Germline Genetics and Childhood Cancer: Emerging Cancer Predisposition Syndromes and Psychosocial Impacts
Author:
Publisher
Springer Science and Business Media LLC
Subject
Oncology
Link
http://link.springer.com/content/pdf/10.1007/s11912-019-0836-9.pdf
Reference55 articles.
1. Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med. 1969;71(4):747–52.
2. •• Zhang J, Walsh MF, Wu G, et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015;373(24):2336–46 This large-scale sequencing study involving 1120 children and adolescents with cancer identified germline mutations in cancer predisposition genes in 8.5% of patients. Further, family history did not predict an underlying predisposition syndrome for most patients.
3. Parsons DW, Roy A, Yang Y, et al. 2016 Diagnostic yield of clinical tumor and germline whole-exome sequencing for children with solid tumors. JAMA Oncol. 2016;2(5):616–24.
4. Mody RJ, Wu YM, Lonigro RJ, Cao X, Roychowdhury S, Vats P, et al. Integrative clinical sequencing in the management of refractory or relapsed Cancer in youth. JAMA. 2015;314(9):913–25.
5. •• Villani A, Shore A, Wasserman JD, et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. Lancet Oncol. 2016;17(9):1295–305 This prospective, observational study showed feasibility of a long-term comprehensive surveillance protocol for patients with Li-Fraumeni syndrome as well as improved 5-year overall survival for those patients who chose to participate in the surveillance protocol.
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