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
- pancreatic cancer
- Source Database
- CIViC Evidence
- Description
- Study of 1817 PCa cases and 2026 cancer free controls to clarify the association of (MTHFR)c.677C>T (and c.1298A>C ) of pancreatic cancer risk in a population of Han Chinese in Shanghai. Results indicated a lower risk for the heterozygous CT genotype and homozygous TT genotype carriers of (MTHFR)c.677C>T which had a significantly lower risk of developing pancreatic cancer compared with the wild-type CC genotype.
- Evidence Direction
- Supports
- Evidence Level
- B
- Disease
- Pancreatic Cancer
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1756
- Gene URL
- https://civic.genome.wustl.edu/links/genes/3672
- Variant URL
- https://civic.genome.wustl.edu/links/variants/258
- Rating
- 4
- Evidence Type
- Prognostic
- Clinical Significance
- Better Outcome
- Pubmed
- 27819322
Drugs