Annotation Detail
Information
- Associated Genes
- BRCA1
- Associated Variants
-
BRCA1 MUTATION
BRCA1 MUTATION
BRCA2 p.Asn372His (p.N372H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA1 p.Lys1183Arg (p.K1183R) ( ENST00000476777.6, ENST00000473961.6, ENST00000494123.6, ENST00000478531.6, ENST00000493795.5, ENST00000586385.5, ENST00000461574.2, ENST00000352993.7, ENST00000493919.6, ENST00000477152.6, ENST00000468300.5, ENST00000591534.5, ENST00000497488.2, ENST00000591849.5, ENST00000470026.6, ENST00000491747.6, ENST00000357654.9, ENST00000484087.6, ENST00000471181.7, ENST00000489037.2, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
PARP1 p.Val762Ala (p.V762A) ( ENST00000366794.10, ENST00000677203.1 )
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 )
BRCA2 p.Asn372His (p.N372H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA1 p.Lys1183Arg (p.K1183R) ( 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 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
PARP1 p.Val762Ala (p.V762A) ( ENST00000366794.10, ENST00000677203.1 )
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 ) - Associated Disease
- Small cell carcinoma of esophagus
- Source Database
- DisGeNET
- Description
- We retrospectively examined whether there was an association between the selected six single nucleotide polymorphisms (SNPs) of five DNA repair genes (PARP1-Val762Ala, XRCC1-Arg194Trp, XRCC1-Arg399Gln, XPC-Lys939Gln, BRCA1-Lys1183Arg, and BRCA2-Asn372His) and the clinical outcome of patients with primary small cell carcinoma of esophagus (SCCE), and it showed that the median progression-free survival (PFS) and the overall survival (OS) were 11.8 versus 9.7 months (P = 0.041) and 17.4 versus 14.8 months (P = 0.032) for patients carrying the variant allele (T/C + C/C) and the wild-type allele (T/T) of PARP1-Val762Ala polymorphism, respectively.
- Pubmed
- 25374063
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs