Endometrial Cancer
Gene: MSH2
ClinGen definitive. Endometrial cancers reported in condition.
Sources: Expert list, Expert ReviewCreated: 18 Sep 2024, 11:19 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Endometrial cancer, MONDO:0011962; Lynch syndrome 1, MONDO:0007356; Mismatch repair cancer syndrome 2, MONDO:0030840; Lynch syndrome 1, MIM#120435; Mismatch repair cancer syndrome 2, MIM#619096
Gene: msh2 has been classified as Green List (High Evidence).
Gene: msh2 has been classified as Green List (High Evidence).
gene: MSH2 was added gene: MSH2 was added to Endometrial Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: MSH2 were set to Endometrial cancer, MONDO:0011962; Lynch syndrome 1, MONDO:0007356; Mismatch repair cancer syndrome 2, MONDO:0030840; Lynch syndrome 1, MIM#120435; Mismatch repair cancer syndrome 2, MIM#619096 Review for gene: MSH2 was set to GREEN