Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374435098
rs374435098
BRCA1 ; RPL21P4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1567823254
rs1567823254
BRCA1 ; NBR2
TTA 0.700 CausalMutation CLINVAR A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. 16683254

2006
dbSNP: rs730881457
rs730881457
BRCA1 ; NBR2
TA 0.700 CausalMutation CLINVAR

dbSNP: rs80357134
rs80357134
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR TBX2 is preferentially amplified in BRCA1- and BRCA2-related breast tumors. 12097257

2002
dbSNP: rs80357134
rs80357134
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR BRCA1/BRCA2 mutation status and analysis of cancer family history in participants of the Royal Marsden Hospital tamoxifen chemoprevention trial. 16777318

2007
dbSNP: rs80357134
rs80357134
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers. 12491499

2003
dbSNP: rs80357134
rs80357134
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. 26187060

2016
dbSNP: rs80357134
rs80357134
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. 16644204

2006
dbSNP: rs80357134
rs80357134
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Low prevalence of (pre) malignant lesions in the breast and high prevalence in the ovary and Fallopian tube in women at hereditary high risk of breast and ovarian cancer. 16615107

2006
dbSNP: rs80357134
rs80357134
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. 12672316

2003
dbSNP: rs80357287
rs80357287
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357410
rs80357410
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition. 15385441

2004
dbSNP: rs80357410
rs80357410
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. 20103620

2010
dbSNP: rs80357410
rs80357410
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility. 16403807

2006
dbSNP: rs80357410
rs80357410
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852

2013
dbSNP: rs80357410
rs80357410
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Functional differences among BRCA1 missense mutations in the control of centrosome duplication. 21725363

2012
dbSNP: rs80357410
rs80357410
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. 25823446

2015
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. 27741520

2016
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Characterization of BRCA1 ring finger variants of uncertain significance. 19543972

2010
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report. 27225819

2016
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441

2015
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. 25823446

2015
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. 9609997

1998
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. 9145677

1997
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. 21922593

2011