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Author Notes:

Corresponding authors: Sharon A. Savage, M.D., Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Room 6E456, Bethesda, MD 20892-9772, savagesh@mail.nih.gov, Tel: 240-276-7252; Michael F. Walsh, M.D., FAAP, FACMG, Departments of Medicine and Pediatrics, Divisions of Solid Tumor and Clinical Genetics, 222 70th Street, RM 412, New York, NY 10021, walshm2@mskcc.org, Tel: 646-888-4113

We thank Michael Powell, Jocelyn Voorhees and the American Association for Cancer Research for organizing this meeting.

The authors declare no potential conflicts of interest.


Research Funding:

The work of S.A.S. is supported by the intramural research program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute.

The work of M.F.W. is supported by the Niehaus Center for Inherited Cancer Genomics and The V Foundation for Cancer Research grant number #2015–003.


  • Science & Technology
  • Life Sciences & Biomedicine
  • Oncology

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders

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Journal Title:

Clinical Cancer Research


Volume 23, Number 11


, Pages E23-E31

Type of Work:

Article | Post-print: After Peer Review


DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomalrecessive manner, but autosomal-dominant and X-linked recessive disorders also exist. The clinical features of patients withDNA repair syndromes are highly varied and dependent on the underlying genetic cause. Notably, all patients have elevated risks of syndrome-associated cancers, and many of these cancers present in childhood. Although it is clear that the risk of cancer is increased, there are limited data defining the true incidence of cancer and almost no evidence-based approaches to cancer surveillance in patients with DNA repair disorders. This article is the product of the October 2016 AACR Childhood Cancer Predisposition Workshop, which brought together experts from around the world to discuss and develop cancer surveillance guidelines for children with cancer-prone disorders. Herein, we focus on the more common of the rare DNA repair disorders: ataxia telangiectasia, Bloom syndrome, Fanconi anemia, dyskeratosis congenita, Nijmegen breakage syndrome, Rothmund-Thomson syndrome, and Xeroderma pigmentosum. Dedicated syndrome registries and a combination of basic science and clinical research have led to important insights into the underlying biology of these disorders. Given the rarity of these disorders, it is recommended that centralized centers of excellence be involved directly or through consultation in caring for patients with heritable DNA repair syndromes.

Copyright information:

© 2017 American Association for Cancer Research.

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