Annotation Detail
Information
- Associated Genes
- CYP1A1
- Associated Variants
-
PGR p.Val660Leu (p.V660L)
(
ENST00000534013.5,
ENST00000263463.9,
ENST00000619228.2,
ENST00000325455.10 )
CYP1A1 p.Ile462Phe (p.I462F) ( ENST00000617691.4, ENST00000395049.8, ENST00000379727.8, ENST00000567032.5, ENST00000395048.6 )
CYP1A1 p.Ile462Val (p.I462V) ( ENST00000617691.4, ENST00000567032.5, ENST00000379727.8, ENST00000395049.8, ENST00000395048.6 )
CYP1A1 p.Ile462Leu (p.I462L) ( ENST00000395048.6, ENST00000617691.4, ENST00000395049.8, ENST00000379727.8, ENST00000567032.5 )
PGR p.Val660Leu (p.V660L) ( ENST00000263463.9, ENST00000325455.10, ENST00000534013.5, ENST00000619228.2 )
CYP1A1 p.Ile462Phe (p.I462F) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 )
CYP1A1 p.Ile462Val (p.I462V) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 )
CYP1A1 p.Ile462Leu (p.I462L) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- The increased risk of breast cancer associated with E+P use was greater among women with at least one rare allele of the CYP1A1 Ile(462)Val, CYP1A1 MspI, CYP1B1 Asn(453)Ser, and PGR Val(660)Leu polymorphisms than among women homozygous for the common allele of these polymorphisms.
- Pubmed
- 18628428
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0238868847430667
- Year of publication
- 2008
Drugs