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: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE BRCA1/2 genes with high-penetrance are tumor suppressor and tumor susceptibility genes that play important roles in the homologous recombination mechanism in DNA repair and increase breast cancer risk. 31563594 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Thus, we interbred mice expressing the CRE-recombinase with mice harboring loxP sites at TP53 and BRCA1 (K14-Cre; p53<sup>f/f</sup> Brca1<sup>f/f</sup>) to test the hypothesis that tissue-specific deletion of TP53 and BRCA1 would give rise to tumors reflective of human basal-like breast cancer. 30484104 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Cancer therapies using defects in homologous recombination (HR) DNA repair pathway of tumor cells are not yet approved to be applicable in patients with malignancies other than BRCA1/2-mutated tumors. 31423128 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Conversely, among patients with non-BRCA-associated cancer types, most carriers of these BRCA1/2 mutation types had evidence for tumour pathogenesis that was independent of mutant BRCA1/2. 31292550 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE BReast Cancer Associated proteins 1 and 2 (BRCA1, -2) and Partner and Localizer of BRCA2 (PALB2) protein are tumour suppressors linked to a spectrum of malignancies, including breast cancer and Fanconi anemia. 31017574 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE The concordance rate between tumor BRCA test results and germline <i>BRCA1/2</i> status was 87%, with five cases harboring pathogenic/likely pathogenic somatic-only mutations. 31653094 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma. 30940100 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 AlteredExpression group BEFREE Inhibiting IRIS expression limits TNBC tumor growth and progression through an MSC-induced death of IRIS-silenced/inactivated TNBC cells. 31014367 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Given its important role in human health and disease, remarkably little is known about the full-length three-dimensional (3D) molecular architecture of the breast cancer type 1 susceptibility protein (BRCA1), or its mechanisms to engage the tumor suppressor, TP53 (p53). 30503669 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE A total of 1,195 serum and/or tumor specimens were sequenced for <i>BRCA1/2</i> and damaging mutations in homologous recombination repair (HRR) genes. 31216226 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Among 161 patients, stromal TIL (sTIL) density was not significantly associated with HRD status (p=0.107) or tumor <i>BRCA1/2</i> mutation status (p=0.391). 31796517 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE The data presented here indicate that in the absence of BRCA1 germline mutations, a higher number of driver mutations are required for tumor development and that different defective processes are operating in the tumorigenesis of hereditary and sporadic TNBC in young women. 31419696 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 AlteredExpression group BEFREE However, recent studies not only identify new functions for BRCA1 and BRCA2 in the regulation of transcription and RNA processing potentially relevant to their tumour suppressive activity, but also suggest that monoallelic BRCA2 gene mutations suffice for carcinogenesis. 31337537 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. 30765603 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE CLDN3 was expressed in 58% of BRCA1-mutated tumors compared to only 7% in BRCA2-mutated tumors (p < 0.001) and 1% in WT tumors (p < 0.001). 31307407 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Here, we sought to dissect the mechanisms underlying PARP inhibitor-induced changes in the tumor microenvironment of BRCA1-deficient triple-negative breast cancer (TNBC). 31015319 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE We assessed mutational profiles and proliferative capacity by covariate-adjusted linear models and identified differentially methylated regions using DMRcate in BRCA1-like hormone-receptor-positive tumors. 30683142 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Breast cancer patients with BRCA1/2-driven tumors may benefit from targeted therapy. 30175445 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Iterative mouse modeling and comparative oncogenomics analysis show that MYC-overexpression strongly reshapes the CNA landscape of BRCA1-deficient mammary tumors and identify MCL1 as a collaborating driver in these tumors. 30674894 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE <i>In vivo</i> therapeutic targeting of EF2K by CoFe-siRNA-nanoparticles leads to sustained <i>EF2K</i> gene knockdown and suppressed tumor growth in orthotopic xenograft models of BRCA1-mutated breast cancer. 31432749 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE No differences in age or tumour characteristics were detected between BRCA1 carriers and BRCA1 noncarriers. 31537406 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE In mucinous neoplasms; altered BRCA-1 was detected in 25 specimens; 7 of 20 (41%) of benign cystadenomas, 5 of 15 (33%) of borderline neoplasms, 9 of 20 (45%) of primary carcinoma, and 4 of 5 (80%) of the metastatic deposits. 30446260 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Here we show that in the BRCA1-A complex structure, ABRAXAS integrates the DNA repair protein RAP80 and provides a high-affinity binding site that sequesters the tumor suppressor BRCA1 away from the break site. 31253574 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Interestingly, based on the results of the subgroup analysis, the F352 V polymorphism was associated with the overall risk of neoplasms in BRCA1 mutation carriers but not in BRCA2 mutation carriers. 30633899 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE A total of 54 (23.3%) ovarian cancer patients were found to harbor BRCA1/2 deleterious mutations, and BRCA1/2 mutations were significantly associated with Hereditary Breast and Ovarian Cancer-related tumors and family history of cancer. 30972954 2019