BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 GeneticVariation disease BEFREE We aimed to assess the role of deleterious BARD1 germline variants in BC/OC predisposition in a sample of 4920 BRCA1/2-negative female BC/OC index patients of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). 31036035 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 Biomarker disease BEFREE Significant associations with OC were observed in <i>BRCA1, BRCA2, RAD51C</i> and <i>RAD51D.</i> Other homologous recombination genes, <i>BARD1, NBN,</i> and <i>PALB2,</i> were not significantly associated with OC. 31341520 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 GeneticVariation disease BEFREE Challenges in Interpreting Germline Mutations in BARD1 and ATM in Breast and Ovarian Cancer Patients. 28139868 2017
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 Biomarker disease BEFREE The BARD1 antibody test is highly specific for lung cancer and not breast or ovarian cancer. 28786985 2017
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 GeneticVariation disease BEFREE Recent data indicate that germline mutations of BARD1 may predispose to breast and/or ovarian cancer. 26329992 2015
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 GeneticVariation disease BEFREE In conclusion, although we cannot exclude the presence of large mutations in BARD1, our study indicates that such mutations do not contribute substantially to the risk of breast and/or ovarian cancer. 25994375 2015
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 Biomarker disease BEFREE We found an increased frequency of deleterious mutations in BRIP1 in case patients (0.9%) and in the UKFOCSS participants (0.6%) compared with control patients (0.09%) (P = 1 x 10(-4) and 8 x 10(-4), respectively), but no differences for BARD1 (P = .39), NBN1 ( P = .61), or PALB2 (P = .08). 26315354 2015
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 GeneticVariation disease BEFREE Cancer predisposing BARD1 mutations in breast-ovarian cancer families. 21344236 2012
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 Biomarker disease BEFREE The science behind BARD1 and its role in breast and ovarian cancer is explained in this article. 19959210 2010
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 AlteredExpression disease BEFREE However, cancer-associated mutations of BARD1 are rare; on the contrary, overexpression of truncated BARD1 was found in breast and ovarian cancer and correlated with poor prognosis. 17556008 2007
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 AlteredExpression disease BEFREE Expression of NH(2) terminally truncated BARD1 was correlated with advanced stage of cancer, and expression of spliced isoforms was typical for clear cell carcinoma, the ovarian cancer with worst prognosis, suggesting a role of BARD1 isoforms in cancer progression. 18089818 2007
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 PosttranslationalModification disease LHGDN Maximal BARD1 expression was associated with the most malignant ovarian cancer, clear cell carcinoma. 16152612 2006
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 Biomarker disease BEFREE Several studies have indicated that the BARD1 gene is a potential target for germline changes predisposing to breast and ovarian cancer. 16825437 2006
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 GeneticVariation disease LHGDN To investigate whether alterations in BARD1 are involved in human breast and ovarian cancer, we used single strand conformation polymorphism analysis and sequencing on 35 breast tumours and cancer cell lines and on 21 ovarian tumours. 16061562 2005
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 GeneticVariation disease BEFREE To investigate whether alterations in BARD1 are involved in human breast and ovarian cancer, we used single strand conformation polymorphism analysis and sequencing on 35 breast tumours and cancer cell lines and on 21 ovarian tumours. 16061562 2005
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 GeneticVariation disease LHGDN The involvement of BARD1 mutations in the susceptibility to hereditary breast and breast/ovarian cancer is discussed. 11807980 2002
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 GeneticVariation disease BEFREE The involvement of BARD1 mutations in the susceptibility to hereditary breast and breast/ovarian cancer is discussed. 11807980 2002
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 GeneticVariation disease BEFREE In addition, a germline alteration of BARD1 was identified in a clear cell ovarian tumor (Gln564His); again, loss of the wild-type BARD1 allele was observed in the malignant cells of this patient. 9425226 1998
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 GeneticVariation disease CLINVAR
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.200 Biomarker disease HPO