Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 Biomarker disease BEFREE Correction to: BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report. 30834494 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.800 GeneticVariation disease BEFREE Pathogenic variants in BRCA1 and BRCA2 only explain the underlying genetic cause of about 10% of hereditary breast and ovarian cancer families. 30303537 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.800 GeneticVariation disease BEFREE Inherited pathogenic variants in BRCA1 and BRCA2 are the most common causes of hereditary breast and ovarian cancer (HBOC). 31395037 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 CausalMutation disease CLINVAR Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk. 30257991 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 Biomarker disease BEFREE For the first time, in a retrospective non-cancer related cohort from a single Swiss genetic centre, we systematically assessed the prevalence of secondary findings in 19 genes (BRCA1/2 plus 17 non-BRCA genes) previously designated by the US National Comprehensive Cancer Network (NCCN) for hereditary breast and ovarian cancer (HBOC) germline testing. 31422574 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 Biomarker disease BEFREE Breast cancer gene 1 (BRCA1) is a tumor suppressor that is associated with hereditary breast and ovarian cancer. 30617304 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 GeneticVariation disease BEFREE Here we describe a rapid, multiplex and comprehensive approach for the detection of pathogenic variants in BRCA1 and BRCA2 genes which most frequently occur in Slovak HBOC population. 29534594 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 GeneticVariation disease BEFREE We aimed to determine the prevalence of pathogenic germline <i>BRCA1/2</i> variants in women diagnosed with epithelial ovarian cancer, categorised according to the established risk factors for hereditary breast and ovarian cancer syndrome and the Manchester BRCA Score, to inform risk stratification. 30683677 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 GeneticVariation disease BEFREE Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center. 30480775 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 GeneticVariation disease BEFREE Pathogenic variants in BRCA1 and BRCA2 only explain the underlying genetic cause of about 10% of hereditary breast and ovarian cancer families. 30303537 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 GeneticVariation disease BEFREE In this study, we aimed to investigate the mutation spectrum of BRCA1 and BRCA2 genes in hereditary breast/ovarian cancer (HBOC) families from the Aures region (eastern Algeria). 30715675 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 GeneticVariation disease BEFREE Inherited pathogenic variants in BRCA1 and BRCA2 are the most common causes of hereditary breast and ovarian cancer (HBOC). 31395037 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 GeneticVariation disease BEFREE A total of 54 (23.3%) ovarian cancer patients were found to harbor BRCA1/2 deleterious mutations, and BRCA1/2 mutations were significantly associated with Hereditary Breast and Ovarian Cancer-related tumors and family history of cancer. 30972954 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 GeneticVariation disease BEFREE Following the identification in a proband of a germline BRCA1/BRCA2 mutation in hereditary breast-ovarian cancer (HBOC) or a DNA mismatch repair gene mutation in Lynch syndrome (LS) he or she will be asked to inform at-risk family members about the option for presymptomatic DNA testing. 29846880 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 PosttranslationalModification disease BEFREE Germline promoter hypermethylation of BRCA1 and BRCA2 genes is an alternative event of gene silencing that has not been widely investigated in hereditary breast and ovarian cancer (HBOC) syndrome. 29404838 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 Biomarker disease BEFREE <i>BRCA1/2</i> screening in Hereditary Breast and Ovarian Syndrome (HBOC) is an essential step for effective patients' management. 29570666 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.800 GeneticVariation disease BEFREE Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population? 29750819 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 GeneticVariation disease BEFREE In total, 3310 female BRCA1/2 mutation carriers participating in a nationwide prospective cohort (Hereditary Breast and Ovarian Cancer in the Netherlands) were included. 29483665 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.800 CausalMutation disease CLINVAR BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population. 30103829 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 CausalMutation disease CLINVAR Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. 29712865 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.800 GeneticVariation disease CLINVAR Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer. 29368341 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.800 CausalMutation disease CLINVAR Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study. 29969168 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.800 Biomarker disease BEFREE Lynch syndrome and BRCA-1 and BRCA-2-associated hereditary breast and ovarian cancer are hereditary cancer syndromes frequently involving the gynaecological tract but tumours associated with similar molecular alterations may also occur sporadically. 29287922 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.800 CausalMutation disease CLINVAR Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia. 28993434 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.800 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