rs28897743, BRCA2

N. diseases: 5
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
0.800 CausalMutation CLINVAR
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
0.800 GeneticVariation CLINVAR
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 CausalMutation CLINVAR
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 CausalMutation CLINVAR
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation CLINVAR Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. 31131967 2019
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients. 29297111 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. 28973083 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing. 28541631 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing. 28294317 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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients. 26968956 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Identification of novel BRCA founder mutations in Middle Eastern breast cancer patients using capture and Sanger sequencing analysis. 27082205 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. 24916970 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. 24916970 2015
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer. 25556971 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Novel and recurrent BRCA2 mutations in Italian breast/ovarian cancer families widen the ovarian cancer cluster region boundaries to exons 13 and 14. 25395318 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Cycling with BRCA2 from DNA repair to mitosis. 25447315 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 germline mutations may be associated with reduced ovarian reserve. 25256924 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Novel and recurrent BRCA2 mutations in Italian breast/ovarian cancer families widen the ovarian cancer cluster region boundaries to exons 13 and 14. 25395318 2014
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation CLINVAR A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. 24312913 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations. 21548014 2012