Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
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 )
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 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequency ranging from 42 to 100%, with similar rate for each SNP in mutated and nonmutated families with the only exception of BRCA1 K1183R significantly more frequent in mutated families (P = 0.004); conversely, this SNP and BRCA2 N372H, were more frequently present in breast cancer relatives belonging to families in which pathological BRCA mutations were not present.
- Pubmed
- 20352487
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2011
Drugs