Multitiered questions regarding multigene testing for cancer susceptibility
Menée aux Etats-Unis à partir de données portant sur 1,45 million de personnes ayant subi entre 2006 et 2016 un test génétique recherchant des mutations héréditaires prédisposant à certains cancers (âge médian : 49 ans, 96,6 % de femmes), cette étude analyse la proportion de variants dont la signification, jugée initialement incertaine, a été revue (probablement béinin, bénin, probablement pathogène, pathogène)
Expert consensus statements are most helpful when they provide a model for handling questions that arise frequently in clinical practice but for which high-level evidence is lacking. Following the 2013 Supreme Court ruling that invalidated gene patenting,1 there has been a veritable explosion of information regarding a broad spectrum of cancer susceptibility–related genes, some with high penetrance and others with moderate/low risk. Moreover, extent of pathogenicity varies by mutation in each gene. Detecting a deleterious mutation in a high-penetrance gene, such as BRCA1 or BRCA2, can provide patients with opportunities to consider prophylactic oophorectomy for its potential longevity benefits or prophylactic mastectomy for its potential risk-reducing benefits.2 Indeed, existing knowledge regarding actionable mutations has prompted some investigators to recommend population-based testing for pathogenic mutations as a rational as well as cost-efficient public health strategy.3,4
JAMA Surgery , éditorial en libre accès, 2017