Annotation Detail

Information
Associated Genes
MRC1
Associated Variants
MRC1 MUTATION
MRC1 MUTATION
Associated Disease
Hereditary Nonpolyposis Colorectal Cancer
Source Database
DisGeNET
Description
Although heterogenous MSH6 loss provides evidence against germline MSH6 mutation, patients whose tumors exhibit this immunolabeling pattern may have LS due to a defect in a different MMR gene.
Pubmed
26099011
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
11
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.08
Drugs