MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE Overall, 17/23 (74%) subjects carried LS-associated gene variants (MLH1: 10; MSH2: 4; MSH6: 2; PMS2: 1), with 2 alleles (MLH1 c.677G > T and MSH2 с.1906G > C) detected twice. 31491536 2020
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 Biomarker disease BEFREE We describe a family with MSH6-dependent Lynch syndrome and familial pancreatic cancer and other tumours (gastric and endometrial), in the absence of colorectal neoplasia. 31851094 2020
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE We present a case that developed metastatic CRC, which we diagnosed as LS in association with a very rarely seen PMS2 and MSH6 germline mutation. 31845022 2020
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE A novel heterozygous large deletion of MSH6 gene in a Chinese family with Lynch syndrome. 30974197 2019
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE Second, when we focused on Lynch syndrome (LS) with additional selected patients, 45 were identified to carry pathogenic mutations in MMR genes, with a higher frequency found in MSH2 and MSH6. 31054147 2019
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE Lynch syndrome (LS) is an autosomal dominant inherited disorder that is associated with an increased predisposition to certain cancers caused by loss-of-function mutations in one of four DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2). 30653781 2019
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE The cases demonstrated diffuse MLH1 loss associated with BRAF mutations and MLH1 promoter hypermethylation in keeping with sporadic dMMR, with presumed additional double hit mutations in MSH2+/-MSH6 rather than underlying LS. 30723092 2019
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE We have previously shown that even a partial expression decrease in MLH1, MSH2, or MSH6 suggests that heterozygous LS mutation carriers have MMR malfunction in constitutive tissues. 30946512 2019
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 Biomarker disease BEFREE Thirteen variants were revealed in MLH1, MSH2, and MSH6, all genes previously linked to LS. 31297992 2019
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE No CRC was found during follow-up of patients with Lynch syndrome carrying pathogenic variants in MSH6; advanced neoplasia developed over shorter follow-up time periods in patients with pathogenic variants in MLH1 or MSH2. 31470178 2019
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE By confirming that the tumor was not dMMR and not MSI-H, it was concluded that his oral pharynx cancer was sporadic, rather than LS-related, and other family members carrying the mutated MSH6 are unlikely to be at above-average risk for the development of oral cancers, as a result of the LS. 31445773 2019
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE A 56-year-old female with LS due to MSH2 and MSH6 mutations presented with panhypopituitarism and a sellar mass. 31491579 2019
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 Biomarker disease BEFREE Furthermore, isolated loss of MSH6 or PMS2 protein predicts LS. 30877237 2019
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 PosttranslationalModification disease BEFREE PMS2 and MSH6 protein expression in metastatic and matched primary tumor was assessed using clinically validated immunohistochemistry methods for Lynch syndrome screening. 30340772 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 Biomarker disease BEFREE Colon tissues were collected from patients with advanced adenomas, ≥4 nonadvanced adenomas, or CRC, and analyzed by immunohistochemistry to identify patients with loss of mismatch repair (MMR) proteins (MLH1, MSH2, MSH6, or PMS2): a marker of Lynch syndrome. 30063919 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE Prediction of MLH1, MSH2, and MSH6 (PREMM<sub>1,2,6</sub>) is a web-based tool that analyzes individuals' personal/family histories of cancer to quantify their likelihood of carrying a germline mutation associated with Lynch syndrome. 28668538 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial cancer, although extracolonic cancers have been described within the Lynch tumor spectrum. 30161022 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 AlteredExpression disease BEFREE However, MSH1, MSH2, MSH6 and PSM2, proteins that are associated with Lynch Syndrome, were expressed at normal levels. 29849799 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. 29345684 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE Germline variants in mismatch repair genes MLH1, MSH2 (EPCAM), MSH6, or PMS2 cause Lynch syndrome. 29758216 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE Lynch syndrome (LS) is associated with germ-line mutations in the DNA mismatch repair (MMR) genes, mainly MLH1, MSH2, MSH6, and PMS2. 29405992 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 AlteredExpression disease BEFREE We report the case of a woman with an early-onset endometrial adenocarcinoma who was suspected to be affected with Lynch syndrome based on tumor dMMR phenotype (MSI associated with loss of expression of MSH2 and MSH6 proteins). 28819700 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 Biomarker disease BEFREE An expression pattern revealing absent MSH2 and intact MSH6 is not expected, but could result in failed Lynch syndrome detection. 29967423 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 GeneticVariation disease BEFREE In conclusion, in this cohort of 24 consecutive Arab Bedouins with CRC, one patient was found to harbor a constitutional mismatch repair deficiency, one patient had LS with MSH6 mutation, and two patients had unresolved loss of MLH1/PMS2 proteins/BRAF <sup>wild type</sup> phenotype. 28608265 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.700 Biomarker disease BEFREE Using MSI burden and bi-allelic alteration status, we reclassify two variants of unknown significance in MSH6 as potentially pathogenic for Lynch syndrome. 30217226 2018