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BARD1 and Breast Cancer: The Possibility of Creating Screening Tests and New Preventive and Therapeutic Pathways for Predisposed Women
Article

BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort

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Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, 08908 L’Hospitalet de Llobregat, Spain
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Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08908 L’Hospitalet de Llobregat, Spain
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Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain
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Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Medical Oncology Department, University Hospital Vall d’Hebron, Universitat Autònoma de Barcelona, 08035 Barcelona, Spain
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Medical Oncology Department, Catalan Institute of Oncology, IDIBELL, 08908 L’Hospitalet de Llobregat, Spain
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Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology, 08908 L’Hospitalet de Llobregat, Spain
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Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), 28029 Madrid, Spain
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Genomes for Life-GCAT Lab Group, IGTP, Institut Germans Trias i Pujol (IGTP), 08916 Badalona, Spain
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Hereditary Cancer Program, Catalan Institute of Oncology, IGTP, 08916 Badalona, Spain
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Genetic Counselling Unit, Medical Oncology Department, Althaia Xarxa Assistencial Universitària de Manresa, 08243 Manresa, Spain
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Catalan Health Institute, Vall d’Hebron Hospital Universitari, 08035 Barcelona, Spain
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Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), 08035 Barcelona, Spain
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Hereditary Cancer Program, Catalan Institute of Oncology, IDIBGI, 17007 Girona, Spain
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Medical Sciences Department, School of Medicine, University of Girona, 17007 Girona, Spain
*
Author to whom correspondence should be addressed.
Academic Editors: Irmgard Irminger-Finger and Magda Ratajska
Genes 2021, 12(2), 150; https://doi.org/10.3390/genes12020150
Received: 18 December 2020 / Revised: 13 January 2021 / Accepted: 20 January 2021 / Published: 23 January 2021
(This article belongs to the Special Issue BARD1 in Cancer)
Only a small fraction of hereditary breast and/or ovarian cancer (HBOC) cases are caused by germline variants in the high-penetrance breast cancer 1 and 2 genes (BRCA1 and BRCA2). BRCA1-associated ring domain 1 (BARD1), nuclear partner of BRCA1, has been suggested as a potential HBOC risk gene, although its prevalence and penetrance are variable according to populations and type of tumor. We aimed to investigate the prevalence of BARD1 truncating variants in a cohort of patients with clinical suspicion of HBOC. A comprehensive BARD1 screening by multigene panel analysis was performed in 4015 unrelated patients according to our regional guidelines for genetic testing in hereditary cancer. In addition, 51,202 Genome Aggregation Database (gnomAD) non-Finnish, non-cancer European individuals were used as a control population. In our patient cohort, we identified 19 patients with heterozygous BARD1 truncating variants (0.47%), whereas the frequency observed in the gnomAD controls was 0.12%. We found a statistically significant association of truncating BARD1 variants with overall risk (odds ratio (OR) = 3.78; CI = 2.10–6.48; p = 1.16 × 10−5). This association remained significant in the hereditary breast cancer (HBC) group (OR = 4.18; CI = 2.10–7.70; p = 5.45 × 10−5). Furthermore, deleterious BARD1 variants were enriched among triple-negative BC patients (OR = 5.40; CI = 1.77–18.15; p = 0.001) compared to other BC subtypes. Our results support the role of BARD1 as a moderate penetrance BC predisposing gene and highlight a stronger association with triple-negative tumors. View Full-Text
Keywords: BARD1; breast cancer; triple-negative breast cancer; ovarian cancer; hereditary breast and ovarian cancer; moderate cancer risk BARD1; breast cancer; triple-negative breast cancer; ovarian cancer; hereditary breast and ovarian cancer; moderate cancer risk
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MDPI and ACS Style

Rofes, P.; Del Valle, J.; Torres-Esquius, S.; Feliubadaló, L.; Stradella, A.; Moreno-Cabrera, J.M.; López-Doriga, A.; Munté, E.; De Cid, R.; Campos, O.; Cuesta, R.; Teulé, Á.; Grau, È.; Sanz, J.; Capellá, G.; Díez, O.; Brunet, J.; Balmaña, J.; Lázaro, C. BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort. Genes 2021, 12, 150. https://doi.org/10.3390/genes12020150

AMA Style

Rofes P, Del Valle J, Torres-Esquius S, Feliubadaló L, Stradella A, Moreno-Cabrera JM, López-Doriga A, Munté E, De Cid R, Campos O, Cuesta R, Teulé Á, Grau È, Sanz J, Capellá G, Díez O, Brunet J, Balmaña J, Lázaro C. BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort. Genes. 2021; 12(2):150. https://doi.org/10.3390/genes12020150

Chicago/Turabian Style

Rofes, Paula, Jesús Del Valle, Sara Torres-Esquius, Lídia Feliubadaló, Agostina Stradella, José M. Moreno-Cabrera, Adriana López-Doriga, Elisabet Munté, Rafael De Cid, Olga Campos, Raquel Cuesta, Álex Teulé, Èlia Grau, Judit Sanz, Gabriel Capellá, Orland Díez, Joan Brunet, Judith Balmaña, and Conxi Lázaro. 2021. "BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort" Genes 12, no. 2: 150. https://doi.org/10.3390/genes12020150

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