Annotation Detail
Information
- Associated Genes
- TWNK
- Associated Variants
-
BRCA2 p.Tyr1655Ter (p.Y1655*)
(
ENST00000544455.6,
ENST00000380152.8,
ENST00000713678.1,
ENST00000530893.7,
ENST00000700202.2,
ENST00000713680.1 )
BRCA2 p.Tyr1655Ter (p.Y1655*) ( ENST00000530893.7, ENST00000544455.6, ENST00000380152.8, ENST00000713678.1, ENST00000713680.1, ENST00000700202.2 )
BRCA2 p.Tyr1655Ter (p.Y1655*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr1655Ter (p.Y1655*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- Malignant neoplasm of ovary
- Source Database
- DisGeNET
- Description
- Three ovarian cancer cell lines (PEO1, PEO4, and PEO6) were derived from a BRCA2 mutation [5193C>G (Y1655X)] carrier with ovarian carcinoma with acquired cisplatin resistance and a secondary BRCA2 mutation [5193C>T (Y1655Y)] that canceled the inherited mutation.
- Pubmed
- 19654294
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
- Year of publication
- 2009
Drugs