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 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: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Yet one question still remains: why is mutation of BRCA1 typically associated with preferential development of breast and ovarian cancers and not tumors in other tissues? 26822887 2016
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
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Women were identified by self-referral, physician referral, and tumor registry extraction and invited to participate in a randomized trial in which testing for BRCA1 and BRCA2 was offered free of charge. 10071299 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Women carrying one mutated BRCA1 allele are at increased risk of developing breast and ovarian cancer but tumor initiation requires the loss of the wild-type allele indicating that it is a tumor suppressor gene. 16051027 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Women carriers of mutations in the genes BRCA1 and BRCA2 coding for tumor suppressor proteins are at high risk of developing breast and ovarian cancers. 30295091 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Within BRCA1 mutation carriers, as well as within noncarriers, triple-negative receptor status was associated with younger age at diagnosis and higher tumor grade. 22010008 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE With the known interaction of BRCA1 and IGF signaling and the loss of PTEN in a majority of BRCA1 tumors, this suggests that signaling through AKT may modify breast cancer risk in BRCA1 carriers. 21708937 2011
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 Biomarker group BEFREE With the aim of finding hypermethylation at CpG islands of promoter of BRCA1 gene, belonged to the tumor suppressor gene family, as the biomarker for breast cancer in Vietnamese population, sensitive methyl specific PCR (MSP) was carried out on 115 samples including 95 breast cancer specimens and 20 normal breast tissues with other diseases which were obtained from Ho Chi Minh City Medical Hospital, Vietnam. 25520075 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE With regard to event-free-survival, the primary endpoint of the trial, patients with a BRCA1-like tumor had a hazard rate of 0.2, 95% confidence interval (CI): 0.07-0.63, p = 0.006. 26946057 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE With GLK-2 antibody, cytoplasmic staining was observed in 15 of 16 tumors (93.8%) with mutation in exon 11, and BRCA1 staining was absent in 8 of 8 tumors (100%) with mutation in exons other than exon 11. 10804288 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Why the BRCA1 protein suppresses tumor development specifically in ovarian hormone-sensitive tissues remains unclear. 17138902 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE While up to 20% of women under 50 years of age with TNBC harbor germline mutations in BRCA1, and these tumors are sensitive to treatment with poly(ADP) ribose polymerase inhibitors, a majority of TNBCs lack BRCA1 mutations or loss of expression. 25026298 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE While the role of BRCA1 in homology-directed repair of DNA double-strand breaks contributes to its tumor suppressive activity, it also renders BRCA1-deficient cells highly sensitive to DNA-damaging agents. 23955079 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE While six tumours in the control group harboured HER-2 amplifications with normal TOP2A, this occurred in three of the BRCA1 associated tumours only. 17453369 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 AlteredExpression group BEFREE While over-expression of mutant H-Ras transformed MCF10A cells, depletion of BRCA1 dramatically enhanced the in vivo tumorigenesis that was associated with higher levels of VEGF, enhanced vascularization and less apoptosis in the BRCA1-deficient Ras-transformed tumors. 20038817 2009
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 AlteredExpression group BEFREE Whereas our analysis of 30 sporadic ovarian carcinomas showed a statistically significant reduction of BRCA1 mRNA expression (P = 0.001), it also showed, in contrast, overexpression of BRCA2 mRNA (P = 0.002) in tumor compared with nontumor. 12124354 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE When the MLPA-test was subsequently applied to 46 breast tumour samples from a randomized clinical trial, the same survival benefit for BRCA1-like tumours associated with intensified alkylating chemotherapy was shown as was previously reported using the aCGH assay. 22032731 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 AlteredExpression group BEFREE When BRCA1 expression in tumor cDNA was not detected with a protein truncation test, a methylation-specific PCR was used to determine whether the promoter region of BRCA1 was methylated and thus inactivated.All statistical tests were two-sided. 11773283 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE We, therefore, looked for LOH at microsatellite polymorphisms linked to the BRCA1 and TP53 tumor suppressor loci in an incidental carcinoma in situ of the ovary removed prophylactically from a woman with a germline BRCA1 mutation. 10880552 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE We were able to identify pathogenic variants predisposing for tumor formation in 12.3% of BRCA1/2 negative breast and/or ovarian cancer patients. 30426508 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE We used Illumina sequencing technology to sequence the transcriptomes of five BRCA1-mutated breast cancer cell lines, three BRCA1-mutated primary tumors, two secretory breast cancer primary tumors and one non-tumorigenic breast epithelial cell line. 22032724 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 PosttranslationalModification group BEFREE We used bisulfite pyrosequencing to compare the constitutive promoter methylation of BRCA1 and several other tumor suppressor genes in primary fibroblasts. 22207351 2012