Note: Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders
Note: Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders doi: 10.1158/1078-0432.CCR-17-0465 DNA repair syndromes Defective in DNA replication Defective in DNA damage response Majority of DNA repair syndrome Inherited - autosomal-recessive manner Minor of DNA repair syndrome Autosomal dominant X-linked recessive Clinical features Highly varied depending on underlying genetic cause Higher risk in cancer Can be found in childhood No clear evidence-based approaches This paper Want to develop guidelines for children with cancer-prone disorder Focus more common rare DNA repair disorders ataxia telangiectasia, Bloom syndrome, Fanconi anemia, dyskeratosis congenita, Nijmegen breakage syndrome, Rothmund–Thomson syndrome, Xeroderma pigmentosum. Conclusion Recommended -- centralized centers of excellence in caring patients with heritable DNA repair Observation Defect in DNA repair disorders Diagnosed in childhood Aberrant telomere Manifest lat...