Kræftdisponerende mutationer er hyppige hos børn og unge med kræft
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Kræftdisponerende mutationer er hyppige hos børn og unge med kræft. / Stoltze, Ulrik Kristoffer; Byrjalsen, Anna; Hjalgrim, Lisa Lyngsie; Wahlberg, Ayo; Gupta, Ramneek; Gerdes, Anne-Marie; Wadt, Karin; Schmiegelow, Kjeld.
In: Ugeskrift for Laeger, Vol. 180, No. 17, V07170566, 2018.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Kræftdisponerende mutationer er hyppige hos børn og unge med kræft
AU - Stoltze, Ulrik Kristoffer
AU - Byrjalsen, Anna
AU - Hjalgrim, Lisa Lyngsie
AU - Wahlberg, Ayo
AU - Gupta, Ramneek
AU - Gerdes, Anne-Marie
AU - Wadt, Karin
AU - Schmiegelow, Kjeld
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
KW - Adolescent
KW - Child
KW - Genetic Predisposition to Disease
KW - Germ-Line Mutation
KW - Humans
KW - Neoplasms/diagnosis
KW - Syndrome
KW - Whole Genome Sequencing
M3 - Tidsskriftartikel
C2 - 29717702
VL - 180
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
SN - 0041-5782
IS - 17
M1 - V07170566
ER -
ID: 221831003