Annotation Detail
Information
- Associated Genes
- MAP2K1
- Associated Variants
-
MAP2K1 p.Lys57Asn (p.K57N)
(
ENST00000686347.1,
ENST00000693150.1,
ENST00000307102.10,
ENST00000692683.1,
ENST00000685763.1,
ENST00000685172.1,
ENST00000691576.1,
ENST00000691937.1,
ENST00000689951.1 )
MAP2K1 p.Lys57Asn (p.K57N) ( ENST00000307102.10, ENST00000685172.1, ENST00000685763.1, ENST00000686347.1, ENST00000689951.1, ENST00000691576.1, ENST00000691937.1, ENST00000692683.1, ENST00000693150.1 ) - Associated Disease
- lung adenocarcinoma
- Source Database
- CIViC Evidence
- Description
- This report identified 36 MEK1-mutated cases among 6,024 Lung adecarcinomas. The majority of patients were smokers (97%). There was no association with age, sex, race, or stage. The most common mutations were K57N (64%, 23/36) followed by Q56P (19%, 7/36), all mutually exclusive with other driver mutations in the targeted panel. MEK1 mutations define a distinct subset of lung cancers (∼1%) with potential sensitivity to MEK inhibitors. Mutations are predominantly transversions, in keeping with a strong association with smoking.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2935
- Gene URL
- https://civic.genome.wustl.edu/links/genes/31
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1272
- Rating
- 3
- Evidence Type
- Diagnostic
- Disease
- Lung Adenocarcinoma
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Positive
- Pubmed
- 25351745
Drugs