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Review
. 2023 Feb 1;35(1):55-62.
doi: 10.1097/MOP.0000000000001197. Epub 2022 Nov 10.

Genetic predisposition to cancers in children and adolescents

Yoshiko Nakano  1   2 , Ron Rabinowicz  1   2 , David Malkin  1   2
Affiliations
Review

Genetic predisposition to cancers in children and adolescents

Yoshiko Nakano et al. Curr Opin Pediatr. .

Abstract

Purpose of review: Childhood cancer is rare, but it remains the leading cause of disease-related mortality among children 1-14 years of age. As exposure to environmental factors is lower in children, inherited genetic factors become an important player in the cause of childhood cancer. This review highlights the current knowledge and approach for cancer predisposition syndromes in children.

Recent findings: Current literature suggests that 10-18% of paediatric cancer patients have an underlying genetic susceptibility to their disease. With better knowledge and technology, more genes and syndromes are being discovered, allowing tailored treatment and surveillance for the probands and their families.Studies have demonstrated that focused surveillance can detect early malignancies and increase overall survival in several cancer predisposition syndromes. Various approaches have been proposed to refine early tumour detection strategies while minimizing the burden on patients and families. Newer therapeutic strategies are being investigated to treat, or even prevent, tumours in children with cancer predisposition.

Summary: This review summarizes the current knowledge about different cancer predisposition syndromes, focusing on the diagnosis, genetic counselling, surveillance and future directions.

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References

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    1. Newman S, Nakitandwe J, Kesserwan CA, et al. Genomes for kids: the scope of pathogenic mutations in pediatric cancer revealed by comprehensive DNA and RNA sequencing. Cancer Discov 2021; 11:3008–3027.
    1. Malkin D, Nichols KE, Schiffman JD, et al. The future of surveillance in the context of cancer predisposition: through the Murky looking glass. Clin Cancer Res 2017; 23:e133–e137.
    1. Kratz CP, Jongmans MC, Cavé H, et al. Predisposition to cancer in children and adolescents. Lancet Child Adolesc Health 2021; 5:142–154.

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