Annotation Detail
Information
- Associated Genes
- CASP10
- Associated Variants
-
CASP10 p.Val410Ile (p.V410I)
(
ENST00000272879.9,
ENST00000286186.11,
ENST00000313728.12,
ENST00000346817.10,
ENST00000448480.1,
ENST00000696199.1 )
CASP8 p.Asp344His (p.D344H) ( ENST00000264275.9, ENST00000323492.11, ENST00000358485.8, ENST00000392263.6, ENST00000413726.6, ENST00000432109.6, ENST00000440732.6, ENST00000444430.3, ENST00000450491.6, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 )
CASP10 p.Val410Ile (p.V410I) ( ENST00000272879.9, ENST00000286186.11, ENST00000313728.12, ENST00000346817.10, ENST00000448480.1, ENST00000696199.1 )
CASP8 p.Asp344His (p.D344H) ( ENST00000264275.9, ENST00000323492.11, ENST00000358485.8, ENST00000392263.6, ENST00000413726.6, ENST00000432109.6, ENST00000440732.6, ENST00000444430.3, ENST00000450491.6, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both CASP10 V410I and CASP8 D302H, resulting in a significant association between the number of the variant alleles I410 and H302 and a highly decreased familial BC risk (OR = 0.35, P(trend) = 0.007), pointing to the interaction between the CASP10 and CASP8 polymorphisms in breast carcinogenesis.
- Pubmed
- 16251207
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00581983144552528
- Year of publication
- 2006
Drugs