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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE In women aged 25-49 years, the annualized cancer incidence was 1.6% in BRCA1, 1.4% in BRCA2 mutation carriers, and 0.5% in noncarriers. 31657879 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE Here, we show that fork degradation is no longer detectable in BRCA1-deficient cancer cells exposed to multiple cisplatin doses, mimicking a clinical treatment regimen. 31676232 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 AlteredExpression group BEFREE In addition, the levels and patterns of ADPRylation, PARP-1 protein, and gene expression correlated with clinical outcomes in response to platinum-based chemotherapy, with cancers exhibiting the highest levels of ADPRylation having the best outcomes independent of BRCA1/2 status. 31594824 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE We irradiated HT1080, M059K (DNA-PKcs<sup>+/+</sup>), and HCC1937 human cancer cell lines and their isogenic counterparts HT1080-shDNA-PKcs, HT1080-shRAD51<sup>IND</sup>, M059J (DNA-PKcs<sup>-/-</sup>), and HCC1937-BRCA1 (BRCA1 complemented) to assess cell clonogenic survival and γ-H2AX radiation-induced foci. 31425731 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 AlteredExpression group 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE Moreover, MCL1 inhibition potentiates the in vivo efficacy of PARP inhibition (PARPi), underscoring the therapeutic potential of this combination for treatment of BRCA1-mutated cancer patients with poor response to PARPi monotherapy. 30674894 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE Common genetic variants contribute to incomplete penetrance: evidence from cancer-free BRCA1 mutation carriers. 30551077 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE The aim of this study was to compare patient-reported outcomes (PROs) of BRCA1/2 mutation carriers, either after bilateral prophylactic mastectomy (BPM) or during breast surveillance, to improve shared decision-making in their cancer risk management. 31832891 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE This method is useful for identifying BRCA1 deficiencies and localization in a variety of research fields, including development, neurodegeneration, and cancer. 31069686 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE Therefore, using two large series of publicly available breast cancer datasets, namely that from The Cancer Genome Atlas and Wellcome Trust Institute, we sought to investigate the association between BRCA1- and BRCA2-deficiency with features of genomic instability, expression of PD-L1 and PD-1, landscape of inferred tumour-infiltrating immune cells, and T-cell inflamed signature in breast cancers. 31022191 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE Despite calls for BRCA1/2 population screening, there remains a critical need to identify those most at risk who should receive cancer genetics services. 29740170 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE The provision of genetic testing to high-risk women with a BRCA1 and two mutation probability of ≥ 10% based on the individual family cancer history appears to be a cost-effective option for the SHI. 30790097 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE We have found that BRCA1, a multifunctional protein involved in DNA repair and epigenetic regulation, plays a critical role in the regulation of cancer stem cell (CSC)-like characteristics. 31273285 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE KEY POINTS: Germline mutations detected in pediatric gliomas may represent a cancer predisposition syndrome.Integrating molecular testing into routine clinical care for pediatric patients with glioma is critical to identify therapeutic targets and patients with a cancer predisposition syndrome.Patients with glioma with defects in DNA repair pathway components (e.g., <i>BRCA1/2</i>) may show increased responsiveness to poly (ADP-ribose) polymerase (PARP) inhibitors.Combining PARP inhibitors with temozolomide (standard-of-care treatment) revealed no adverse events or toxicities over the course of 18 months. 31619547 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE Intriguingly, in specimens with BRCA1 mutations known to predispose for cancer, higher frequencies of lobular vDP cells are observed. 31619692 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE Talking across generations: Family communication about BRCA1 and BRCA2 genetic cancer risk. 30694012 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE These data may have implications for risk assessment and cancer prevention decision making for carriers of the BRCA1 duplication exon 13 mutation. 30136106 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE Therapeutic strategies designed to tinker with cancer cell DNA damage response have led to the widespread use of PARP inhibitors for BRCA1/2-mutated cancers. 31727767 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE Among the 481 female patients, 135 patients were detected to carry pathogenic (P)/likely pathogenic (LP) mutations (28.1%), which corresponded to 12 different cancer predisposition genes [14.6% (70/481) on BRCA1 gene, 5.0% (24/481) on BRCA2 gene, 8.5% (41/481) on non-BRCA1/2 genes]. 30982232 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE Factors that predicted for BRCA1/2 mutations were: breast and ovarian cancers in the same patient (p = 0.031), young age of EOC (p = 0.029), menstrual status (p = 0.004) and family history of cancer (p < 0.0001). 30651582 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE BRCA1 and BRCA2 (BRCA1/2) pathogenic sequence variants (PSVs) confer elevated risks of multiple cancers. 31112363 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE We identify genetic variants of BRCA1-BARD1 in patients with cancer that exhibit poor protection of nascent strands but retain homologous recombination proficiency, thus defining domains of BRCA1-BARD1 that are required for fork protection and associated with cancer development. 31270457 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE We recommend BRCA1/2 testing for patients with family histories and personal histories of malignancy and genetic counseling for cancer in healthy people with high-risk family histories. 31411802 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE Biallelic BRCA1 mutations are regarded either embryonically lethal or to cause Fanconi anemia (FA), a genomic instability syndrome characterized by bone marrow failure, developmental abnormalities, and cancer predisposition. 31347298 2019