P305: CHEK2 and pediatric cancer predisposition
Cell cycle checkpoint kinase 2 (CHK2) plays a role in cell cycle arrest, which is activated in response to DNA damage. Variants in the CHEK2 gene are autosomal dominantly inherited, and historically have been associated with adult-onset cancer predisposition, particularly low to moderate risk breast cancer (20%-40%). As such, pediatric oncology patients and their siblings are not frequently tested for mutations in this gene, and therefore, less is known about the role it plays in pediatric cancer predisposition.
Authors
- Miriam Bornhorst (ORCID: https://orcid.org/0000-0002-7595-7726)
- Joyce Turner
- Sandy Middleton (ORCID: https://orcid.org/0000-0002-7201-4394)
Institutions
- Lurie Children's Hospital (US)
- National Hospital (IN)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102270
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00