[Genetic predisposition to breast cancer]

Over the past 30 years, since the identification of the BRCA1 and BRCA2 genes, the panorama of breast cancer predisposition tests has continued to evolve: today, ultra-high-throughput sequencing enables the study of eight predisposition genes, and indications are constantly expanding, with the new entry point being the identification of BRCA1/2 alterations in tumors, 75% of which are of constitutional origin. While these tests can be used to provide appropriate preventive treatment in cases where risk factors have been identified, many challenges remain to be met: identification of new predisposition genes, or rather validation of candidate genes such as ATM, detection of new modes of inactivation of genes already included in the diagnosis (remote deletions, epigenetic modifications), classification of variants of unknown significance as pathogenic or benign, and identification and inclusion of modifying factors, whether genetic or not, in multifactorial risk models. Patients and their relatives have played, and continue to play, a major role in the development of oncogenetics. We owe them quality tests, information, support and protection.