Annotation Detail
Information
- Associated Genes
- TGFB1
- Associated Variants
-
TGFB1 p.Pro10Leu (p.P10L)
(
ENST00000221930.6,
ENST00000600196.2,
ENST00000677934.1,
ENST00000539627.5 )
TGFB1 p.Pro10Arg (p.P10R) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
TGFB1 p.Pro10Leu (p.P10L) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
TGFB1 p.Pro10Arg (p.P10R) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 ) - Associated Disease
- Benign neoplasm of breast
- Source Database
- DisGeNET
- Description
- In view of the essential role of transforming growth factorβ1 (TGFB1) on both inhibiting the development of early benign breast tumors as well as promoting tumor invasion, the association of TGFB1 L10P polymorphism and breast cancer risk has been widely reported, but results of previous studies were somewhat contradictory and underpowered.
- Pubmed
- 20349130
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2010
Drugs