Annotation Detail
Information
- Associated Genes
- BRCA1
- Associated Variants
-
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 )
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
- The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (per-allele HR, 0.85; 95% CI, 0.76-0.97; P(trend) = 0.011) and ovarian cancer (per-allele HR, 0.69; 95% CI, 0.53-0.89; P(trend) = 0.004) for BRCA1 but not for BRCA2 mutation carriers.
- Pubmed
- 20978178
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2010
Drugs