BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE ZBRK1, a zinc finger protein that interacts with breast cancer 1 (BRCA1) and KRAB-ZFP-associated protein 1 (KAP1), has been suggested to serve as a tumor suppressor via repression of tumor metastasis/invasion. 23991171 2013
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE In this review, we will discuss the molecular interactions between BRCA1 and the key molecules of Epithelial to Mesenchymal Transition (EMT) associated with metastasis, its associated drug resistance and the possible treatment strategy for BRCA1 mutated breast cancer. 29482782 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE These include germline DNA single-nucleotide polymorphisms in the BRCA1 and -2 genes to determine high risk in unaffected women, selected tissue-based markers to determine prognosis and predict benefit from therapy, and circulating MUC1, CEA and perhaps tumor cells to monitor patients with metastatic disease. 24422569 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE We employed Ovgp1-iCreER<sup>T2</sup> mice to show that FTE-specific inactivation of several different combinations of tumour suppressor genes that are recurrently mutated in human HGSCs - namely Brca1, Trp53, Rb1, and Nf1 - results in serous tubal intraepithelial carcinomas (STICs) that progress to HGSC or carcinosarcoma, and to widespread metastatic disease in a subset of mice. 28608929 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE We developed a multivariable Fine and Gray prediction model (PredictCBC-1A) including patient, primary tumor, and treatment characteristics and BRCA1/2 germline mutation status, accounting for the competing risks of death and distant metastasis. 31847907 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE Among Ashkenazi Jewish women, BRCA1/2 mutations carriers presented higher risk of death from breast cancer (HR 1.44, 95% CI: 1.05-1.97) and of distant metastases (HR 1.82, 95% CI: 1.05-3.16) than sporadic/BRCA-negative patients. 27749552 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE BRCA1 and IGF-IR immunohistochemistry on archival tissues (35 uterine serous carcinomas [USCs] and 17 metastases) were performed. 22635027 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE LOH for TP53, D17S579/ BRCA1, and ESR is common in ovarian SCa, and is observed in primary tumors as well as metastases. 10685639 2000
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE The pathway analysis revealed that BMP6, BRCA1 and P16 have a role in prevention of neoplasm metastasis. 22695536 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE In terms of prognosis, BRCA1 mislocalization showed a 3.5-fold (95% CI: 1.20-10.09) increased risk of breast cancer death compared with DN staining after adjusting for tumor node metastasis stage. 25622084 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE From the Family Cancer Clinic database, we selected 93 BRCA1- and 28 BRCA2-associated breast cancer patients treated with chemotherapy for metastatic disease before January 1, 2007. 19564533 2009
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE Our findings argue that this cytokine set is a diagnostic biomarker for patients who may benefit from an IRIS inhibitor-based therapy, and is a blue print for translation of approaches to combining that therapy with inhibitors of these bidirectional interactions to overcome TNBC metastasis. 29262555 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE The purpose of this study is to evaluate the prevalence of BRCA1/2 mutations and the association between BRCA1/2 mutation status and secondary malignancies among young women with breast cancer in these three racially diverse groups. 19491284 2009
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE Two BRCA1-positive epithelial ovarian tumors with metastases to the central nervous system: a case report. 11263939 2001
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE In this study, we show that while Wt.BRCA1 suppresses OPN-induced metastasis in a rat syngeneic system, Mut.BRCA1 enhances the development of metastasis through OPN, suggesting that OPN and BRCA1 work closely to regulate metastatic development in the rat. 20384635 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 AlteredExpression phenotype BEFREE Together these data suggest that BRCA1 downregulation in melanoma cells did not make them more aggressive and could lead to new therapeutic strategies for this tumor, which is so difficult to control once metastasized. 15009718 2004
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE Moreover, the patients with glycodelin-positive tumours had an increased risk for distant metastases (P = 0.001) and in multivariate analysis glycodelin expression was an independent predictor of metastasis (hazard ratio (HR) = 2.22, 95% confidence interval (95% CI) = 1.22-4.03, P = 0.009) in familial non-BRCA1/2 breast cancer. 20676758 2011
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 PosttranslationalModification phenotype BEFREE Monozygotic twins discordant for constitutive BRCA1 promoter methylation, childhood cancer and secondary cancer. 22207351 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE IRIS-inhibitory peptide killed these IRISOE TNBC/TICs, in vivo and prevented their dissemination and metastasis. 28052035 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 PosttranslationalModification phenotype BEFREE Our meta-analysis revealed that BRCA1 promoter methylation status is linked to tumor grade and LN metastasis of BC. 29970689 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE Annual screening with MRI and mammography improves metastasis free survival in women with BRCA1 mutation or familial predisposition. 25820931 2015