Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 MUTATION
TP53 MUTATION - Associated Disease
- Neoplastic Syndromes, Hereditary
- Source Database
- DisGeNET
- Description
- Almost all identified high-penetrance gene mutations in those families fulfill the typical phenotypes of hereditary cancer syndromes listed in the National Comprehensive Cancer Network (NCCN) guidelines, except two TP53 and three mismatch repair gene mutations.
- Pubmed
- 25927356
- 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
- 6
- Original source reporting the Gene Disease association
- BeFree,CLINVAR
- DisGENET score for the Gene Disease association
- 0.121900093104562
Drugs