MSH6
- Known as:
- MSH6
- Catalog number:
- AM11174PU-N
- Product Quantity:
- 1.0 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
- Multilocus inherited neoplasia alleles syndrome (MINAS) is a rare but increasingly recognized entity characterized by germline pathogenic variants in multiple cancer susceptibility genes, leading to overlapping hereditary cancer syndromes. The growing use of next-generation sequencing (NGS) and comprehensive genetic testing has increased MINAS detection, with an estimated 1.37% prevalence among hereditary cancer patients. Genes commonly implicated include BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, APC, TP53, PTEN, and STK11, conferring a higher risk of multiple primary malignancies. We describe a case of a postmenopausal woman initially diagnosed with Stage IIIB luminal A breast carcinoma, who developed contralateral breast recurrence with supraclavicular and pulmonary metastases, responding completely to ribociclib and letrozole. Given her early-onset breast cancer, genetic testing of her hereditary cancer risk revealed BRCA2 and MLH1 germline variants, confirming MINAS syndrome. Subsequent evaluation identified colonic adenocarcinoma (Stage IIIB, MLH1/PMS2 deficiency), leading to total colectomy, hysterectomy, and bilateral salpingo-oophorectomy. Surveillance was proposed for colon cancer, while ribociclib and letrozole were continued for breast cancer. This case highlights the clinical complexity of MINAS syndrome. The comprehensive genomic profiling is critical for guiding targeted therapy, immunotherapy, and surgical decision-making, optimizing outcomes in this high-risk population. - Source: PubMed
Publication date: 2026/04/19
Avila-Rodriguez VanezaRuiz-Patiño AlejandroBonilla-Gonzalez CarlosAcevedo María Eugenia ManriqueLopez PatriciaDiaz Magda Jimena VargasRubio DiegoGarzon María Alejandra BravoFranco SandraMantilla William - Lynch syndrome (LS) is one of the most widely recognized cancer susceptibility syndromes and is caused by germline mutations of the mismatch repair (MMR) genes , , , and . One of the less commonly known mechanisms is the deletion of the 3' end of the Epithelial Cell Adhesion Molecule () gene, which is closely situated to the gene promoter. Such deletion causes hypermethylation of the gene promoter and leads to its inactivation. This case reports a young adult diagnosed with two metachronous primary tumors due to a germline exon 9 deletion and subsequent gene inactivation, shedding light on one of the most underrecognised pathways of microsatellite instability. - Source: PubMed
Publication date: 2026/03/19
Kalfoutzou AretiRapti CleopatraAlmpanis ZannisBagiokou EleftheriaKalakos NikolaosLagopoulou VasilikiKolintzikis VasileiosOikonomakis AristeidisChaleplidis NikolaosRamfidis Vasileios - To characterize the clinical, histopathologic, and molecular-genetic characteristics of Lynch syndrome (LS)-associated gastrointestinal disease in the pediatric population. - Source: PubMed
Publication date: 2026/04/20
Phen ClaudiaRojas IsabelFriesen Hunter JSwaggart KeriFlahive Colleen BMacFarland Suzanne PAttard Thomas - 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