TheUMD-MSH2 mutations database
Large rearrangement: c.2459_2634dup ()

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
19_13048_13048-001_13048-	-	-	-	-	-
19_9497_9497-001_9497-001	-	-	-	-	-
20_20-46714671-01---	-	-	-	-	-
20_20-46714671-03---	-	-	-	-	-
SO_-3200---G03436	-	-	-	-	-
SO_-3200---G03554	c.756G>T (p.Gln252His)	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Index case (20-4671-01) : endometrium cancer at the age of 58, breast cancer at the age of 64 and colorectal cancer at the age of 68. Brother : intestinal cancer at the age of 70. Brother : prostatic cancer at teh age of 58. Sister : myeloma at the age of 51. Mother : ovarian cancer at the age of 45 and intestinal cancer at the age of 60	27/08/15	20 (Clermont-Ferrand)	---

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

Consequences of the mutation at the protein level No data available