Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe
Abstract
Hereditary breast and ovarian cancer (HBOC) is a syndrome defined by an increased risk of developing breast and/or ovarian cancer most commonly due to germline disease-causing variants in the BRCA1 and BRCA2 genes, but also other causative genes such as PALB2, ATM and CHEK2. As genetic testing becomes more prevalent and new clinical data emerge, updates of national guidelines are required to incorporate these advances in our knowledge. The aim of this work is to review the guidelines for HBOC genetic testing and clinical surveillance across European countries, mostly affiliated to the European Reference Network (ERN) for Genetic Tumor Risk Syndroms (GENTURIS). Young onset breast cancer (BC), triple negative phenotype, or bilateral BC are considered as criteria for genetic testing in all, with differences in age limits. Testing of invasive epithelial non-mucinous ovarian cancer is also universally accepted. While breast magnetic resonance imaging (MRI) is consistently recommended in high-risk individuals, age of onset for mammograms differ between 30 and 40 years. Risk-reducing mastectomy is commonly offered as an option, while risk-reducing salpingo-oophorectomy is universally recommended. The largest differences are observed with respect to ovarian surveillance prior to risk-reducing salpingo-oophorectomy and in breast surveillance for carriers of non-BRCA1/2 genes. These differences in national guidelines reflect the variations in clinical consensus that may be reached in t…
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Current guidelines suggest that BRCA2 carriers may delay oophorectomy until age 45, while most recommend earlier oophorectomy for BRCA1 carriers.
“While current guidelines suggest that BRCA2 carriers may delay oophorectomy until age 45, most recommend earlier oophorectomy for BRCA1 carriers [51].”
From Screening, Risk Reduction Strategies, and Clinical Management of Unaffected Carriers of <i>BRCA1</i> or <i>BRCA2</i> Pathogenic Variants (2026) · cites this paper as [51]
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- Authors
- Marmolejo, D. H., Wong, M. Y. Z., Bajalica-Lagercrantz, S., Tischkowitz, M., Balmaña, J., Patócs, A. B., Chappuis, P., Colas, C., Genuardi, M., Haanpää, M., Vetti, H. H., Hoogerbrugge, N., Irmejs, A., Kahre, T., Klink, B., Krajc, M., Milagre, T. H., de Putter, R., Steinke-Lange, V., Wadt, K., & Wimmer, K.
- Affiliations
- Vall d'Hebron Hospital Universitari (ES)
- University of Cambridge (GB)
- ORCID
- Venue
- European Journal of Medical Genetics
- Publisher
- Elsevier BV
- Published
- 2021-12
- Volume
- 64
- Issue
- 12
- Pages
- 104350
- ISSN
- 1769-7212 (ISSN-L)
- OpenAlex
- W3203159454
- Cited by
- 67
- References
- 29
- Citations by year
- 2026: 11 · 2025: 16 · 2024: 18 · 2023: 15 · 2022: 6 · 2021: 1
- FWCI
- 1.50
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- European Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- European Commission
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Pathology and Forensic Medicine › Breast Lesions and Carcinomas
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- hereditary breast and ovarian cancer, BRCA1, BRCA2, PALB2, ATM, CHEK2, germline pathogenic variants, genetic testing, clinical surveillance, early-onset breast cancer, triple-negative breast cancer, bilateral breast cancer, breast MRI, prophylactic mastectomy, risk-reducing salpingo-oophorectomy, European countries
- MeSH terms
- Breast Neoplasms, Europe, Female, Genetic Testing, Humans, Mastectomy, Ovarian Neoplasms, Genetic Predisposition to Disease
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