Routine use of gene panel testing in hereditary breast cancer should be performed with caution
Cedric van Marcke1, Anne De Leener2, Martine Berlière3
1King Albert II Cancer Institute, Department of Medical Oncology, Cliniques Universitaires Saint-Luc and Institut de Recherche Clinique et Expérimentale (Pôle MIRO), Université Catholique de Louvain, Brussels, Belgium; Laboratory of Human Molecular Genetics (GEHU), de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
Abstract:
Breast cancer is the most frequent cancer occurring in women. Ten percent of these cancers are considered hereditary. Among them, 30% are attributed to germline mutations in the tumor suppressor genes BRCA1 and BRCA2. Other genes of lower penetrance are also known, explaining together up to 40% of the hereditary risk of breast cancer. New techniques, such as next-generation sequencing, allow the simultaneous analysis of multiple genes in a cost-effective way. As a logical consequence, gene panel testing is entering clinical practice with the promise of personalized care. We however advocate that gene panel testing is not ready for non-specialist clinical use, as it generates many variants of unknown significance and includes more genes than are presently considered clinically useful. We hereby review the data for each gene that can change the risk management of patients carrying a pathogenic variant.
