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

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

Institut for Klinisk Medicin

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.

Bidragets oversatte titel	Germ line mutations causing paediatric cancer predisposition syndromes are common in children and adolescents with cancer
Originalsprog	Dansk
Artikelnummer	V07170566
Tidsskrift	Ugeskrift for Laeger
Vol/bind	180
Udgave nummer	17
Antal sider	6
ISSN	0041-5782
Status	Udgivet - 2018

Emneord

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

FN’s Verdensmål

Dette resultat bidrager til følgende verdensmål

Adgang til dokumentet

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

Citationsformater

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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.",

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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

Emneord

FN’s Verdensmål

Adgang til dokumentet

Fingeraftryk

Citationsformater