Annotation Detail

Information
Associated Genes
MDM2
Associated Variants
MDM2 c.14+309T>G ( ENST00000393412.7, ENST00000258148.11, ENST00000258149.11 )
MDM2 c.14+309T>G ( ENST00000258148.11, ENST00000258149.11, ENST00000393412.7 )
Associated Disease
head and neck cancer
Source Database
CIViC Evidence
Description
66 HNSCC patients treated with chemoradiation were assessed for survival after a follow-up time of 10 years. Median OS was significantly shorter in patients with MDM2 SNP309 GG or GT genotypes compared with the TT genotype (p = 0.002).
Variant Origin
Common Germline
Variant Origin
Common Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1169
Gene URL
https://civic.genome.wustl.edu/links/genes/3465
Variant URL
https://civic.genome.wustl.edu/links/variants/495
Rating
2
Evidence Type
Prognostic
Disease
Head And Neck Cancer
Evidence Direction
Supports
Evidence Level
B
Clinical Significance
Poor Outcome
Pubmed
26916894
Drugs