Abstract

Pediatric cancer genetic counseling sessions are comprised of the same components as general cancer counseling. This chapter discusses the counseling issues specific to pediatric cancer and illustrates the counseling process with two case examples. Pediatric cancer genetic counseling is the intersection between cancer genetics and pediatric genetics. The chapter also discusses the features of 20 childhood cancer syndromes, including diagnostic criteria, associated tumor risks, other clinical features, and management recommendations. The first 10 syndromes are: Ataxia-telangiectasia; Autoimmune lymphoproliferative syndrome; Beckwith Weidemann syndrome; Bloom syndrome; Constitutional mismatch repair deficiency; Diamond Blackfan anemia; DICER1 tumor predisposition syndrome; Dyskeratosis congenita; Fanconi anemia; and Juvenile polyposis. The next 10 syndromes are: Leukemia, familial; Li-Fraumeni syndrome; Neuroblastoma, familial; Retinoblastoma, hereditary; Rhabdoid tumor predisposition syndrome; Rothmund-Thomson syndrome; Schwachman-Diamond syndrome; Tuberous sclerosis complex; WT1-related syndromes; and Xeroderma pigmentosum.

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