rs28897672, BRCA1

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.730 GeneticVariation BEFREE The risk for breast cancer was 42% higher among first degree relatives of carriers of the C61G missense mutation compared to other mutations (HR = 1.42; p = 0.10) and the risk for ovarian cancer was lower than average (OR = 0.26; p = 0.03). 16227521 2006
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.730 GeneticVariation BEFREE The risk for breast cancer was 42% higher among first degree relatives of carriers of the C61G missense mutation compared to other mutations (HR = 1.42; p = 0.10) and the risk for ovarian cancer was lower than average (OR = 0.26; p = 0.03). 16227521 2006
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.730 CausalMutation CLINVAR
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.730 GeneticVariation UNIPROT
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer. 28423363 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. 28324225 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers. 28477318 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. 25782689 2015
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Homologous Recombination Deficiency: Exploiting the Fundamental Vulnerability of Ovarian Cancer. 26463832 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111 2013
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Mechanisms of BRCA1 tumor suppression. 22843421 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. 21990165 2012
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134 2012
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 RING function is essential for tumor suppression but dispensable for therapy resistance. 22172724 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Prevalence of the most frequent BRCA1 mutations in Polish population. 21503673 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes. 21965345 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling. 21520273 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. 21922593 2011