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 GeneticVariation phenotype BEFREE A specific BRCA1 variant and > 3.5 pathogenic variants significantly associated with a reduced survival after diagnosis of metastasis. 31254045 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE Patterns of recurrence and metastasis in BRCA1/BRCA2-associated breast cancers. 31581314 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 AlteredExpression phenotype BEFREE We found that four E3 ubiquitin ligases (UHRF1, BRCA1, TRAIP and HLTF) and one regulator of ubiquitin E3 activity DCUN1D1 that were dramatically up-regulated in cancer were significantly associated with tumor metastasis and patient's poor prognosis both in two transcriptome data sets. 30528265 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE BRCA1 gains correlated to shorter time to metastasis (p = 0.012) and expression of ALDH1 (p = 0.014). 30265376 2019
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 Therapy susceptible germline-related BRCA 1-mutation in a case of metastasized mixed adeno-neuroendocrine carcinoma (MANEC) of the small bowel. 29855275 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 AlteredExpression phenotype BEFREE Hence, we speculated that mutations in the tumor suppressor gene, BRCA1, which is already reported to induce metastasis via abnormal expression of Ezrin, Radixin and Moesin (ERM), could generate MAF. 30224826 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE Hybrid Capture-Based Tumor Sequencing and Copy Number Analysis to Confirm Origin of Metachronous Metastases in <i>BRCA1-</i>Mutant Cholangiocarcinoma Harboring a Novel <i>YWHAZ-BRAF</i> Fusion. 29622700 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE Estrogen activated EMT in a subset of Brca1-deficient mammary tumor cells that maintained epithelial features, and enhanced the number of cancer stem cells, promoting tumor progression and metastasis. 29996906 2018
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 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 EOBC BRCA1/2 carriers are at risk to develop bilateral disease; however, they are similarly susceptible for local recurrence, distant metastases and mortality. 27726213 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE Relapse after chemotherapy (p < 0.00001), and local recurrence/distant metastasis after surgery (p = 0.0028) were more pronounced in TNBC patients with BRCA1-IRIS-overexpressing tumors compared to non-TNBC patients. 28499366 2017
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 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 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 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 Normal ovarian epithelial cells overexpressing BRCA1-IRIS formed metastasis in mice when injected in the peritoneal cavity, whereas aggressive ovarian cancer cell lines failed to form tumors or metastases in mice when BRCA1-IRIS was silenced in them. 25132263 2015
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 GeneticVariation phenotype BEFREE Annual screening with MRI and mammography improves metastasis free survival in women with BRCA1 mutation or familial predisposition. 25820931 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE BRCA1 mutation carriers are predisposed to developing basal-like breast cancers with high metastasis and poor prognosis. 25239453 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE All cases with BRCA1 or 2 abnormalities showed either pushing pattern metastases (76%) or infiltrative metastases composed only of micropapillae (24%). 24577588 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE Our results on this case of a patient with BRCA1-mutant breast and ovarian cancer demonstrate that massively parallel sequencing may constitute a useful tool to define the relationship, clonality and intra-tumor genetic heterogeneity between primary tumor masses and their metastatic deposits in patients with multiple primary malignancies and synchronous metastases. 24220311 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 AlteredExpression phenotype BEFREE These predicted miRs were confirmed by Q-PCR analysis and correlated with BRCA1 protein expression among patients along with potential distant metastases. 25273865 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 AlteredExpression phenotype BEFREE Our recent study showing association of hyperhomocysteinemia and hypomethioninemia in breast cancer and other studies indicating association of hyperhomocysteinemia with metastasis and development of drug resistance in breast cancer cells treated with homocysteine lead us to hypothesize that homocysteine might modulate the expression of certain tumor suppressors, i.e., RASSF1, RARβ1, CNND1, BRCA1, and p21, and might influence prognostic markers such as BNIP3 by inducing epigenetic alteration. 23934182 2014