Brodeur GM, Nichols KE, Plon SE, Schiffman JD, Malkin D. Pediatric cancer predisposition and surveillance: an overview, and a tribute to Alfred G Knudson Jr. Clin Cancer Res. 2017;23:e1-5.
Article PubMed PubMed Central Google Scholar
Ripperger T, Bielack SS, Borkhardt A, Brecht IB, Burkhardt B, Calaminus G, et al. Childhood cancer predisposition syndromes-a concise review and recommendations by the cancer predisposition working group of the society for pediatric oncology and hematology. Am J Med Genet A. 2017;173:1017–37.
Schiffman JD, Geller JI, Mundt E, Means A, Means L, Means V. Update on pediatric cancer predisposition syndromes. Pediatr Blood Cancer. 2013;60:1247–52.
Kratz CP, Jongmans MC, Cave H, Wimmer K, Behjati S, Guerrini-Rousseau L, et al. Predisposition to cancer in children and adolescents. Lancet Child Adolesc Health. 2021;5:142–54.
Nakano Y, Rabinowicz R, Malkin D. Genetic predisposition to cancers in children and adolescents. Curr Opin Pediatr. 2023;35:55–62.
Kuhlen M, Hofmann TG, Golas MM. Puzzling phenomenon: adult-onset cancer predisposition and pediatric cancer. Trends Cancer. 2024;10:481–5.
Article CAS PubMed Google Scholar
Bakhuizen JJ, Hopman SMJ, Bosscha MI, Dommering CJ, van den Heuvel-Eibrink MM, Hol JA, et al. Assessment of cancer predisposition syndromes in a national cohort of children with a neoplasm. JAMA Netw Open. 2023;6:e2254157.
Article PubMed PubMed Central Google Scholar
Byrjalsen A, Hansen TVO, Stoltze UK, Mehrjouy MM, Barnkob NM, Hjalgrim LL, et al. Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes. PLoS Genet. 2020;16:e1009231.
Article CAS PubMed PubMed Central Google Scholar
Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015;373:2336–46.
Article CAS PubMed PubMed Central Google Scholar
Diets IJ, Waanders E, Ligtenberg MJ, van Bladel DAG, Kamping EJ, Hoogerbrugge PM, et al. High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer. Clin Cancer Res. 2018;24:1594–603.
Article CAS PubMed Google Scholar
Wagener R, Taeubner J, Walter C, Yasin L, Alzoubi D, Bartenhagen C, et al. Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer. Eur J Hum Genet. 2021;29:1301–11.
Article CAS PubMed PubMed Central Google Scholar
Alba-Pavon P, Alana L, Gutierrez-Jimeno M, Garcia-Obregon S, Imizcoz T, Panizo E, et al. Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing. Sci Rep. 2023;13:2959.
Article CAS PubMed PubMed Central Google Scholar
Goudie C, Coltin H, Witkowski L, Mourad S, Malkin D, Foulkes WD. The McGill Interactive Pediatric OncoGenetic Guidelines: an approach to identifying pediatric oncology patients most likely to benefit from a genetic evaluation. Pediatr Blood Cancer. 2017;64.
Kuhlen M, Fruhwald MC, Dunstheimer DPA, Vorwerk P, Redlich A. Revisiting the genotype-phenotype correlation in children with medullary thyroid carcinoma: a report from the GPOH-MET registry. Pediatr Blood Cancer. 2020;67:e28171.
Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium “care for CMMRD” (C4CMMRD). J Med Genet. 2014;51:355–65.
Article CAS PubMed Google Scholar
Winship IM, Dudding TE. Lessons from the skin–cutaneous features of familial cancer. Lancet Oncol. 2008;9:462–72.
Redlich A, Lessel L, Petrou A, Mier P, Vorwerk P. Multiple endocrine neoplasia type 2B: frequency of physical stigmata-results of the GPOH-MET registry. Pediatr Blood Cancer. 2020;67:e28056.
Plamper M, Gohlke B, Woelfle J. PTEN hamartoma tumor syndrome in childhood and adolescence-a comprehensive review and presentation of the German pediatric guideline. Mol Cell Pediatr. 2022;9:3.
Article PubMed PubMed Central Google Scholar
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23:1506–13.
Article PubMed PubMed Central Google Scholar
Druker H, Zelley K, McGee RB, Scollon SR, Kohlmann WK, Schneider KA, et al. Genetic counselor recommendations for cancer predisposition evaluation and surveillance in the pediatric oncology patient. Clin Cancer Res. 2017;23:e91–7.
Achatz MI, Porter CC, Brugieres L, Druker H, Frebourg T, Foulkes WD, et al. Cancer screening recommendations and clinical management of inherited gastrointestinal cancer syndromes in childhood. Clin Cancer Res. 2017;23:e107–14.
Evans DGR, Salvador H, Chang VY, Erez A, Voss SD, Druker H, et al. Cancer and central nervous system tumor surveillance in pediatric neurofibromatosis 2 and related disorders. Clin Cancer Res. 2017;23:e54–61.
Article CAS PubMed Google Scholar
Foulkes WD, Kamihara J, Evans DGR, Brugieres L, Bourdeaut F, Molenaar JJ, et al. Cancer surveillance in gorlin syndrome and rhabdoid tumor predisposition syndrome. Clin Cancer Res. 2017;23:e62–7.
Article CAS PubMed PubMed Central Google Scholar
Greer MC, Voss SD, States LJ. Pediatric cancer predisposition imaging: focus on whole-body MRI. Clin Cancer Res. 2017;23:e6–13.
Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, et al. Surveillance recommendations for children with overgrowth syndromes and predisposition to wilms tumors and hepatoblastoma. Clin Cancer Res. 2017;23:e115–22.
Article CAS PubMed PubMed Central Google Scholar
Kamihara J, Bourdeaut F, Foulkes WD, Molenaar JJ, Mosse YP, Nakagawara A, et al. Retinoblastoma and neuroblastoma predisposition and surveillance. Clin Cancer Res. 2017;23:e98–106.
Article CAS PubMed PubMed Central Google Scholar
Kratz CP, Achatz MI, Brugieres L, Frebourg T, Garber JE, Greer MC, et al. Cancer screening recommendations for individuals with Li-Fraumeni syndrome. Clin Cancer Res. 2017;23:e38–45.
Article CAS PubMed Google Scholar
Malkin D, Nichols KE, Schiffman JD, Plon SE, Brodeur GM. The future of surveillance in the context of cancer predisposition: through the Murky looking glass. Clin Cancer Res. 2017;23:e133–7.
Article PubMed PubMed Central Google Scholar
Porter CC, Druley TE, Erez A, Kuiper RP, Onel K, Schiffman JD, et al. Recommendations for surveillance for children with Leukemia-predisposing conditions. Clin Cancer Res. 2017;23:e14–22.
Rednam SP, Erez A, Druker H, Janeway KA, Kamihara J, Kohlmann WK, et al. Von Hippel-Lindau and hereditary pheochromocytoma/paraganglioma syndromes: clinical features, genetics, and surveillance recommendations in childhood. Clin Cancer Res. 2017;23:e68–75.
Article CAS PubMed Google Scholar
Tabori U, Hansford JR, Achatz MI, Kratz CP, Plon SE, Frebourg T, et al. Clinical management and tumor surveillance recommendations of inherited mismatch repair deficiency in childhood. Clin Cancer Res. 2017;23:e32–7.
Villani A, Greer MC, Kalish JM, Nakagawara A, Nathanson KL, Pajtler KW, et al. Recommendations for cancer surveillance in individuals with RASopathies and other rare genetic conditions with increased cancer risk. Clin Ca
留言 (0)