The UMD-MSH2 mutations database
Mutation c.1689T>G

     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)

Sample ID	MSH2	MLH1	MSH6	MUTYH	APC
2_02-DDM1054635079213105462	-	-	-	-	-
4_BCR1103260763594	-	-	-	-	-
8_44620_77930_08-921411EG	-	-	-	-	-
8_44620_83274_08-397321EG	-	-	-	-	-
8_44620_83689_08-397321EG	-	-	-	-	-
8_460338645208-571131EGS	-	-	-	-	-
8_460339647108-413241	-	-	-	-	-
8_F491_17041967_08-819101	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Amsterdam II+ (46033)	13/06/14	8 (Nancy)	---
MMR function in tumor cells	MSI-H / MLH1+MSH2-MSH6-PMS2+ (46033-86452)	13/06/14	8 (Nancy)	---
Clinical phenotype	Amsterdam II+. Index case (02-DDM10546-35079) : endometrium cancer at the age of 51. Brother : colon cancer at the age of 54. Brother : pancreatic cancer at the age of 54. Father : colon cancer at the age of 45	1/09/15	2 (Villejuif)	---
MMR function in tumor cells	MSI-H / MSH2?MSH6- (02-DDM10546-35079)	1/09/15	2 (Villejuif)	---

Biological significance	Date	Comment
Causal	21/02/14	---