Annotation Detail

Information
Associated Genes
MRC1
Associated Variants
MRC1 MUTATION
MRC1 MUTATION
Associated Disease
Turcot syndrome (disorder)
Source Database
DisGeNET
Description
Patients who carry either single allele (LS) or double allele (constitutional mismatch repair deficiency syndrome) mutations in the MMR genes benefit from cancer surveillance programs that target both the digestive and extraintestinal cancer risk of these diseases.
Pubmed
24051481
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
6
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00488595369744546
Drugs