer.

A Comparative Genomic Analysis of Left- and Right-Sided Colon Cancer Using Real-World Data from the AACR Project GENIE BPC Dataset

This study compares genomic features of left- and right-sided colon cancers using real-world data, finding significant differences in mutation burdens and survival outcomes.

Optimizing Genetic Testing Strategy for Suspected Attenuated Adenomatous Polyposis: Effective Solutions in Public Health Systems

This paper develops a probability calculator that combines age and polyp count to improve genetic testing strategies for hereditary attenuated adenomatous polyposis syndromes.

Genetic variation at 11q23.1 confers colorectal cancer risk by dysregulation of colonic tuft cell transcriptional activator POU2AF2

This study identifies rs3087967 as the causal variant at 11q23.1 that increases colorectal cancer risk by dysregulating POU2AF2, a key activator of tuft cell transcription.

A maternal germline mutator phenotype in a family affected by heritable colorectal cancer

The paper measures germline mutation rates in a family with MUTYH pathogenic variants, finding elevated C>A mutations in children of affected mothers but not fathers, suggesting maternal-specific mutator effects.

Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank

The paper estimates cancer risk in Lynch syndrome carriers using UK Biobank data, finding elevated colorectal and endometrial cancer risks but not breast cancer.

High Probability of Lynch Syndrome among colorectal cancer patients in Indonesia is associated with higher occurrence of KRAS and PIK3CA mutations

The paper examines the association between Lynch Syndrome and KRAS/PIK3CA mutations in Indonesian colorectal cancer patients, finding significant links between these mutations and MSI status and clinicopathological features.

MSIsensor-RNA: microsatellite instability detection for bulk and single-cell gene expression data

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