Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 MUTATION
TP53 MUTATION
Associated Disease
Li-fraumeni-like syndrome
Source Database
DisGeNET
Description
She presented with a clinical diagnosis of Li-Fraumeni-like syndrome (LFL), showing papillary thyroid carcinoma and fibrosarcoma of the left flank, and had no TP53 germline mutations.
Pubmed
25935441
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
5
Original source reporting the Gene Disease association
BeFree,CLINVAR
DisGENET score for the Gene Disease association
0.125700279313686
Drugs