Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Ethnic variations in breast cancer epidemiology and genetics have necessitated investigation of the spectra of BRCA1 and BRCA2 mutations in different populations. 22970155

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Ethnic differences of breast cancer genomics have prompted us to investigate the spectra of BRCA1 and BRCA2 mutations in different populations. 27082205

2016

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Our results confirm the existence of the protective effect of an increasing number of full-term pregnancies (FTPs) toward BC among BRCA1 and BRCA2 mutation carriers (≥3 versus 0 FTPs: hazard ratio (HR) = 0.51, 95% confidence interval (CI) = 0.33 to 0.81). 22762150

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE These results indicate that the lifetime breast cancer risk in BRCA2 carriers, for at least a subset of mutations, is comparable to that for BRCA1. 9245992

1997

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE ΔNp63α induces quiescence and downregulates the BRCA1 pathway in estrogen receptor-positive luminal breast cancer cell line MCF7 but not in other breast cancer cell lines. 26704768

2016

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Recently, linkage analyses of large families with a predisposition to breast cancer have been performed in order to map breast cancer susceptibility genes (TP53, BRCA1, BRCA2). 8605112

1995

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE To compare the sensitivity and specificity of 4 methods of breast cancer surveillance (mammography, ultrasound, MRI, and CBE) in women with hereditary susceptibility to breast cancer due to a BRCA1 or BRCA2 mutation. 15367553

2004

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE A comparative evaluation was conducted of various computer-extracted texture features of mammographic parenchymal patterns of women with BRCA1/BRCA2 gene mutations and those of women at low risk of developing breast cancer. 16039540

2005

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core. 8807330

1996

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE The link between loss or defect in functional BRCA1 and predisposition for development of ovarian and breast cancer is well established. 21887486

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Moreover, detailed morphological analysis of breast cancers of BRCA1 ins6kbEx13 mutation carriers demonstrated a rare histological variant of breast carcinomas that has never been described in patients carrying BRCA1 mutations. 20041308

2010

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Patients with BRCA1-associated breast cancer had twice as many progesterone-receptor-negative tumours (p<0.005) and development of contralateral breast cancer was four to five times as frequent as in the sporadic group (p<0.001). 9652611

1998

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Major gene rearrangements involving BRCA1 BRCA2 contribute little to the burden of inherited predisposition of breast cancer in Ashkenazi Jews. 18798010

2009

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct. 22569005

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE In this study, we used protein interaction assays to determine the binary interactions between the tBRCT domain and mTORC2 subunits, evaluated the impact of mTOR inhibition on the transcriptional function of the tBRCT, evaluated the impact of mTOR signaling on BRCA1 recruitment to DNA damage-induced foci and determined the breast cancer cell line response to mTOR inhibition dependent upon <i>BRCA1</i> expression and mutation. 31771139

2019

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Similarly, AJ women with breast cancer were more likely to have BRCA1 exon 2 mutation (47% positivity in AJ women versus 0-12.5% positivity in other ethnicities; p = 0.004). 25789811

2016

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE The aim of the present study was to detect BRCA1 gene mutations in order to throw more light on their roles as risk factors for breast cancer in Egypt. 27039761

2016

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Mutations of the BRCA1 gene accounted for 84% of the mutations among case subjects with ovarian cancer and 65% of mutations among case subjects with breast cancer. 12181777

2002

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE The aim of this study was to examine the prognostic value of breast cancer susceptibility gene 1 (BRCA1), excision repair cross-complementation 1 (ERCC1), ribonucleotide reductase subunit M1 (RRM1), and ribonucleotide reductase subunit M2 (RRM2) in patients with advanced non-small cell lung cancer (NSCLC) who received platinum-based chemotherapy. 25227663

2014

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Thus, certain BRCA1 mutations that cause hyper-recombination instead of reduced DSB repair might lead to breast cancer. 21666281

2011

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE More and more evidences demonstrate that androgen receptor (AR), epidermal growth factor receptor (EGFR), and breast cancer susceptibility gene 1 (BRCA1) have unique clinical implications for targeted therapy or prognosis in triple-negative breast cancer (TNBC). 25695063

2015

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker BEFREE Real-time PCR quantification of full-length and exon 11 spliced BRCA1 transcripts in human breast cancer cell lines. 10903898

2000

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Identification of this novel mutation stresses the need for developing a database of BRCA1 mutations, which will aid in breast cancer screening in this population. 17131039

2007

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE Five of the BRCA1/2 mutations and 4 of the UVs were not reported in the Breast Cancer Information Core database. 26402875

2015

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation BEFREE BRCA1 and HSD17B2 genes may increase the risk of developing BC via enhanced estradiol activity. 19729830

2009