Gene: BARD1

Alternate names for this Gene: -

Gene Summary: This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: BRCA1 associated RING domain 1

Type of Gene: protein-coding

rs587780021 in BARD1 gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 21344236 2012 Cancer predisposing BARD1 mutations in breast-ovarian cancer families.

PMID 26075229 2015 Hereditary ovarian cancer: not only BRCA 1 and 2 genes.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 25994375 2015 Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.

PMID 26010302 2016 Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 26315354 2015 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

PMID 20077502 2010 Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.

PMID 28050010 2017 Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

PMID 26483394 2016 Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

PMID 28174632 2017 BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.

PMID 29292755 2017 Dualistic Role of BARD1 in Cancer.

rs1057517589 in BARD1 gene and Malignant neoplasm of breast PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 17848578 2007 Structural requirements for the BARD1 tumor suppressor in chromosomal stability and homology-directed DNA repair.

PMID 26315354 2015 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

PMID 26738429 2016 New concepts on BARD1: Regulator of BRCA pathways and beyond.

PMID 17550235 2007 Crystal structure of the BARD1 BRCT domains.

PMID 20077502 2010 Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.

PMID 21344236 2012 Cancer predisposing BARD1 mutations in breast-ovarian cancer families.

PMID 11943588 2002 BRCA1-dependent and independent functions of BARD1.

PMID 26546047 2016 Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.

PMID 26556299 2016 Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 25428789 2015 Inherited predisposition to breast cancer among African American women.

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

PMID 26534844 2016 Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

rs6435862 in BARD1 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs1057517589 in BARD1 gene and Neoplastic Syndromes, Hereditary PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 18480049 2008 Crystal structure of the BARD1 ankyrin repeat domain and its functional consequences.

PMID 26315354 2015 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

PMID 21344236 2012 Cancer predisposing BARD1 mutations in breast-ovarian cancer families.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 25994375 2015 Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 26010302 2016 Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.

PMID 28008555 2017 Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 20077502 2010 Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

PMID 25428789 2015 Inherited predisposition to breast cancer among African American women.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 28174632 2017 BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.

PMID 23334666 2013 The genetic landscape of high-risk neuroblastoma.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 28709830 2017 Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2.

PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

PMID 28281021 2017 Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

PMID 17550235 2007 Crystal structure of the BARD1 BRCT domains.

PMID 18842000 2008 The BARD1 C-terminal domain structure and interactions with polyadenylation factor CstF-50.

PMID 15782130 2005 BARD1 induces apoptosis by catalysing phosphorylation of p53 by DNA-damage response kinase.

PMID 14578343 2003 Phosphopeptide binding specificities of BRCA1 COOH-terminal (BRCT) domains.

PMID 27083178 2016 Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial.

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

rs10932572 in BARD1 gene and Neuroblastoma PMID 19412175 2009 Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.

PMID 28924153 2017 Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.

PMID 21124317 2011 Integrative genomics identifies LMO1 as a neuroblastoma oncogene.

PMID 19412175 2009 We also tested the two most significant SNPs (rs6435862, rs3768716) in two additional independent high-risk neuroblastoma case series, yielding combined allelic odds ratios of 1.68 each (P = 8.65 x 10(-18) and 2.74 x 10(-16), respectively).

PMID 19412175 2009 We also tested the two most significant SNPs (rs6435862, rs3768716) in two additional independent high-risk neuroblastoma case series, yielding combined allelic odds ratios of 1.68 each (P = 8.65 x 10(-18) and 2.74 x 10(-16), respectively).

PMID 22941191 2012 Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.