Panel Testing Is Not a Panacea
Menée à partir d'échantillons tumoraux prélevés sur 488 patientes atteintes d'un cancer du sein de stade I à III (âge moyen au diagnostic : 50,3 ans), cette étude analyse la fréquence de mutations constitutionnelles dans 25 gènes prédisposant à des cancers, puis identifie les facteurs prédictifs associés à la présence de ces mutations
Panel testing for inherited cancer predisposition is rapidly becoming the norm. Evidence is mounting that many of the cancer-associated genes have substantially overlapping, and often clinically indistinguishable, phenotypes. Next-generation sequencing technologies now allow for analysis of many genes simultaneously, and testing platforms are easily and inexpensively expanded with each new gene discovery. Therefore, there is an undeniable economical advantage to panel testing, but the extent of the clinical advantage remains elusive. As such, many recent studies have explored this issue.
In an article accompanying this editorial, Thompson et al1 use a case-control approach to assess mutation frequency in 18 genes that were specifically included due to an association with increased risk for breast cancer. Beyond BRCA1 and BRCA2, a significant excess of mutations was also detected in the PALB2 and TP53 genes. By comparison, mutations in NBN and RAD50 were actually more prevalent among controls than cases. Overall, the vast majority of genes included in their study, which are on current commercial breast cancer panels, failed to explain most of the excess genetic risk beyond BRCA1 and BRCA2.
Journal of Clinical Oncology , éditorial en libre accès, 2016