Advances in Genetic Testing in Patients With Breast Cancer, High-Quality Decision Making, and Responsible Resource Allocation
Menée à partir de données portant sur 959 patientes atteintes d'un cancer du sein, cette étude analyse la pertinence des recommandations 2017 du "National Comprehensive Cancer Network" (NCCN) pour identifier, parmi les patientes atteintes d'un cancer du sein, celles pouvant bénéficier d'un test génétique recherchant, dans un panel de 80 gènes (dont 11 référencés par le NCCN), des variants héréditaires associés à la maladie
Since the initial discovery that germline pathogenic variants in BRCA1/2 genes increase susceptibility to breast, ovarian, and other cancers, additional genes have been discovered that increase cancer risk. Multigene panel testing is gradually replacing BRCA1/2-only testing1 as a result of the expanded information provided and the ever-decreasing cost. In addition, benefits of increased access to testing are far reaching and represent one step toward closing the gap in genetic testing in women who meet the guidelines for such testing.
Journal of Clinical Oncology , éditorial en libre accès, 2017