Annotation Detail
Information
- Associated Genes
- SH2B3
- Associated Variants
-
SH2B3 p.Trp262Arg (p.W262R)
(
ENST00000341259.7,
ENST00000538307.1 )
SH2B3 p.Trp262Arg (p.W262R) ( ENST00000341259.7, ENST00000538307.1 ) - Associated Disease
- colorectal cancer
- Source Database
- CIViC Evidence
- Description
- A genome wide association study (GWAS) meta-analysis of 13,265 cancer cases (colorectal cancer and endometrial cancer) and 40,245 controls found this variant to be associated with colorectal cancer (OR = 1.10, P = 7.23 × 10−9). The authors speculated that since this polymorphism, a missense variant in the gene SH2B3, is also associated with haematological and autoimmune disorders, it might influence cancer risk through its role in the immune response.
- Variant Origin
- Common Germline
- Variant Origin
- Common Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1744
- Gene URL
- https://civic.genome.wustl.edu/links/genes/7954
- Variant URL
- https://civic.genome.wustl.edu/links/variants/699
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Colorectal Cancer
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Positive
- Pubmed
- 26621817
Drugs