Recommendations for childhood cancer screening and surveillance in DNA repair disorders

Michael F. Walsh, Vivian Y. Chang, Wendy K. Kohlmann, Hamish S. Scott, Christopher M Cunniff, Franck Bourdeaut, Jan J. Molenaar, Christopher C. Porter, John T. Sandlund, Sharon E. Plon, Lisa L. Wang, Sharon A. Savage

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)e23-e31
JournalClinical Cancer Research
Volume23
Issue number11
DOIs
StatePublished - Jun 1 2017
Externally publishedYes

Fingerprint

Early Detection of Cancer
DNA Repair
Neoplasms
Rothmund-Thomson Syndrome
Dyskeratosis Congenita
Nijmegen Breakage Syndrome
Bloom Syndrome
Fanconi Anemia
Xeroderma Pigmentosum
Ataxia Telangiectasia
DNA Replication
DNA Damage
Registries
Referral and Consultation
Guidelines
Education
Incidence
Research
Proteins

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

Walsh, M. F., Chang, V. Y., Kohlmann, W. K., Scott, H. S., Cunniff, C. M., Bourdeaut, F., ... Savage, S. A. (2017). Recommendations for childhood cancer screening and surveillance in DNA repair disorders. Clinical Cancer Research, 23(11), e23-e31. https://doi.org/10.1158/1078-0432.CCR-17-0465

Recommendations for childhood cancer screening and surveillance in DNA repair disorders. / Walsh, Michael F.; Chang, Vivian Y.; Kohlmann, Wendy K.; Scott, Hamish S.; Cunniff, Christopher M; Bourdeaut, Franck; Molenaar, Jan J.; Porter, Christopher C.; Sandlund, John T.; Plon, Sharon E.; Wang, Lisa L.; Savage, Sharon A.

In: Clinical Cancer Research, Vol. 23, No. 11, 01.06.2017, p. e23-e31.

Research output: Contribution to journalArticle

Walsh, MF, Chang, VY, Kohlmann, WK, Scott, HS, Cunniff, CM, Bourdeaut, F, Molenaar, JJ, Porter, CC, Sandlund, JT, Plon, SE, Wang, LL & Savage, SA 2017, 'Recommendations for childhood cancer screening and surveillance in DNA repair disorders', Clinical Cancer Research, vol. 23, no. 11, pp. e23-e31. https://doi.org/10.1158/1078-0432.CCR-17-0465
Walsh, Michael F. ; Chang, Vivian Y. ; Kohlmann, Wendy K. ; Scott, Hamish S. ; Cunniff, Christopher M ; Bourdeaut, Franck ; Molenaar, Jan J. ; Porter, Christopher C. ; Sandlund, John T. ; Plon, Sharon E. ; Wang, Lisa L. ; Savage, Sharon A. / Recommendations for childhood cancer screening and surveillance in DNA repair disorders. In: Clinical Cancer Research. 2017 ; Vol. 23, No. 11. pp. e23-e31.
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