MSH6
- Known as:
- MSH6
- Catalog number:
- AM11174PU-S
- Product Quantity:
- 0.1 ml
- Category:
- -
- Supplier:
- ACR
- Gene target:
- MSH6
Related genes to: MSH6
- Gene:
- MSH6 NIH gene
- Name:
- mutS homolog 6
- Previous symbol:
- GTBP
- Synonyms:
- -
- Chromosome:
- 2p16.3
- Locus Type:
- gene with protein product
- Date approved:
- 1995-08-29
- Date modifiied:
- 2019-04-23
Related products to: MSH6
Related articles to: MSH6
- The prevalence and clinical history of germline variants in bladder cancer and upper tract urothelial cancer (UTUC) remains incompletely defined, particularly regarding mismatch repair (MMR) and homologous recombination repair (HRR) variants. This study aims to evaluate the prevalence of germline variants in patients with bladder cancer and/or UTUC referred for germline testing, and to report the personal and family cancer histories of patients with MMR (Lynch syndrome) and HRR variants. - Source: PubMed
Publication date: 2026/02/23
Monda Steven MOh EugeneLewicki Patrick JKaffenberger Samuel DElse TobiasReichert Zachery RTsung IreneGhani Khurshid RNguyen Charles BHumble RobSchiewer Matthew JFinch RobertSalami SimpaStoffel Elena MMorgan Todd MChandrasekar ThenappanSinghal Udit - Precision therapies have improved outcomes in pancreatic ductal adenocarcinoma (PDAC) and highlight the utility of germline genetic testing (GGT) in clinical decision making. Here, we investigate the association of GGT of individuals diagnosed with PDAC over time to identify changes in testing patterns and the relationship of testing with clinicopathologic parameters and overall survival (OS). - Source: PubMed
Publication date: 2026/04/16
O'Connor Thomas NSchultz EmilyHorowitz MichaelAlexander Margaret HFountzilas ChristosCherkassky LeonidOnel KenanKnudsen Erik SWitkiewicz Agnieszka K - Introduction Colorectal carcinoma (CRC) is a major health problem worldwide and is one of the top causes of cancer deaths. Defects in DNA mismatch repair (MMR) are responsible for a few cases of CRC, and the defect mainly involves MLH1 and MSH2, which leads to microsatellite instability (MSI). Finding MMR deficiency is important for predicting outcomes, screening for hereditary conditions like Lynch syndrome, and choosing treatments such as immune checkpoint inhibitors. However, there is limited data on MMR protein expression and its clinical associations in Indian patients. The objective of this study was to evaluate the immunohistochemical expression of mismatch proteins MLH1 and MSH2 in colorectal carcinoma, and to correlate MLH1 and MSH2 expression with clinicopathological parameters such as age, gender, tumor site, histological type of tumor, and histological grade. Materials and methods This retrospective cross-sectional study included 45 histologically confirmed cases of CRC. Immunohistochemical staining for MLH1 and MSH2 was performed on formalin-fixed, paraffin-embedded tissue sections. Complete absence of nuclear staining in tumor cells, with intact internal controls, was interpreted as loss of expression, indicating MMR deficiency and MSI. Retained expression of both proteins was interpreted as MMR-proficient based on MLH1 and MSH2 expression, although complete assessment of microsatellite instability ideally requires evaluation of all four mismatch repair proteins (MLH1, MSH2, MSH6, and PMS2). Statistical analysis was performed to determine correlations with clinicopathological variables such as age, gender, tumor site, histological type, and histological grade. Results The mean patient age was 56 ± 14 years. The majority of patients (n=27, 60%) were female. The colon was the most common tumor site (n=25, 55.6%), and conventional adenocarcinoma was the main type (n=44, 97.8%). Most tumors were moderately differentiated adenocarcinomas, comprising 35 (77.8%) patients. Overall, 21 patients (46.7%) were classified as MSI (MMR-deficient), while 24 (53.3%) were MSS (MMR-proficient). MLH1 loss occurred in 19 (42.2%) patients, and MSH2 loss in nine (20%). MLH1 loss was significantly linked to patients under 50 years of age (p = 0.009). MSH2 expression did not show a significant correlation with clinical or pathological factors. Conclusion Many CRC cases in this study showed loss of MLH1 and/or MSH2, which suggests MMR deficiency and MSI. 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. - Source: PubMed
Publication date: 2026/03/13
Pragnya ChokkapuPatil Vijayalaxmi - Colorectal cancer (CRC) is a type of malignancy with a hereditary component. In Kazakhstan, the spectrum of germline pathogenic variants (PV) among individuals with CRC remains limited. In this study, multigene panel testing was performed on a Kazakhstani cohort of CRC patients and their relatives to better understand genetic risk factors. The study included 155 CRC patients and 92 healthy relatives. Whole coding regions (> 1700 exons) and flanking noncoding sequences of 94 cancer-associated genes were analyzed using the Illumina TruSight Cancer NGS panel on blood-derived DNA. Results showed that 30 patients (19.4%) carried 31 PVs. Overall, 34.2% of patients had a family history of cancer, including 9.7% who had a family history of CRC. The most frequent germline PVs were in CHEK2 (22.58%) and APC (12.91%), followed by MLH1 (6.46%), MSH2 (6.46%), MSH6 (6.46%), MUTYH (6.46%), and BRCA1 (6.46%). Missense (35.5%) and frameshift (32.3%) variants predominated. A high number of PVs was found in individuals aged 18-44 years. 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. - Source: PubMed
Publication date: 2026/04/14
Baltayev NurlanAbdikerim SaltanatAfonin GeorgiyRasulov ArsenZhunussova AigulKaidarova DilyaraZhunussova Gulnur - Universal tumor testing is increasingly recommended for Lynch syndrome (LS). However, data involving younger Japanese patients are still limited. This study aimed to prospectively evaluate the prevalence and clinicopathologic profile of DNA mismatch repair (MMR)-deficient (dMMR) endometrial cancers (EC) in patients aged under 50 years, and characterize immunohistochemical (IHC) loss patterns and genetic testing results. - Source: PubMed
Publication date: 2026/04/09
Nomura HidetakaAbe AkikoFusegi AtsushiYamaguchi ShogoKon TsubasaFunada EitaroKuratomi YuriWatanabe ToshiakiKamata MayumiOzawa RisakoNishino ShogoKanno MotokoNetsu SachihoAoki YoichiOmi MakikoOkamoto SanshiroYunokawa MayuUeki ArisaTonooka AkikoKanao Hiroyuki