Annotation Detail
Information
- Associated Genes
- BRCA2
- 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 ovary
- Source Database
- DisGeNET
- Description
- Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
- Pubmed
- 20978178
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.28
- Year of publication
- 2010
Drugs