Disease: Malignant neoplasm of endometrium ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780062
rs587780062
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0007103
Disease:
Malignant neoplasm of endometrium 		0.010 GeneticVariation BEFREE Here, we describe a patient with a clinical diagnosis of CMMRD based on colorectal polyposis and young-onset endometrial cancer who was identified to have two alterations in trans in PMS2: one known pathogenic mutation (c.1831insA; p.Ile611Asnfs*2) and one novel variant of uncertain significance (c.505C>G; p.Arg169Glu), a missense alteration. 27017610 2016