Genetic factors in colorectal cancer

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.

Prevalence and consequences of APC mosaicism in patients with colorectal adenomas

The paper identifies APC mosaicism in patients with colorectal adenomas, finds higher prevalence in those meeting hereditary polyposis guidelines, and recommends targeted testing and surveillance.

Cancer risks for MSH6 pathogenic variant carriers

This study provides cancer risk estimates for MSH6 pathogenic variant carriers, identifying elevated risks for specific cancers like endometrial and ovarian cancer.

Dissecting DNA-mismatch-repair-driven mutational processes in human cells

This study profiles mutations in MMR-deficient human cells and identifies new mutational signatures linked to MMR deficiency and cancer development.

Lynch syndrome in the general population: low clinical utility of genomic screening for PMS2 pathogenic variants

This study assesses the cancer risk associated with PMS2 pathogenic variants in the general population and finds low clinical utility for genomic screening.

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.

Next generation sequencing identifies a pattern of novel germline variants in early-onset colorectal cancer

The paper identifies 15 genes with high-impact germline variants overrepresented in early-onset colorectal cancer (EOCRC) and shows 11 of these variants are specific to EOCRC.

Analysis of germline genetic variants that cause hereditary coloretal cancer in Bahia

The paper analyzes germline variants in 3,100 individuals from Bahia, Brazil, identifying pathogenic variants linked to hereditary colorectal cancer syndromes.

Assessment of MYC Gene and WNT Pathway Alterations in Early-Onset Colorectal Cancer Among Hispanic/Latino Patients Using Integrated Multi-Omics Approaches

This study identifies distinct molecular features of early-onset colorectal cancer in Hispanic/Latino patients through multi-omics analysis, revealing significant WNT pathway alterations and potential therapeutic targets.

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.

Combined analysis of chromatin accessibility, promoter interactions and whole genome sequencing solved the missing heritability in gastric cancer

The paper identifies novel genetic mechanisms underlying missing heritability in HDGC-like families by integrating chromatin accessibility, promoter interactions, and whole-genome sequencing data.

Development and validation of novel proliferation-related gene signature for MSS colorectal cancer prognosis

The paper identifies GTF2IRD1 as a proliferation-related gene specific to MSS colorectal cancer, showing its association with poor prognosis and potential as a therapeutic target.

Integrative multi-omics profiling of colorectal cancer from a Hispanic/Latino cohort of patients

This study profiles colorectal cancer in Hispanic/Latino patients, finding high genetic similarity to Peruvians-from-Lima-like populations and identifying key mutations and pathways associated with young-onset disease.

TACSTD2 expression marks the early transition to colon adenomas

This study identifies TACSTD2 as a marker of early colon adenoma transition through transcriptome and methylation analysis, with validation in human and mouse models.

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.

Long deletion signatures in repetitive genomic regions track somatic evolution and enable sensitive detection of microsatellite instability

This paper identifies long deletion signatures in repetitive regions as markers of microsatellite instability and develops a classifier to detect MSI in low-quality sequencing data.

Immunological profiles in Lynch syndrome colorectal cancers are not specific to mismatch repair gene defects

The paper examines immune profiles in Lynch syndrome colorectal cancers across different MMR gene defects and finds no significant differences in immunogenic features.

Lower degree of microsatellite instability in colorectal carcinomas from MSH6-associated Lynch syndrome patients

The paper compares microsatellite instability in colorectal carcinomas from MSH6-associated Lynch syndrome patients to other MMR-deficient groups and sporadic MSI CRCs, finding lower MSI in MSH6-mutated tumors.

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications

The paper shows adenomas from individuals with biallelic MUTYH or NTHL1 variants have mutational signatures similar to CRCs, suggesting adenomas can be used for variant classification and cancer prevention.

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.

Quantifying "just-right" APC inactivation for colorectal cancer initiation

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.

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.