Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR p.Ala263Val (p.A263V) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
Associated Disease
stomach cancer
Source Database
CIViC Evidence
Description
The MTHFR C667T variant was associated with significantly lower relapse-free survival and overall survival in stomach cancer patients treated with 5-Fluorouracil-based therapies. 116 Chinese patients with histologically confirmed gastric cancer were used in this study, and all patients had radical surgery before treatment.
Variant Origin
germline
Variant Origin
Rare Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/669
Gene URL
https://civic.genome.wustl.edu/links/genes/3672
Variant URL
https://civic.genome.wustl.edu/links/variants/258
Rating
3
Evidence Type
Predictive
Disease
Stomach Cancer
Evidence Direction
Supports
Drug
Fluorouracil
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
18704422
Drugs
Drug NameSensitivitySupported
FluorouracilSensitivitytrue