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: C3896578
Disease: Familial Colorectal Cancer Type X
Familial Colorectal Cancer Type X
0.010 GeneticVariation disease BEFREE Targeted sequencing of 36 known or putative CRC susceptibility genes was conducted for 1231 CRC cases from five subsets: (1) Familial Colorectal Cancer Type X (<i>n</i> = 153); (2) CRC unselected by tumor immunohistochemical or microsatellite stability testing (<i>n</i> = 548); (3) young onset (age <50 years) (<i>n</i> = 333); (4) proficient mismatch repair (MMR) in cases diagnosed at ≥50 years (<i>n</i> = 68); and (5) deficient MMR CRCs with no germline mutations in MLH1, MSH2, MSH6, or PMS2 (<i>n</i> = 129). 28944238 2017