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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation group BEFREE 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 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 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: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE BARD1 (BRCA1-associated RING-domain 1) is a tumor suppressor whose protein product interacts with BRCA1, and in which rare somatic and germline mutations have been reported in breast, uterine, and endometrial cancers. 16333312 2006
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.020 GeneticVariation disease BEFREE BARD1 (BRCA1-associated RING-domain 1) is a tumor suppressor whose protein product interacts with BRCA1, and in which rare somatic and germline mutations have been reported in breast, uterine, and endometrial cancers. 16333312 2006
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 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: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE BARD1 plays a crucial role in tumor repression, along with its heterodimeric partner BRCA1. 17028982 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE BARD1 and BRCA1 form a stable heterodimer and dimerization, which is required for most tumor suppressor functions attributed to BRCA1. 17556008 2007
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE BARD1 repression by siRNAs, mitigates the interference of cytotrophoblasts with cell adhesion of collagen matrix-dependent epithelial cells, suggesting a role of BARD1 isoforms in extracellular matrix remodelling and in cytotrophoblasts invasion. 17556008 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE BARD1 is required for protein stability and tumor suppressor functions of BRCA1, which depend on the ubiquitin ligase activity of the BRCA1-BARD1 heterodimer. 18089818 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease BEFREE BARD1 homozygous deletion, a possible alternative to BRCA1 mutation in basal breast cancer. 20842729 2010
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 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: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		0.010 AlteredExpression disease BEFREE BARD1 and RAD51 are frequently overexpressed in brain metastases from breast cancer and may constitute a mechanism to overcome reactive oxygen species-mediated genotoxic stress in the metastatic brain. 24948741 2014
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 Biomarker disease BEFREE BARD1 is a breast cancer tumor suppressor with multiple domains and functions. 26022179 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 AlteredExpression disease BEFREE BARD1 is expressed as splice variant isoforms in breast cancer. 27477900 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE BARD1 (BRCA1 associated RING domain protein 1), as an important animal tumor suppressor gene associated with many kinds of cancers, has been intensively studied for decades. 27502904 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE BARD1 (BRCA1 associated RING domain protein 1), as an important animal tumor suppressor gene associated with many kinds of cancers, has been intensively studied for decades. 27502904 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE BRCA1-associated RING domain protein 1 (BARD1) is a tumor suppressor, which forms a heterodimer with BRCA1. 28161399 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE BARD1 mutant reported in cancer failed to bind to OLA1 and rescue the BARD1 knockdown-induced centrosome amplification and reduced its centrosomal localization. 29858377 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation group BEFREE BARD1 mutant reported in cancer failed to bind to OLA1 and rescue the BARD1 knockdown-induced centrosome amplification and reduced its centrosomal localization. 29858377 2018