MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Disease: Lynch Syndrome ×
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 Lynch syndrome is primarily due to germline mutations in one of the DNA MMR genes; mainly hMLH1 or hMSH2 and less frequently hMSH6 and rarely hPMS2. 17942460 2008
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Lynch syndrome is the predisposition to visceral malignancies that are associated with deleterious germline mutations in DNA mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2. 18270343 2008
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Lynch syndrome (hereditary non-polyposis colorectal cancer) is an inherited disease caused by germ-line mutation in mismatch repair genes such as MLH1, MSH2, and MSH6. 19685281 2009
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Lynch syndrome resulting from mutations in MSH6 is considered to be attenuated in comparison to that caused by mutations in MLH1 and MSH2, thus more likely to be under diagnosed. 19851887 2010
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Lynch Syndrome (LS) is a cancer susceptibility syndrome caused mostly by mutations in the mismatch repair genes, hMLH1, hMSH2 and hMSH6. 20640520 2010
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. 23408351 2013
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CTD_human Lynch syndrome is primarily caused by mutations in the MMR genes, mainly MLH1 and MSH2, and less frequently in MSH6, and rarely PMS2, and large genomic rearrangements account for 5-20 % of all mutations. 25701956 2015
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, caused by germline mutations in MisMatch Repair (MMR) genes, particularly in MLH1, MSH2 and MSH6. 26485756 2015
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Lynch syndrome (LS) is an autosomal-dominant inherited disorder mainly caused by a germline mutation in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) and is associated with increased risk for various cancers, particularly colorectal cancer and endometrial cancer (EC). 26848797 2016
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE Lynch Syndrome (LS) is the most common dominantly inherited colorectal cancer (CRC) predisposition and is caused by a heterozygous germline defect in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2. 28528517 2017
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 GeneticVariation disease BEFREE Lynch Syndrome (LS) is associated with germline mutations in one of the mismatch repair (MMR) genes, including MutL homolog 1 (MLH1), MutS homolog 2 (MSH2), MSH6, PMS1 homolog 2, mismatch repair system component (PMS2), MLH3 and MSH3. 29568967 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 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 MSH6 and PMS2 mutations were more frequent than MLH1 and MSH2 mutations among patients who met BRCA1/2 testing criteria but did not meet LS testing criteria ( P = 4.3 × 10<sup>-7</sup>). 28514183 2017
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 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 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 Biomarker disease CTD_human A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease CTD_human A role for MLH3 in hereditary nonpolyposis colorectal cancer. 11586295 2001
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 GeneticVariation disease BEFREE About 24% of the mutations identified in Lynch syndrome are missense substitutions and the frequency of missense variants in MSH6 is the highest amongst these MMR genes. 23621914 2013
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.700 AlteredExpression disease BEFREE All patients with colorectal carcinomas demonstrating isolated loss of MSH6 expression had Lynch syndrome confirmed by germline mutation analysis. 26319271 2015
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