A1 Refereed original research article in a scientific journal

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




AuthorsMarmolejo David Humberto, Wong Mark Yu Zheng, Bajalica-Lagercrantz Svetlana, Tischkowitz Marc, Balmaña Judith; extended ERN-GENTURIS Thematic Group 3

PublisherElsevier

Publication year2021

Journal: European Journal of Medical Genetics

Journal name in sourceEUROPEAN JOURNAL OF MEDICAL GENETICS

Journal acronymEUR J MED GENET

Article numberARTN 104350

Volume64

Issue12

Number of pages7

ISSN1769-7212

eISSN1878-0849

DOIhttps://doi.org/10.1016/j.ejmg.2021.104350


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. Riskreducing 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 riskreducing 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.



Last updated on 26/11/2024 08:43:19 PM