Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 Biomarker BEFREE Here we tested the performance of the Ion Torrent PGM platform with the Ion AmpliSeq BRCA1 and BRCA2 Panel in our clinical routine of breast/ovarian hereditary cancer syndrome assessment. 31065452

2019

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel. 29086229

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. 28490613

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication. 28802053

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia. 29335924

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation? 28493033

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 29339979

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Mutations in context: implications of BRCA testing in diverse populations. 28918466

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study. 29337092

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 Biomarker 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: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 29339979

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan. 29176636

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Characterization of mutations in BRCA1/2 and the relationship with clinic-pathological features of breast cancer in a hereditarily high-risk sample of chinese population. 29435039

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients. 29297111

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation 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

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR "A new case of ""de novo"" BRCA1 mutation in a patient with early-onset breast cancer." 28265380

2017

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A case series of three Sri Lankan families with hereditary breast and ovarian cancer syndrome due to pathogenic germline mutations in the BRCA1 gene 28390335

2017

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory. 28408614

2017

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. 28324225

2017

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. 28324225

2017

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 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

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Lost in translation: returning germline genetic results in genome-scale cancer research. 28454591

2017

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer. 28503720

2017

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A high frequency of PALB2 mutations in Jamaican patients with breast cancer. 28194609

2017