Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.

ABSTRACT:

Importance

To improve diagnostics of cancer predisposition syndromes (CPSs) in children with cancer, it is essential to evaluate the effect of CPS gene sequencing among all children with cancer and compare it with genetic testing based on clinical selection. However, a reliable comparison is difficult because recent reports on a phenotype-first approach in large, unselected childhood cancer cohorts are lacking.

Objective

To describe a national children's cancer center's experience in diagnosing CPSs before introducing routine next-generation sequencing.

Design, setting, and participants

This retrospective cohort study was conducted at the National Retinoblastoma Treatment Center (Amsterdam, the Netherlands) and the Princess Máxima Center for Pediatric Oncology (Utrech

SUBMITTER: Bakhuizen JJ 

PROVIDER: S-EPMC9898819 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature