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Kræftdisponerende mutationer er hyppige hos børn og unge med kræft

Forfatter(e)

Ulrik Kristoffer Stoltze1, Anna Byrjalsen2, Lisa Lyngsie Hjalgrim3, Ayo Wahlberg1, Ramneek Gupta4, Anne-Marie Gerdes2, Karin Wadt2 & Kjeld Schmiegelow1

1) Bonkolab, Rigshospitalet 2) Klinisk Genetisk Klinik, Rigshospitalet 3) BørneUngeKlinikken, Rigshospitalet 4) DTU – CBS Ugeskr Læger 2018;180:V07170566

Reference: 
Ugeskr Læger 2018;180:V07170566
Blad nummer: 
Sidetal: 
2-7
Germline mutations causing paediatric cancer predisposition syndromes are common in children and adolescents with cancer

Germline mutations causing paediatric cancer predisposition syndromes (PCPSs) are more common than previously anticipated and are now recognized as a significant contributor to the incidence of childhood cancer. Advances in and increased clinical application of next-generation sequencing technologies have led to a rise in paediatric patients undergoing whole genome sequencing (WGS). This review focuses on the potential syndromes/diagnoses that WGS may reveal in patients with childhood cancers and highlights the clinical and psychosocial impact of PCPSs.

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