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
rectum cancer
Source Database
CIViC Evidence
Description
Patients with the wild type (C/C) MTHFR gene are 2.91 times (95% CI: [1.23, 6.89]) more likely to have a positive response to neoadjuvant CRT and 3.25 times more likely not to experience relapse (95% CI: [1.37, 7.72]) than patients with the heterozygous MTHFR [rs1801133 (C>T)] mutation or the homzygous (T/T).
Variant Origin
Common Germline
Variant Origin
Common Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1757
Gene URL
https://civic.genome.wustl.edu/links/genes/3672
Variant URL
https://civic.genome.wustl.edu/links/variants/258
Rating
4
Evidence Type
Predictive
Disease
Rectum Cancer
Evidence Direction
Supports
Drug
Fluorouracil
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
26693073
Drugs
Drug NameSensitivitySupported
FluorouracilSensitivitytrue