Annotation Detail

Information
Associated Genes
MSH6
Associated Variants
MSH6 MUTATION
MSH6 MUTATION
Associated Disease
MUTYH-Associate Polyposis
Source Database
DisGeNET
Description
This is the first report of two somatic MSH2 mutations leading to an MSI-H tumour lacking MSH2-MSH6 protein expression in a patient with MAP.
Pubmed
24518836
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs