BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: Hereditary Breast and Ovarian Cancer Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR This population is highly admixed with a different spectrum of genetic susceptibility, with the Galician founder mutation BRCA1 p.R71G accounting for 50% of all identified mutations in high-risk HBOC patients. 27081505 2014
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852 2013
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081 2013
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR Functional differences among BRCA1 missense mutations in the control of centrosome duplication. 21725363 2012
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045 2012
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes. 21735045 2012
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 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: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. 20103620 2010
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. 20215541 2010
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		0.710 GeneticVariation BEFREE We demonstrate that disruption of alternative transcript ratios is the mechanism causing hereditary breast/ovarian cancer associated with the BRCA1 R71G mutation. 19123044 2009
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin. 19123044 2009
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. 18159056 2007
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility. 16403807 2006
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula. 12014998 2002
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. 11320250 2001
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. 11385711 2001
dbSNP: rs80357382
rs80357382
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.710 CausalMutation CLINVAR BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families. 10508480 1999