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: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 GeneticVariation disease BEFREE Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. 31036035 2019
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 Biomarker disease CLINGEN The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. 28649662 2017
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 Biomarker disease CLINGEN Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. 28418444 2017
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 Biomarker disease CLINGEN Inherited Mutations in Women With Ovarian Carcinoma. 26720728 2016
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 Biomarker disease CLINGEN Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks. 26350354 2015
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 GeneticVariation disease BEFREE The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population. 22544576 2012
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 Biomarker disease CLINGEN BARD1 homozygous deletion, a possible alternative to BRCA1 mutation in basal breast cancer. 20842729 2010
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 Biomarker disease CLINGEN The basal-like mammary carcinomas induced by Brca1 or Bard1 inactivation implicate the BRCA1/BARD1 heterodimer in tumor suppression. 18443292 2008
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 Biomarker disease BEFREE We have found no evidence to support involvement of BARD1 in familial breast cancer risk in the Australian population. 17972171 2008
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 GeneticVariation disease BEFREE These results suggest that the contribution of the BARD1 germline variants to breast cancer predisposition is very limited, and that neither Cys557Ser nor Val507Met have an effect on familial breast cancer susceptibility. 16333312 2006
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 Biomarker disease CLINGEN The BRCA1/BARD1 heterodimer modulates ran-dependent mitotic spindle assembly. 17081976 2006
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 Biomarker disease CLINGEN Loss of Bard1, the heterodimeric partner of the Brca1 tumor suppressor, results in early embryonic lethality and chromosomal instability. 12832489 2003
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 Biomarker disease BEFREE Mutational analysis of BARD1 in familial breast cancer patients in Japan. 14550946 2003
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 Biomarker disease CLINGEN BARD1 induces BRCA1 intranuclear foci formation by increasing RING-dependent BRCA1 nuclear import and inhibiting BRCA1 nuclear export. 11925436 2002
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 Biomarker disease CLINGEN The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. 11278247 2001
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.350 Biomarker disease CLINGEN Identification of BARD1 as mediator between proapoptotic stress and p53-dependent apoptosis. 11779501 2001