Childhood Cancer Predisposition

Johannes H.M. Merks, Illja Diets, Ines B. Brecht, Marjolijn Cj Jongmans

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

In around 10% of children with cancer, a cancer predisposition syndrome (CPS) is present. Children with such a syndrome have a germline pathogenic variant in a cancer predisposition gene, which leads to an increased risk of developing cancer. It is of utmost importance to recognize whether a child has a hereditary CPS. First, the presence of a CPS might lead to changes in cancer treatment. Second, children with a CPS can be at risk of developing additional primary malignancies, requiring the need for surveillance. Third, the CPS may also be present in family members of the child with cancer in some cases, and fourth, a CPS may include non-cancer-related problems like behavioral or immunologic disorders that may need specific attention and care. Different referral tools that help to select children with cancer in whom the suspicion of a CPS is particularly high are discussed. Subsequently, diagnostic options for the clinical geneticist are discussed, ranging from targeted genetic tests to exome- or genome-wide analysis. Finally the care for children with cancer predisposition syndromes is briefly summarized.

Original languageEnglish
Title of host publicationPediatric Oncology
PublisherSpringer Science and Business Media Deutschland GmbH
Pages31-36
Number of pages6
DOIs
Publication statusPublished - 2022

Publication series

NamePediatric Oncology
ISSN (Print)1613-5318
ISSN (Electronic)2191-0812

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