Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients. 27553291

2016
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling. 23704984

2013
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Mechanisms of BRCA1 tumor suppression. 22843421

2012
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907

2011
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Altered gene expression in morphologically normal epithelial cells from heterozygous carriers of BRCA1 or BRCA2 mutations. 20051372

2010
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection. 19949876

2010
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 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: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Non-founder BRCA1 mutations in Russian breast cancer patients. 20727672

2010
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators. 18375895

2008
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer. 18465347

2008
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Founder mutations in BRCA1 and BRCA2 genes. 17591843

2007
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. 17688236

2007
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 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: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. 16998791

2006
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families. 16528604

2006
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR BRCA1 interacts with poly(A)-binding protein: implication of BRCA1 in translation regulation. 16782705

2006
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. 16644204

2006
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families. 12960223

2003
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. 12393792

2002
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. 11802209

2002
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR BRCA1 interacts with acetyl-CoA carboxylase through its tandem of BRCT domains. 12360400

2002
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations. 11739404

2001
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. 11157798

2001
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes. 10486320

1999
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. 9667259

1998