The UMD-MSH6 mutations database
Mutation c.3423_3434del

     Data for this mutation

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

Sample ID	MSH6	MLH1	MSH2	MUTYH	APC
19_2597025970-00225970-002	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Index case (25970-002) : caecal cancer at the age of 55. Sister : endometrium cancer. Three other cases of colorectal cancers at the ages of 50-60 (second degree relatives)	25/09/15	19 (Rouen)	---
MMR function in tumor cells	MSI / MSH6- (25970-002)	25/09/15	19 (Rouen)	---
MMR function in tumor cells	MSS / MSH6- (25970's sister, endometrium)	25/09/15	19 (Rouen)	---
Segregation analysis	The Index case and her sister carry the variant (25970)	25/09/15	19 (Rouen)	---

Biological significance	Date	Comment
UV	25/09/15	---