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Title: BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort
Author: Rofes, Paula
Valle, Jesús del
Torres Esquius, Sara
Feliubadaló i Elorza, Maria Lídia
Stradella, Agostina
Moreno Cabrera, José Marcos
López Dóriga Guerra, Adriana
Munté, Elisabet
Cid, Rafael de
Campos, Olga
Cuesta, Raquel
Teulé-Vega, Àlex
Grau Garcés, Èlia
Sanz, Judit
Capellá, G. (Gabriel)
Díez Gibert, Orland
Brunet, Joan
Balmaña, Judith
Lázaro García, Conxi
Keywords: Càncer de mama
Càncer d'ovari
Breast cancer
Ovarian cancer
Issue Date: 23-Jan-2021
Publisher: MDPI
Abstract: 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 x 10(-5)). This association remained significant in the hereditary breast cancer (HBC) group (OR = 4.18; CI = 2.10-7.70; p = 5.45 x 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.
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It is part of: Genes, 2021, vol. 12, num. 2
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Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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