Genetic control of tumor development in malformation syndromes

Floor A. M. Postema, Jan C. Oosterwijk, Raoul C. Hennekam*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

One of the questions that arises frequently when caring for an individual with a malformation syndrome, is whether some form of tumor surveillance is indicated. In some syndromes there is a highly variable increased risk to develop tumors, while in others this is not the case. The risks can be hard to predict and difficult to explain to affected individuals and their families, and often also to caregivers. The queries arise especially if syndrome causing mutations are also known to occur in tumors. It needs insight in the mechanisms to understand and explain differences of tumor occurrence, and to offer optimal care to individuals with syndromes. Here we provide a short overview of the major mechanisms of the control for tumor occurrences in malformation syndromes.

Original languageEnglish
Pages (from-to)1-12
Number of pages12
JournalAmerican Journal of Medical Genetics. Part A
Issue number2
DOIs
Publication statusPublished - 3-Nov-2020

Keywords

  • cancer
  • CNVs
  • epigenetics
  • genetic compensation
  • mosaicism
  • tumor predisposition syndrome
  • COPY NUMBER
  • RET PROTOONCOGENE
  • CANCER
  • MUTATIONS
  • SUPPRESSOR
  • PHENOTYPE
  • COMPENSATION
  • SURVEILLANCE
  • PATHOGENESIS
  • EPIGENETICS

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