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Current Oncology Reports

, 21:85 | Cite as

Germline Genetics and Childhood Cancer: Emerging Cancer Predisposition Syndromes and Psychosocial Impacts

  • Sarah G. Mitchell
  • Bojana Pencheva
  • Christopher C. PorterEmail author
Pediatric Oncology (G Tian, Section Editor)
  • 21 Downloads
Part of the following topical collections:
  1. Topical Collection on Pediatric Oncology

Abstract

Purpose of Review

Germline genetic variants contribute to a substantial proportion of cases of cancer in childhood. The purpose of this review is to describe two emerging pediatric cancer predisposition syndromes, including published surveillance protocols, as well as the psychological impacts related to childhood cancer predisposition.

Recent Findings

DICER1 syndrome is pleotropic, predisposing to a variety of tumors and likely phenotypically broader than currently realized. Rhabdoid tumor predisposition syndrome carries a risk for development of aggressive malignancies occurring in nearly any tissue.

Summary

New pediatric hereditary cancer syndromes are likely to be identified as genetic evaluation evolves. Advantages and disadvantages of genetic testing and surveillance protocols need to be discussed with patients and families in a team-based approach, with the input of a genetic counselor holding expertise in pediatric cancer predisposition. Finally, literature on psychosocial impacts of hereditary cancer syndromes in pediatric patients is sparse, necessitating further research.

Keywords

Cancer predisposition DICER1 Rhabdoid tumor predisposition SMARCB1 SMARCA4 Surveillance 

Notes

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

References

Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Sarah G. Mitchell
    • 1
    • 2
  • Bojana Pencheva
    • 1
    • 2
  • Christopher C. Porter
    • 1
    • 2
    Email author
  1. 1.Aflac Cancer & Blood Disorders CenterChildren’s Healthcare of AtlantaAtlantaUSA
  2. 2.Department of PediatricsEmory University School of MedicineAtlantaUSA

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