Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. 31131967 2019
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 Biomarker disease GENOMICS_ENGLAND Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group. 29661970 2018
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198 2018
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer. 29707112 2018
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. 28637432 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR BRCA1/2 missense mutations and the value of in-silico analyses. 28807866 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. 28678401 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls. 28111427 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 GeneticVariation disease CLINVAR Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. 28339459 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 GeneticVariation disease CLINVAR BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer. 28176296 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 Biomarker disease CLINGEN Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls. 28888541 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 GeneticVariation disease 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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. 28339459 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. 29348823 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients. 28205045 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland. 26843898 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. 27741520 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Prospective phase II trial of trabectedin in BRCA-mutated and/or BRCAness phenotype recurrent ovarian cancer patients: the MITO 15 trial. 26681678 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins. 26635394 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review. 26659639 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR BRCA-associated pancreatico-biliary neoplasms: Four cases illustrating the emerging clinical impact of genotyping. 26004055 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 GeneticVariation disease CLINVAR BRCA-associated pancreatico-biliary neoplasms: Four cases illustrating the emerging clinical impact of genotyping. 26004055 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation disease CLINVAR Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 26824983 2016