BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357629
rs80357629
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GT 0.700 CausalMutation CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627 2015
dbSNP: rs80357629
rs80357629
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GT 0.700 CausalMutation CLINVAR Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. 24504028 2014
dbSNP: rs80357629
rs80357629
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GT 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584 2010
dbSNP: rs80357629
rs80357629
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GT 0.700 CausalMutation CLINVAR Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. 18992264 2009
dbSNP: rs80357629
rs80357629
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GT 0.700 CausalMutation CLINVAR Direct interaction between BRCA1 and the estrogen receptor regulates vascular endothelial growth factor (VEGF) transcription and secretion in breast cancer cells. 12400015 2002
dbSNP: rs80357629
rs80357629
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GT 0.700 CausalMutation CLINVAR BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations. 11739404 2001
dbSNP: rs80357629
rs80357629
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GT 0.700 CausalMutation CLINVAR Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. 10811118 2000
dbSNP: rs80357629
rs80357629
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GT 0.700 CausalMutation CLINVAR The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression. 9738006 1998
dbSNP: rs80357629
rs80357629
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GT 0.700 CausalMutation CLINVAR Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. 7894493 1994