[Germ line mutations causing paediatric cancer predisposition syndromes are common in children and adolescents with cancer].
Ugeskr Laeger. 2018 Apr 23;180(17):
Authors: Stoltze UK, Byrjalsen A, Hjalgrim LL, Wahlberg A, Gupta R, Gerdes AM, Wadt K, Schmiegelow K
Germ line mutations causing paediatric cancer predisposition syndromes (PCPSs) are more common than previously anticipated and are now recognised 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, which WGS may reveal in patients with childhood cancers, and highlights the clinical and psychosocial impact of PCPSs.
PMID: 29717702 [PubMed – in process]