Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe

David Humberto Marmolejo, Mark Yu Zheng Wong, Svetlana Bajalica-Lagercrantz, Marc Tischkowitz, Judith Balmaña*, Attila Balázs Patócs, Pierre Chappuis, Chrystelle Colas, Maurizio Genuardi, Maria Haanpää, Hildegunn Hoberg Vetti, Nicoline Hoogerbrugge, Arvids Irmejs, Tiina Kahre, Barbara Klink, Mateja Krajc, Tamara Hussong Milagre, Robin de Putter, Verena Steinke-Lange, Karin WadtKatharina Wimmer, extended ERN-GENTURIS Thematic Group 3

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

26 Citations (Scopus)


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 the absence of consistent evidence for some recommendations.

Original languageEnglish
Article number104350
JournalEuropean Journal of Medical Genetics
Issue number12
Publication statusPublished - Dec 2021
Externally publishedYes


  • BRCA1
  • BRCA2
  • Genetic testing
  • Guidelines
  • Hereditary breast ovarian cancer
  • Surveillance


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