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 Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of postmenopausal women at a high risk for developing breast cancer. 14550946 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease CLINVAR Crystal structure of the BARD1 BRCT domains. 17550235 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE The implicated DNA repair genes BARD1 and RAD51 were modulated in human (MDA-MB-231-BR) and murine (4T1-BR) brain-tropic breast cancer cell lines by lentiviral transduction of cDNA or short hairpin RNA (shRNA) coding sequences. 24948741 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Our data imply a critical role of UBE2T in development and/or progression of breast cancer through the interaction with and the regulation of the BRCA1/BARD1 complex. 19887602 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Tamoxifen-resistant breast cancer cells are resistant to DNA-damaging chemotherapy because of upregulated BARD1 and BRCA1. 29686231 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE The BARD1 protein, which heterodimerizes with BRCA1, is encoded by a known breast cancer susceptibility gene. 30925164 2019
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 GeneticVariation disease BEFREE The breast cancer regulatory protein-1 (BRCA1)-associated RING domain 1 (BARD1) gene is mutated in a subset of breast/ovarian cancers. 17510055 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 CausalMutation disease CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Using DHPLC analysis we screened the coding region of BARD1 for variants in 210 probands of breast cancer families including 129 families with no mutations in BRCA1 or BRCA2. 17972171 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 CausalMutation disease CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 CausalMutation disease CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923 2016
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 BEFREE However,other genes, such as ATM, PALB2, BRIP1, CHEK, BARD1, while lower in frequency, may also increase breast cancer risk. 29093764 2017
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 Biomarker disease BEFREE Over the past years BARD1 (BRCA1-associated RING domain 1) has been considered as both a BRCA1 (BReast Cancer susceptibility gene 1, early onset) interactor and tumor suppressor gene mutated in breast and ovarian cancers. 24349422 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Germline pathogenic variants in BARD1, BRCA1, BRCA2, PALB2, and RAD51D were associated with high risk (odds ratio > 5.0) of TNBC and greater than 20% lifetime risk for overall breast cancer among Caucasians. 30099541 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE The connections between BRCA1/BARD1 and PR activity suggested by our findings may help explain why host mutations in BRCA1 exert a tissue specificity in preferentially elevating the risk of breast cancer. 21531767 2011
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 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 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 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 GeneticVariation disease BEFREE Furthermore, the BARD1 Cys557Ser allele does not appear to modify the risk of breast cancers among carriers of BRCA1 mutations, or of other predisposing mutations. 17333333 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Here, we observe that purified RINGs from a variety of functionally unrelated proteins, including promyelocytic leukemia protein, KAP-1TIF1beta, Z, Mel18, breast cancer susceptibility gene product 1 (BRCA1), and BRCA1-associated RING domain (BARD1), self-assemble into supramolecular structures in vitro that resemble those they form in cells. 12438698 2002
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Our data suggest that TNBC patients are enriched for pathogenic BARD1 germline mutations as compared to control samples and high BC risk families. 26010302 2016