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January 26, 2016European Journal of Medical Genetics192 citationsOpen Access

Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool

MJMarjolijn C.J. JongmansJLJan LoeffenEWEsmé Waanders

Key Points

  • To develop an accessible clinical selection tool based on pediatric cancer predisposition syndromes to facilitate timely referral of high-risk patients to clinical geneticists.
  • Conducted a systematic review of known pediatric cancer predisposing syndromes to extract clinical risk indicators and screening criteria.
  • Developed a five-question selection tool evaluating family history, malignancy type, multiple primary tumors, specific syndrome-related features, and excessive treatment toxicity.
  • Established clinical pathways for identifying patients who require altered therapy regimens, future malignancy screening protocols, and familial reproductive counseling.

Abstract

Genetic predisposition for childhood cancer is under diagnosed. Identifying these patients may lead to therapy adjustments in case of syndrome-related increased toxicity or resistant disease and syndrome-specific screening programs may lead to early detection of a further independent malignancy. Cancer surveillance might also be warranted for affected relatives and detection of a genetic mutation can allow for reproductive counseling. Here we present an easy-to-use selection tool, based on a systematic review of pediatric cancer predisposing syndromes, to identify patients who may benefit from genetic counseling. The selection tool involves five questions concerning family history, the type of malignancy, multiple primary malignancies, specific features and excessive toxicity, which results in the selection of those patients that may benefit from referral to a clinical geneticist.

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Cite This Study

Jongmans et al. (2016) studied this question.

synapsesocial.com/papers/6a85d19229c064ccb286ccdchttps://doi.org/10.1016/j.ejmg.2016.01.008
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