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 Biomarker disease MGD
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease CTD_human
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease UNIPROT
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Breast cancer susceptibility gene 1 (BRCA1) and binding partner BRCA1-associated RING domain protein 1 (BARD1) form an essential E3 ubiquitin ligase important for DNA damage repair and homologous recombination. 30383767 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE BARD1 is indispensable for cell viability, so loss-of-function mutations are rare, but mutations and truncations that alter its function might be involved in the pathogenesis of breast cancer. 16633366 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE BARD1 Cys557Ser was associated with an increased BC risk (P = 0.04, OR = 3.4 [95 % CI 1.2-10.2]) among cases belonging to families with a strong family history of BC. 22544576 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE BARD1 is a breast cancer tumor suppressor with multiple domains and functions. 26022179 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 AlteredExpression disease BEFREE BARD1 is expressed as splice variant isoforms in breast cancer. 27477900 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE BARD1-mutated BC index patients showed a significantly younger mean age at first diagnosis (AAD; 42.3 years, range 24-60 years) compared with the overall study sample (48.6 years, range 17-92 years; P = 0.00347). 31036035 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE A blood test based on BARD1, a protein that interacts with the breast cancer gene product BRCA1, is a promising candidate for fulfilling these conditions. 19959210 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE A homologue of the breast cancer-associated gene BARD1 is involved in DNA repair in plants. 16957774 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE A significant proportion of BRCA1 tumours were positive for PARP1 (non-cleaved), and negative for BARD1 and RAD51 compared with sporadic BC. 25690937 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE After exclusion of BRCA1, BRCA2, and syndromic breast cancer genes (CDH1, PTEN, and TP53), observed pathogenic variants in 5 of 16 genes were associated with high or moderately increased risks of breast cancer: ATM (OR, 2.78; 95% CI, 2.22-3.62), BARD1 (OR, 2.16; 95% CI, 1.31-3.63), CHEK2 (OR, 1.48; 95% CI, 1.31-1.67), PALB2 (OR, 7.46; 95% CI, 5.12-11.19), and RAD51D (OR, 3.07; 95% CI, 1.21-7.88). 28418444 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Because BARD1 associates via its NH2-terminal RING domain with the breast cancer susceptibility gene BRCA1 that provides a platform for interactions with proteins involved in DNA repair and checkpoint control, our results provide a link between the Ewing's sarcoma gene product and the genome surveillance complex. 12183411 2002
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Bioinformatics analysis revealed that BARD1 may be a predictive biomarker for prognosis of breast cancer. 31808361 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 AlteredExpression disease BEFREE BRCA1 and BARD1 expressions were performed by immunohistochemistry and immunofluorescence in 103 breast cancer tumors. 26395808 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE BRCA1 or BRCA2 mutations were found in 7.3% of the subjects, 6.3% had a mutation in other breast cancer genes (PALB2, CHEK2, ATM, and BARD1), and 1.6% had mutations in genes not associated with breast cancer. 30933323 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE BRCA1-associated RING domain (BARD1) was identified as a protein interacting with the breast cancer gene product BRCA1. 9832560 1998
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 CausalMutation disease CLINVAR BRCA1-dependent and independent functions of BARD1. 11943588 2002
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease CLINVAR Cancer predisposing BARD1 mutations in breast-ovarian cancer families. 21344236 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease CLINVAR Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. 20077502 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease CLINVAR Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer. 26546047 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Carriers of the common Icelandic BRCA2 999del5 mutation were found to have their risk of breast cancer further increased if they also carried the BARD1 variant: the frequency of the BARD1 variant allele was 0.047 (OR = 3.11, 95% CI 1.16-8.40, p = 0.046) in 999del5 carriers with breast cancer. 16768547 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 AlteredExpression disease BEFREE CircRNA_BARD1 (circ_0001098) was up-regulated in breast cancer with the treatment of TCDD and the up-regulation of circRNA_BARD1 could restrain cell proliferation, block cell cycle and promote cell apoptosis. 30521417 2018