Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357382
rs80357382
BRCA1
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
BRCA1
C 0.710 CausalMutation CLINVAR Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes. 21735045

2012
dbSNP: rs80357064
rs80357064
BRCA1
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
BRCA1
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
BRCA1
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
BRCA1
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: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. 19370767

2009
dbSNP: rs80357382
rs80357382
BRCA1
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
BRCA1
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: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. 17851763

2008
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair. 18066063

2008
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. 18489799

2008
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. 19016756

2008
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. 18159056

2007
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. 16683254

2006
dbSNP: rs80357382
rs80357382
BRCA1
C 0.710 CausalMutation CLINVAR Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility. 16403807

2006
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. 16267036

2005
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization. 16140926

2005
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. 16267036

2005
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families. 15168169

2004
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model. 12915465

2003
dbSNP: rs80357064
rs80357064
BRCA1
C 0.710 CausalMutation CLINVAR Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex. 12732733

2003
dbSNP: rs80357382
rs80357382
BRCA1
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: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. 11149425

2001
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Molecular profiles of BRCA1-mutated and matched sporadic breast tumours: relation with clinico-pathological features. 11506493

2001