Annotation Detail
Information
- Associated Genes
- CYP1A1
- Associated Variants
-
CYP1B1 p.Val432= (p.V432=)
(
ENST00000490576.2,
ENST00000494864.1,
ENST00000610745.5,
ENST00000614273.1,
ENST00000714520.1 )
AHR p.Arg554Lys (p.R554K) ( ENST00000242057.9, ENST00000642825.1 )
CYP1B1 p.Leu432Val (p.L432V) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
AHR p.Arg554Lys (p.R554K) ( ENST00000242057.9, ENST00000642825.1 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- We investigated the associations between breast cancer and sequence variants in several genes in the estradiol/estrone metabolism pathway (CYP1A1*2A, CYP1A2*1F, CYP1B1 Leu432Val, CYP3A4*1B, COMT Val158Met, SULT1A1Arg213His) as well as the Arg554Lys variant in AHR (a transcription factor for CYP1A1, CYP1A2, and CYP1B1) in a case-control study of 1,339 breast cancer cases and 1,370 controls nested in the Multiethnic Cohort Study.
- Pubmed
- 16103451
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.103886884743067
- Year of publication
- 2005
Drugs