rs41293465, BRCA1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR BRCA1 interacts with acetyl-CoA carboxylase through its tandem of BRCT domains. 12360400 2002
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Mechanisms of BRCA1 tumor suppression. 22843421 2012
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. 8554067 1996
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Founder mutations in BRCA1 and BRCA2 genes. 17591843 2007
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Founder mutations in BRCA1 and BRCA2 genes. 17591843 2007
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR BRCA1 interacts with acetyl-CoA carboxylase through its tandem of BRCT domains. 12360400 2002
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Non-founder BRCA1 mutations in Russian breast cancer patients. 20727672 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations. 26028024 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations. 11739404 2001
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families. 12960223 2003
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics. 12601471 2003
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
Hereditary Breast and Ovarian Cancer Syndrome
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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. 16644204 2006
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients. 27553291 2016
Hereditary Breast and Ovarian Cancer Syndrome
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. 25682074 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. 16998791 2006
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. 8554067 1996
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. 17688236 2007
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. 16998791 2006
Hereditary Breast and Ovarian Cancer Syndrome
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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling. 23704984 2013