Annotation Detail
Information
- Associated Genes
- PARP1
- Associated Variants
-
PARP1 MUTATION
PARP1 MUTATION
MGMT p.Leu84Phe (p.L84F) ( ENST00000306010.8, ENST00000651593.1 )
PARP1 p.Lys940Arg (p.K940R) ( ENST00000677203.1, ENST00000366794.10 )
PARP1 p.Lys940Thr (p.K940T) ( ENST00000677203.1, ENST00000366794.10 )
MGMT p.Leu84Phe (p.L84F) ( ENST00000306010.8, ENST00000651593.1 )
PARP1 p.Lys940Arg (p.K940R) ( ENST00000366794.10, ENST00000677203.1 )
PARP1 p.Lys940Thr (p.K940T) ( ENST00000366794.10, ENST00000677203.1 ) - Associated Disease
- colon carcinoma
- Source Database
- DisGeNET
- Description
- We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027).
- Pubmed
- 18006925
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00325730246496364
- Year of publication
- 2007
Drugs