Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Among a total of 106 women with early-onset triple-negative breast cancer (<40 years), 38 (36%) had a BRCA1 mutation, while 27% of women with triple-negative breast cancer diagnosed before 50 years (56/208) had a BRCA1 mutation. 22434525 2012
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Among the intriguing characteristics of triple-negative breast cancer is its association with cancers arising in BRCA1 mutation carriers, in young women and in African-American women. 19008097 2008
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE An overwhelming amount of data supports a strong association between BRCA1 mutations and triple-negative breast cancer (TNBC). 25342642 2014
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Apart from <i>BRCA1/2</i>, the rarely mutated breast cancer predisposition genes <i>PALB2</i> and <i>FANCM</i> have been associated with TNBC. 28611536 2017
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE As a result of a routine BRCA1/BRCA2 mutational screening, we identified a previously unreported BRCA1 sequence alteration [c.5178G>A (V1687I)] in a patient diagnosed with early onset triple negative breast cancer. 22527099 2012
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 Biomarker disease BEFREE As a result, treatment with GO-203 synergistically sensitized both mutant and wild-type BRCA1 TNBC cells to the PARP inhibitor olaparib. 30824588 2019
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Because some breast cancers with BRCA1 or BRCA2 mutations are TNBC, the suppression of PARP has attracted attention as a new treatment strategy for TNBC. 22263793 2012
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 Biomarker disease BEFREE Because sporadic triple-negative breast cancer (TNBC) and BRCA1-associated breast cancer share features suggesting common pathogenesis, we conducted a neoadjuvant trial of cisplatin in TNBC and explored specific biomarkers to identify predictors of response. 20100965 2010
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 Biomarker disease BEFREE Both miRNAs are potential biomarkers for improved overall survival in patients with BRCA1-deficient TNBC tumors. 26835710 2016
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial. 29713086 2018
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women. 22010008 2011
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Clinical outcome of triple negative breast cancer in BRCA1 mutation carriers and noncarriers. 21264845 2011
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 AlteredExpression disease BEFREE Combined analysis of DNA sequencing, DNA methylation, and RNA sequencing identified tumors of a distinct BRCA-deficient (BRCA-D) TNBC subtype characterized by low levels of wild-type BRCA1/2 expression. 27959926 2016
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Compared with other patients, BRCA1 mutation carriers were younger ( P < .001) and more likely to have triple-negative breast cancer ( P = .028). 30130155 2018
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Compared with patients with hormone receptor positive or Her-2 positive breast cancer, patients with TNBC are more commonly young (age <50 years), African-American and have a higher incidence of BRCA1/2 mutations. 26694831 2016
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Consequently, targeted therapies based on the interaction of PI3K inhibition with BRCA1 mutations or HR deficiency in TNBC may be a promising strategy for the treatment of patients with TNBC. 31804921 2019
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 Biomarker disease BEFREE Deciphering the relationship between BRCA1 and TNBC is critical to understanding the etiology of TNBC, leading to improved patient counseling and treatment. 23192404 2013
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Efficacy of anthracycline/taxane-based neo-adjuvant chemotherapy on triple-negative breast cancer in BRCA1/BRCA2 mutation carriers. 28929593 2018
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Enriched only in triple-negative breast cancer (TNBC) and in ovarian, endometrial, and liver cancers, TDP tumors conjointly exhibit tumor protein p53 (TP53) mutations, disruption of breast cancer 1 (BRCA1), and increased expression of DNA replication genes pointing at rereplication in a defective checkpoint environment as a plausible causal mechanism. 27071093 2016
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 Biomarker disease BEFREE Evaluation of tolerability and efficacy of incorporating carboplatin in neoadjuvant anthracycline and taxane based therapy in a BRCA1 enriched triple-negative breast cancer cohort. 29800932 2018
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Founder mutations were detected in 48 samples (10.6%) including 25/64 TNBC (39.1%; 19 BRCA1, 6 BRCA2). 21394499 2011
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE From among 1628 women with TNBC who underwent surgery at Samsung Medical Center (SMC) between Jul 2008 and Jan 2016, 999 samples were available in the SMC biobank for testing germline BRCA 1/2 mutations using next-generation DNA sequencing. 30350268 2019
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 AlteredExpression disease BEFREE Further, a synergistic action of quercetin and curcumin was observed in modulating the BRCA1 level and in inhibiting the cell survival and migration of TNBC cell lines. 30478904 2019
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Generation of induced pluripotent stem cell (iPSC) line from a patient with triple negative breast cancer with hereditary exon 17 deletion of BRCA1 gene. 29034880 2017
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.100 GeneticVariation disease BEFREE Germline BRCA1/2 mutations are found in approximately 15% of TNBC patients. 26010302 2016