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Spectrum of double heterozygosity in individuals diagnosed with hereditary breast and ovarian cancer.

European journal of cancer (Oxford, England : 1990) - 26 Aug 2026

Herold Natalie, Engel Christoph, Speiser Dorothee, Ripperger Tim, Gehrig Andrea, Harbeck Nadia, Arnold Norbert, Dikow Nicola, Ledig Susanne, Leinert Elena, Rath Matthias, Hauke Jan, Morlot Susanne, Ditsch Nina, Ritter Julia, Blümcke Britta, Schröder Jörg, Waha Anke, Hester Anna, Maringa Monika, Jäger Bernadette A S, Schmutzler Rita, Wimberger Pauline, Wappenschmidt Barbara, Sander Bjoern, Solbach Christine, Weber Bernhard H F, Blaum Tobias, Schroeder Christopher, Volk Alexander E, Aktas Bahriye, Kiechle Marion, Meisel Cornelia, Fehm Tanja, Hahnen Eric, Auber Bernd, Rhiem Kerstin, Golas Monika M

Abstract excerpt

BACKGROUND: (Likely) pathogenic variants (pVs) in hereditary breast and/or ovarian cancer (HBOC) genes increase cancer risk, but the clinical implications of multiple pVs remain insufficiently understood. METHODS: Using data from the prospective nationwide German Consortium for HBOC registry, we conducted a case-control study of genotype-phenotype associations, matching female carriers to compare cancer risk and...

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Identifiers

PMID: 42341617
DOI: 10.1016/j.ejca.2026.116874

Genes

BRCA1
BRCA2
CHEK2
ATM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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