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Genetic Counseling for Childhood Tumors and Inherited Cancer-Predisposing Syndromes

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The Surgery of Childhood Tumors

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Abstract

In this chapter, the general principles regarding the genetic causes of childhood tumors are discussed. In addition, the main features of the more common genetic syndromes associated with childhood tumors are described, together with an outline of the underlying molecular mechanisms. Point mutations and also larger, chromosomal, changes are described. Practical advice is given for genetic counseling in general and more specific advice is provided for many of the syndromes. Details of helpful online sources of the latest information regarding cancer-related syndromes are given. Furthermore, to facilitate rapid access to such information, a freely accessible website is provided by the author, at www.essentialmedgen.com, that acts as a guide and portal to 70 international online resources, categorized according to content. Each internet resource contains detailed, up-to-date information regarding clinical details, testing laboratories, genes, proteins, analysis tools or patient support groups. Such information will provide a useful supplement to that contained herein.

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Websites

  • http://ghr.nlm.nih.gov/. Genetics Home Reference. A large database (based in the USA) of “consumer-friendly” information relating to genetic conditions for families.

  • http://www.cafamily.org.uk/medical-information/conditions/. The UK-based Contact-A-Family directory of conditions. Provides contact details and brief clinical summaries, again designed to be “consumer-friendly” and suitable for families with a child affected by a genetic condition.

  • www.essentialmedgen.com. A website with unrestricted access, originally established to accompany the author’s textbooks, Essential medical genetics (6th edition, 2011) (ref 5 above) and Medical Genetics for the MRCOG and Beyond (2nd edition, 2014). This website provides direct web-links to 70 selected worldwide genetics databases, all categorized for ease of use with straightforward guidance relating to their main purposes. It also contains brief summaries, by the author, of updates and new findings in the field of medical genetics.

  • www.ncbi.nlm.nih.gov/omim. A comprehensive catalogue of genetic disorders (particularly those with a Mendelian inheritance pattern i.e. “single-gene disorders”).

  • www.ncbi.nlm.nih.gov/sites/GeneTests/review?db=GeneTests. A database of generally comprehensive and fairly recently updated reviews on individual genetic syndromes, many of which are tumor-related.

  • http://insight-group.org/variants/database/. The colon cancer gene mutation database, accessible via the website of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT).

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Author information

Authors and Affiliations

  1. Department of Clinical Genetics, Queen Elizabeth University Hospital, University of Glasgow, Laboratory Medicine Building, Glasgow, G51 4TF, Scotland, UK

    Edward S. Tobias BSc, MBChB, PhD, FRCP, FHEA

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  1. Edward S. Tobias BSc, MBChB, PhD, FRCP, FHEA
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Correspondence to Edward S. Tobias BSc, MBChB, PhD, FRCP, FHEA .

Editor information

Editors and Affiliations

  1. Surgical Paediatrics, University of Glasgow, Glasgow, United Kingdom

    Robert Carachi

  2. Indianapolis, Indiana, USA

    Jay L. Grosfeld

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Tobias, E.S. (2016). Genetic Counseling for Childhood Tumors and Inherited Cancer-Predisposing Syndromes. In: Carachi, R., Grosfeld, J. (eds) The Surgery of Childhood Tumors. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-48590-3_5

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