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 Preoperative Panel Testing for Hereditary Cancer Syndromes Does Not Significantly Impact Time to Surgery for Newly Diagnosed Breast Cancer Patients Compared with BRCA1/2 Testing. 28766202

2017

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 Biomarker BEFREE We conclude that GC should be considered as a part of BRCA1-related hereditary cancer syndrome. 23532817

2013

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 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 Biomarker BEFREE Occurrence of childhood tumors in hereditary cancer syndromes such as BRCA1/2 associated breast and ovarian cancer, DNA-mismatch repair (MMR) genes associated hereditary non polyposis colorectal cancer and CDKN2A associated familial malignant melanoma are very little studied. 18481196

2008

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 CausalMutation CLINVAR Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex. 12732733

2003

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 Primary ovarian dysgerminoma in a patient with a germline BRCA1 mutation. 11109172

2000

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 breast cancer patients from Venezuela. 23096355

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation. 12496477

2003

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. 25782689

2015

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. 25863477

2015

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. 11597388

2001

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers. 12491499

2003

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Ten novel BRCA1 and BRCA2 mutations in breast and/or ovarian cancer families from northern Germany. 11102986

2000

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1. 12815598

2003

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. 12181777

2002

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 Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations. 24285858

2014

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Genetic characterization of early onset ovarian carcinoma. 26718727

2016

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Germline mutations of BRCA1 and BRCA2 genes in Turkish breast, ovarian, and prostate cancer patients. 21156238

2010