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.

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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
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article

P305: CHEK2 and pediatric cancer predisposition

Miriam Bornhorst, Joyce Turner, Sandy Middleton
Genetics in Medicine Open
BRCA gene mutations in cancer
article

P305: CHEK2 and pediatric cancer predisposition

Miriam Bornhorst, Joyce Turner, Sandy Middleton
article en

Abstract

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.

Genetics in Medicine OpenVol. 3
Lurie Children's Hospital (US), National Hospital (IN)
Openalex Percentile: Top 94%
BRCA gene mutations in cancer
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