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

Genes - 23 Jan 2021

Rofes Paula, Del Valle Jesús, Torres-Esquius Sara, Feliubadaló Lídia, Stradella Agostina, Moreno-Cabrera José Marcos, López-Doriga Adriana, Munté Elisabet, De Cid Rafael, Campos Olga, Cuesta Raquel, Teulé Álex, Grau Èlia, Sanz Judit, Capellá Gabriel, Díez Orland, Brunet Joan, Balmaña Judith, Lázaro Conxi

Abstract excerpt

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...

Topics

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Biomarkers, Tumor
Germ-Line Mutation
Hereditary Breast and Ovarian Cancer Syndrome
Population Surveillance

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Triple Negative Breast Neoplasms

Tumor Suppressor Proteins

Ubiquitin-Protein Ligases

Source

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Identifiers

PMID: 33498765
DOI: 10.3390/genes12020150
PMCID: PMC7911518

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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