Childhood cancer predisposition study: a prospective registry and biorepository protocol

Area of Science:

• Pediatric Oncology
• Clinical Genetics
• Cancer Genomics

Background:

• Childhood cancer is a leading cause of disease-related mortality in children.
• Over 15% of children with cancer have a germline pathogenic variant in a cancer predisposition gene.
• Cancer predisposition syndromes (CPSs) are individually rare, hindering research and personalized care.

Purpose of the Study:

• To characterize the natural history of each CPS.
• To correlate CPS genotype with phenotype and evaluate surveillance strategies.
• To investigate barriers to adherence to surveillance guidelines.

Main Methods:

• The Childhood Cancer Predisposition Study (CCPS) is a multi-center registry and biorepository for children (0-21 years) with confirmed CPS.
• Data includes CPS details, genomic data, cancer history, and surveillance information.
• Germline DNA samples are collected, with optional serial blood and stool samples.

Main Results:

• The study will determine if adherence to surveillance guidelines leads to earlier tumor detection and improved survival.
• Barriers to surveillance adherence will be identified.
• Genotype-phenotype associations will be elucidated to move beyond a 'one size fits all' approach.

Conclusions:

• Improved understanding of CPS natural history and genotype-phenotype correlations is crucial for personalized pediatric cancer care.
• Optimizing surveillance strategies can lead to earlier cancer detection and better outcomes for children with CPS.
• The CCPS aims to provide data for future investigations into novel surveillance approaches.