Kræftdisponerende mutationer er hyppige hos børn og unge med kræft

Ulrik Kristoffer Stoltze; Anna Byrjalsen; Lisa Lyngsie Hjalgrim; Ayo Wahlberg; Ramneek Gupta; Anne-Marie Gerdes; Karin Wadt; Kjeld Schmiegelow

Kræftdisponerende mutationer er hyppige hos børn og unge med kræft

Translated title of the contribution: Germ line mutations causing paediatric cancer predisposition syndromes are common in children and adolescents with cancer

Ulrik Kristoffer Stoltze, Anna Byrjalsen, Lisa Lyngsie Hjalgrim, Ayo Wahlberg, Ramneek Gupta, Anne-Marie Gerdes, Karin Wadt, Kjeld Schmiegelow

Department of Clinical Medicine

Abstract

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.

Translated title of the contribution	Germ line mutations causing paediatric cancer predisposition syndromes are common in children and adolescents with cancer
Original language	Danish
Article number	V07170566
Journal	Ugeskrift for Laeger
Volume	180
Issue number	17
Number of pages	6
ISSN	0041-5782
Publication status	Published - 2018

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http://ugeskriftet.dk/videnskab/kraeftdisponerende-mutationer-er-hyppige-hos-boern-og-unge-med-kraeft

Cite this

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title = "Kr{\ae}ftdisponerende mutationer er hyppige hos b{\o}rn og unge med kr{\ae}ft",

abstract = "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.",

keywords = "Adolescent, Child, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Neoplasms/diagnosis, Syndrome, Whole Genome Sequencing",

author = "Stoltze, {Ulrik Kristoffer} and Anna Byrjalsen and Hjalgrim, {Lisa Lyngsie} and Ayo Wahlberg and Ramneek Gupta and Anne-Marie Gerdes and Karin Wadt and Kjeld Schmiegelow",

year = "2018",

language = "Dansk",

volume = "180",

journal = "Ugeskrift for Laeger",

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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

SN - 0041-5782

VL - 180

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 17

M1 - V07170566

ER -

Kræftdisponerende mutationer er hyppige hos børn og unge med kræft

Abstract

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