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 GeneticVariation group BEFREE Full tumor triplets were available for four patients undergoing NACT; whereas primary carcinomas from these patients demonstrated BRCA1 LOH, the retention of the wild-type allele was detected in all four post-NACT residual tumors. 31693165 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE A simultaneous detection of germline and somatic mutations in ovarian cancer (OC) using tumor materials is considered to be cost-effective for <i>BRCA1/2</i> testing. 31788999 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE More than 80% of women with a breast cancer associated with a breast cancer type 1 (BRCA1) mutation develop a TNBC. microRNAs (miRNAs) play critical roles in diverse biological processes and are aberrantly expressed in several human neoplasms including breast cancer, where they function as actors of tumor onset, behavior, and progression. 31736084 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Tumor BRCA1/2 testing was performed for 315 (77.6%) of the 406 eligible OC samples, of which 305 (96.8%) were successful. 31076742 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Whether germline BRCA1/BRCA2 mutation status is independently associated with central nervous system (CNS) relapse, controlling for tumor subtype, is unknown. 31581314 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE The highest CPA was found in breast cancer patients with a hereditary predisposition bearing BRCA1 gene mutations, and the lowest activity was found in patients who had a tumour surgically removed and before adjuvant therapy. 31683457 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE A total of 4206 tumour samples were evaluated for BRCA1 and 1041 for BRCA2 expression. 31719105 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE With the approval of the poly (ADP-ribose) polymerase (PARP) inhibitor olaparib for newly diagnosed, breast cancer gene <i>(BRCA)1/2</i> mutated, ovarian cancer women, the assessment of <i>BRCA1/2</i> tumour status will be shortly required at the time of diagnosis. 31537627 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Consistent with earlier studies, TP53 mutations were present in the majority (96.6%) of the tumors studied, and mutations in BRCA1/2 that affect DNA repair were also detected frequently in 20.5% of the tumors. 31124283 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE In mouse mammary tumors, we showed that Procr<sup>+</sup> cells are enriched for cancer stem cells (CSCs) in Wnt1 basal-like tumors, but not in Brca1 basal-like tumors or PyVT luminal tumors. 31481760 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Because BRCA1 is highly expressed in neuronal progenitor cells during early development<sup>4</sup> and MYC is less efficient than MYCN in recruiting BRCA1, our findings indicate that a cell-lineage-specific stress response enables MYCN-driven tumours to cope with deregulated RNAPII function. 30894746 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE A total of 29/61 (48%) <i>BRCA1/2</i>-associated patients relapsed as a single local tumor; this was lower in sporadic cancer patients (38/134 (28%); p=0.01). 30839285 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Knockdown of various candidate genes led to tumor suppressor phenotypes also observed in BRCA1/BRCA2 deficient cells. 31078449 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Investigators are building on these results by designing novel clinical trials for patients with BRCA1/2-deficient tumors and/or triple-negative breast cancer. 30789866 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE New therapeutic approaches are being developed that target BC patients with germline mutations in either <i>BRCA1, BRCA2</i> as well as <i>BRCAness,</i> a condition in which tumors have molecular similarity to BRCA-mutated tumors. 31182917 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE We carried out WGS on 78 paired germline and tumour DNA samples from individuals carrying pathogenic variants in BRCA1 (n = 26) or BRCA2 (n = 22) or from non-carriers (non-BRCA1/2; n = 30). 31090900 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Finally, a mouse-optimized PEG~SN-38 showed remarkable antitumor activity in BRCA1-deficient MX-1 xenografts; a single dose gave tumor regression, suppression, and shrinkage of massive tumors. 31321449 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE This has lend clues to supervene the risk of GTD patients towards BRCA1 associated diseases and unveil novel therapeutic for GTD, a plant derived naphthoquinone, PB, already reported as selectively cytotoxic against BRCA1 defective tumors. 31219560 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE The greatest effect is seen in women with <i>BRCA1/2</i> tumors but those without this mutation also benefit. 31037967 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE To better understand the correlation between BRCA1/2 mutations and the immune phenotype in prostate cancer, we characterized the immune infiltrate of eight BRCA2-mutated tumors in comparison with eight BRCA1/2 wild-type patients by T-cell receptor sequencing and immunohistochemistry for CD45, CD4, CD8, FOXP3, and CD163. 31549213 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE BRCA1/2 mutation carriers were younger (P < 0.001) with more often negative HER-2 expression (P = 0.01) and tumor size over 2 cm (P = 0.04) than non-carriers. 30895535 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Aberrant Promoter Hypermethylation of RASSF1a and BRCA1 in Circulating Cell-Free Tumor DNA Serves as a Biomarker of Ovarian Carcinoma. 31653147 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Breast cancer gene 1 (BRCA1) is a tumor suppressor that is associated with hereditary breast and ovarian cancer. 30617304 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Thus, AhR represents an attractive target to inhibit redox homeostasis and modulate the tumor promoting microenvironment of basal-like and BRCA1-associated BC. 30733286 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 AlteredExpression group BEFREE Xenografts of NaAsIII‑preconditioned MCF7 cells (MCF7NaAsIII) into the mammary fat pads of nude mice produced a larger tumor volume compared to tumors from control MCF7 cells and were more refractory to TAM in association with the reduced expression of BRCA1 and ERα, CpG hypermethylation of estrogen receptor 1 (ESR1) and BRCA1, and the increased expression of FOLR1. 30664189 2019