Association of Germline BRCA2 Mutations With the Risk of Pediatric or Adolescent Non–Hodgkin Lymphoma
Menée à l'aide du séquençage du génome entier de 1 380 personnes ayant survécu à un lymphome diagnostiqué durant l'enfance (âge médian au diagnostic : 13,4 ans), cette étude identifie 13 mutations constitutionnelles de BRCA associées au risque de développer la maladie
In a previous report from the St Jude Lifetime (SJLIFE) study, BRCA2 (GenBank U43746.1) was the third most frequently mutated gene (14 occurrences) among 3006 survivors of childhood cancer, with the highest number observed among survivors of lymphoma (7 [1.2%] of 586). To further investigate BRCA2 as a potential predisposition gene for pediatric or adolescent lymphoma, we analyzed 794 additional survivors of lymphoma from the SJLIFE study and Childhood Cancer Survivor Study cohorts, using whole-genome sequencing data.
JAMA Oncology 2019