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: C1608408
Disease: Malignant transformation
Malignant transformation
0.090 AlteredExpression phenotype BEFREE Furthermore, we demonstrate that the Cep112 protein interaction with Brca1 protein is impaired when an elevated level of Ginir RNA is present in the cells, resulting in severe deregulation and abnormality in mitosis, leading to malignant transformation. 30296263 2018
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.090 Biomarker phenotype BEFREE Importantly, prophylactic window therapy with nimustine and cisplatin resulted in an increased fraction of BRCA1-proficient mammary tumours, suggesting selective survival and malignant transformation of BRCA1-proficient lesions upon prophylactic treatment with DNA-damaging agents. 27943283 2017
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.090 Biomarker phenotype BEFREE BRCA1-KO fibroblasts treated with cancer patients' sera displayed higher proliferation and underwent malignant transformation as opposed to wild type control fibroblasts, which were not affected by exposure to cancer patients' sera. 27179759 2016
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.090 GeneticVariation phenotype BEFREE In vivo BRCA1 messenger RNA expression analyses showed that the rs799917 C allele carriers had significantly decreased BRCA1 expression in both normal and cancerous esophagus tissues compared with T allele carriers, suggesting that lower BRCA1 expression may lead to higher risk for malignant transformation of esophagus cells. 23749772 2013
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.090 AlteredExpression phenotype BEFREE Our findings indicate that the endogenously expressed BRCA1 alternative splicing variants may negatively influence genome stability and support the growing evidence of the pathological potential of the sequence variants generated by an altered or misregulated alternative splicing in the process of mammary malignant transformation. 22245140 2012
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.090 Biomarker phenotype BEFREE BRCA1- and BRCA2-deficient cells display genomic instability due to impaired DNA repair and may subsequently be predisposed to malignant transformation. 21285147 2011
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.090 GeneticVariation phenotype BEFREE Osteopontin can act as an effector for a germline mutation of BRCA1 in malignant transformation of breast cancer-related cells. 20384635 2010
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.090 Biomarker phenotype BEFREE The identification of an interaction between BRCA1 and acetyl-CoA carboxylase alpha (ACCalpha), a key enzyme in lipid synthesis, led us to investigate the role of ACCalpha in breast cancer development, where it might contribute to the energy-sensing mechanisms of malignant transformation. 15333468 2004
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.090 AlteredExpression phenotype BEFREE In an effort to better understand the relationship between BRCA1 expression and malignant transformation, we have adapted the new real-time quantitative PCR method based on a 5' nuclease assay and the use of doubly labeled fluorescent TaqMan probes to quantify BRCA1 mRNA. 10903898 2000