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 CausalMutation disease CLINVAR Inherited predisposition to breast cancer among African American women. 25428789 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 CausalMutation disease CLINVAR Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. 25503501 2015
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 CausalMutation disease CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441 2015
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 GeneticVariation 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 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 GeneticVariation disease CLINVAR Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. 24549055 2014
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 SNP sites rs2229571 and rs1048108 of BARD1 are associated with a lower risk of breast cancer but not rs2070094. 23966609 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE The breast cancer susceptibility gene BARD1 (BRCA1-associated RING domain protein, MIM# 601593) acts with BRCA1 in DNA double-strand break (DSB) repair and also in apoptosis initiation. 21344236 2012
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 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 BEFREE Lack of association between BARD1 Cys557Ser variant and breast cancer risk: a meta-analysis of 11,870 cases and 7,687 controls. 21809034 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. 21393566 2011
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 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 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 In conclusion, we provide evidence for an increased breast cancer risk associated to specific BARD1 germline mutations. 20077502 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE This observation suggests that BARD1 might be a BC susceptibility gene that follows the Knudson rule. 20842729 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE We conclude that the BARD1 Cys557Ser variant is not associated with breast cancer risk. 18481171 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian families with high risk of breast cancer. 19197335 2009
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 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 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