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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Given that the function of any PSi-based biosensor is highly dependent on its nanomorphology, we systematically optimized a PSi biosensor based on reflectometric interference spectroscopy (RIS) detecting the high penetrance breast cancer susceptibility gene, BRCA1. 30124007 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Associations between female reproductive factors and breast cancer risk have been widely studied in the general population and BRCA1/2 mutation carriers but not in LFS. 31212162 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Our findings show that those at low risk of carrying a BRCA1/2 mutation had limited understanding of the distinction between mutation risk and breast cancer risk. 31597139 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE The most important cause of developing hereditary breast cancer is germline mutations occurring in breast cancer (BCs) susceptibility genes, for example, BRCA1, BRCA2, TP53, CHEK2, PTEN, ATM, and PPM1D. 30552672 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE We show that pregnancy triggers replicative stresses leading to genetic instability in mice carrying a mammary specific disruption of breast cancer associated gene-1 (BRCA1). 30445628 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Finding the differences between these two types of breast cancer (non-BRCA1/A2 and BRCA1/A2) at genomic, transcriptomic, and proteomic levels can help us to elucidate fundamental molecular processes and develope more promising therapeutic targets. 30125992 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Genetic predisposition, such as breast cancer 1 (BRCA1) mutations, account for a minor percentage of the total breast cancer incidences. 31690802 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE BRCA 1/2 gene mutations do not affect the capacity of oocytes from breast cancer candidates for fertility preservation to mature in vitro. 30561604 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. 31467304 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Here we show that RD-N treatment drives CTSB translocation from the lysosomes to the nucleus where it promotes DNA damage by suppression of the breast cancer 1 protein (BRCA1). 30565390 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Women who inherit a BRCA1 or BRCA2 mutation have an increased risk of breast cancer. 31407530 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE These myoepithelial perturbations in normal breast tissues of BRCA1 germline mutation carriers may play a role in their higher risk of breast cancer. 31519911 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE The present study aimed to investigate the effect of the combined treatment with cisplatin and radiation therapy on the biological characteristics of the osteosarcoma cell line MG-63 and the breast cancer 1 (BRCA1)-associated signaling pathways. 31807162 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Western Analysis of Breast Cancer 1 Protein (BRCA1). 31069686 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Compound 81, an isoform-selective PARP-1/-2 (IC<sub>50</sub> = 30 nM/2 nM) inhibitor, demonstrated selective cytotoxic effect toward breast cancer gene 1 ( BRCA1)-deficient cells compared to isogenic BRCA1-proficient cells. 31042381 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 AlteredExpression disease BEFREE However, it is still unclear how BRCA1 and CCND1 expression levels affect the effect of T cell activation on breast cancer patient survival. 31023256 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Breast cancer gene 1 (BRCA1) is a tumor suppressor that is associated with hereditary breast and ovarian cancer. 30617304 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE The aim of this study was to estimate the efficiency of providing germline BRCA1/2 testing to high-grade epithelial ovarian cancer (HGEOC) patients without family history of OC or BC and the subsequent testing and management of their relatives with gBRCA1/2m in Spain. 30617925 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Women with an inherited germline BRCA1 mutation have a high lifetime risk of developing breast cancer. 30612273 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE We searched for germline mutations in the TP53 gene using targeted next-generation sequencing (NGS) in 78 BC patients younger than 45 years old (yo) who tested negative for BRCA1/2 mutations. 30709381 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Here we investigated the impact of the absence of PARP3 or its inhibition on the tumorigenicity of BRCA1-proficient versus BRCA1-deficient breast cancer cell lines, focusing on the triple-negative breast cancer subtype (TNBC). 30442946 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Therefore, features of genomic instability such as that mediated by BRCA1- and BRCA2- deficiency in breast cancer were necessary, but not always sufficient, for yielding T cell-inflamed tumour microenvironment, and by extension, predicting clinical benefit from immunotherapy. 31022191 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Should women with a BRCA1/2 mutation aged 60 and older be offered intensified breast cancer screening? - A cost-effectiveness analysis. 30904701 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 AlteredExpression disease BEFREE The present study aimed to investigate BRCA1 and FANCD2 expression in breast cancer, and to highlight the association with patient clinical characteristics and prognoses. 30881493 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE There were no significant differences in disease-free survival, overall survival, or breast cancer-specific survival (p = 0.799, 0.092, and 0.124, respectively) between BRCA 1/2 carriers and non-carriers, although BRCA 1/2 carriers showed significantly worse contralateral breast cancer-free survival (p < 0.0001) than non-carriers. 30350268 2019