Annotation Detail
Information
- Associated Genes
- BRCA1
- Associated Variants
-
BRCA1 p.Gln1200Ter (p.Q1200*)
(
ENST00000489037.2,
ENST00000476777.6,
ENST00000700182.1,
ENST00000491747.6,
ENST00000470026.6,
ENST00000618469.2,
ENST00000586385.5,
ENST00000644379.2,
ENST00000713676.1,
ENST00000591849.5,
ENST00000634433.2,
ENST00000493919.6,
ENST00000352993.7,
ENST00000461574.2,
ENST00000357654.9,
ENST00000497488.2,
ENST00000471181.7,
ENST00000591534.5,
ENST00000493795.5,
ENST00000478531.6,
ENST00000484087.6,
ENST00000494123.6,
ENST00000477152.6,
ENST00000468300.5,
ENST00000644555.2,
ENST00000473961.6 )
BRCA1 p.Gln1200Ter (p.Q1200*) ( ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000491747.6, ENST00000493795.5, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000586385.5, ENST00000591534.5, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 ) - Associated Disease
- Carcinogenesis
- Source Database
- DisGeNET
- Description
- To investigate the potential consequences of somatic heterozygosity for a BRCA1 mutation demonstrably associated with breast carcinogenesis on background somatic mutational burden, we applied the two standard assays of in vivo human somatic mutation to blood samples from a manifesting carrier of the Q1200X mutation in BRCA1 whose tumor was uniquely ascertained through an MRI screening study.
- Pubmed
- 18158561
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.045602234509491
- Year of publication
- 2007
Drugs