rs41293465, BRCA1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. 16683254 2006
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation 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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. 16998791 2006
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Identification of a recurrent BRCA1 mutation in German breast-cancer and/or ovarian-cancer families. 11260866 2001
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene. 9760198 1998
Hereditary Breast and Ovarian Cancer Syndrome
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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource. 18446624 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR "Mutational spectrum in breast cancer associated 29021639 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. 12393792 2002
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation 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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients. 26541979 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Altered gene expression in morphologically normal epithelial cells from heterozygous carriers of BRCA1 or BRCA2 mutations. 20051372 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Non-founder BRCA1 mutations in Russian breast cancer patients. 20727672 2010
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
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 The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. 12393792 2002
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients. 27553291 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Non-founder BRCA1 mutations in Russian breast cancer patients. 20727672 2010
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines. 11920621 2002
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. 16998791 2006
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 CausalMutation CLINVAR
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure. 10699917 2000
Hereditary Breast and Ovarian Cancer Syndrome
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752 2014