TheUMD-MSH2 mutations database
Large rearrangement: c.793_942del (deletion from exon 5 to 5)

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_14469_14469-001_14469-	-	-	-	-	-
19_8474_8474-001_8474-001	-	-	-	-	-
20_20-30093009-08---	-	-	-	-	-
SO_-2526---G02041	-	-	-	-	-
SO_-2526---G03192	-	-	-	-	-
SO_-2526---G04406	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Amsterdam II+. Index case (20-3009-08) : colorectal cancers at the ages of 36 and 46. Sister : endometrium cancer at the age of 42. Mother : endometrium cancer at the age of 68. Brother : sebaceous adenomas and polyps at the age of 45	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