our Premium Content: News alerts, weekly reports and conference planners

GENE:

MSH2 (MutS Homolog 2)

News alerts, weekly reports and conference planners

A Web-Based Program (Kindred) to Improve the Understanding of Genetic Cancer Risk and Cancer Genetic Testing in African American Families (clinicaltrials.gov)

P=N/A, N=150, Not yet recruiting, University of Michigan Rogel Cancer Center

1 day ago

New trial

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

ScrePan: Pancreatic Cancer Screening in a Population at High Risk (clinicaltrials.gov)

P=N/A, N=700, Recruiting, Masaryk Memorial Cancer Institute | Trial primary completion date: Dec 2025 --> Jun 2026

1 day ago

Trial primary completion date

KRAS (KRAS proto-oncogene GTPase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSH2 (MutS Homolog 2)

TP53 mutation • PALB2 mutation

Clinical Discovery and Molecular Analysis of Two Novel MSH2 Gene Mutations (p.Ala771Gly and p.Val797Gly) in Saudi Colorectal Cancer Patients: Potential Implications for Tumorigenesis. (PubMed, Health Sci Rep)

This study provides new insights into the genetic basis of CRC and highlights the importance of molecular analysis for detecting novel variants. These novel mutations can be therapeutic targets for novel drugs in precision medicine.

2 days ago

Journal

MSH2 (MutS Homolog 2)

Germline Variants in Bladder and Upper Tract Urothelial Cancers: Prevalence and Clinical Context in a Large Testing Registry. (PubMed, Eur Urol Open Sci)

However, many patients with these variants have urothelial cancer of the bladder only. Broader genetic testing, particularly in those with a suggestive personal or family cancer history, may help identify patients at risk who might otherwise be missed.

5 days ago

Journal • BRCA Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

A novel frameshift variant in MSH2 (p.Q170Rfs4) associated with suspected Lynch syndrome in a Chinese family. (PubMed, Front Med (Lausanne))

In contrast, the NM_000251.3:c.998G>A:p.C333Y missense variant was confirmed as pathogenic. Furthermore, the novel frameshift deletion NM_000251.3:c.507del:p.Q170Rfs*4 was also identified as a pathogenic variant.

7 days ago

Journal

MSH2 (MutS Homolog 2)

Immunohistochemical Expression of MLH1 and MSH2 in Colorectal Carcinoma and Its Correlation With Clinicopathological Parameters. (PubMed, Cureus)

MLH1 loss was closely linked to early-onset CRC and may point to a hereditary risk. Regular testing for MMR proteins can help with diagnosis, screening for Lynch syndrome, and choosing the best treatment.

8 days ago

Journal • IO biomarker

MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

Novel MSH2 frameshift variant (c.579delG) in a patient with suspected Lynch syndrome in China. (PubMed, Front Med (Lausanne))

The c.579delG variation in the MSH2 protein led to truncation from 934 amino acids to 212 amino acids, altered the sequence of the Domain 2 region, and caused the loss of Domains 3, 4, and 5. The two missense variants of the PMS2 gene (PMS2:NM_000535:exon11:c.1847T>C:p.V616A and PMS2:NM_000535:exon14:c.2444C>T:p.S815L) were considered variants of uncertain significance, whereas the novel frameshift variant of the MSH2 gene (MSH2:NM_000251:exon3:c.579delG:p.Q193fs) was considered likely pathogenic.

8 days ago

Journal

MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

Germline pathogenic variant spectrum and prevalence among colorectal cancer patients undergoing multigene panel testing in Kazakhstan. (PubMed, Sci Rep)

Among overall identified PVs, six were novel: APC c.3405T > G, APC c.419_422delAGAG, PMS1 c.1258delC, MLH1 c.1291_1292delAT, NBN c.877delA, and EPCAM c.184 + 1G > A. The observed prevalence of clinically actionable PVs in both patients and their relatives highlights the potential clinical value of multigene panel testing and cascade screening strategies in Kazakhstan.

8 days ago

Journal • BRCA Biomarker

BRCA1 (Breast cancer 1, early onset) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CHEK2 (Checkpoint kinase 2) • EPCAM (Epithelial cell adhesion molecule) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • MUTYH (MutY homolog) • PMS1 (PMS1 protein homolog 1)

Short-course Radiotherapy or Long-course Chemoradiation Followed by mFOLFOXIRI Consolidation Chemotherapy for Organ Preservation in Low Rectal Cancer (clinicaltrials.gov)

P2, N=66, Active, not recruiting, Pei-Rong Ding | Recruiting --> Active, not recruiting | Trial completion date: Dec 2025 --> Dec 2026 | Trial primary completion date: Jun 2025 --> Sep 2025

9 days ago

Enrollment closed • Trial completion date • Trial primary completion date

MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

5-fluorouracil • capecitabine • oxaliplatin • irinotecan

NCI-2017-02296: Testing Olaparib in Patients With Advanced or Metastatic (Cancer That Has Spread) Bladder Cancer and Other Genitourinary Tumors With DNA-Repair Genetic Changes (clinicaltrials.gov)

P2, N=60, Suspended, National Cancer Institute (NCI) | Recruiting --> Suspended

9 days ago

Trial suspension • Tumor mutational burden

TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ABL1 (ABL proto-oncogene 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • STK11 (Serine/threonine kinase 11) • NPM1 (Nucleophosmin 1) • POLE (DNA Polymerase Epsilon) • CCND1 (Cyclin D1) • BAP1 (BRCA1 Associated Protein 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • ATRX (ATRX Chromatin Remodeler) • CHEK2 (Checkpoint kinase 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • BRD4 (Bromodomain Containing 4) • DOT1L (DOT1 Like Histone Lysine Methyltransferase) • FANCE (FA Complementation Group E) • FANCG (FA Complementation Group G) • IKBKE (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Epsilon) • FANCC (FA Complementation Group C)

PALB2 mutation • BRIP1 mutation

FoundationOne® CDx • FoundationOne® Liquid CDx

Lynparza (olaparib)

A Pancreatic Cancer Screening Study in Hereditary High Risk Individuals (clinicaltrials.gov)

P=N/A, N=200, Recruiting, Nuvance Health | Trial completion date: Nov 2026 --> Nov 2030 | Trial primary completion date: Nov 2026 --> Nov 2030

9 days ago

Trial completion date • Trial primary completion date

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)

BRCA1 mutation • ATM mutation • PALB2 mutation

14d

Prevalence and clinicopathologic features of mismatch repair-deficient endometrial cancer in Japanese patients younger than 50 years: a single-center prospective observational study. (PubMed, Int J Clin Oncol)

In this prospective Japanese cohort, approximately one in four patients with EC had dMMR, with clinicopathologic features skewing toward a higher grade. Notably, many dMMR tumors were grade 2-3, suggesting that a substantial proportion of patients may fall outside the conventional criteria for fertility-sparing treatment.

14 days ago

Observational data • Journal • Mismatch repair • dMMR

MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)

MSI-H/dMMR