TY - JOUR
T1 - Recognition of genetic predisposition in pediatric cancer patients
T2 - An easy-to-use selection tool
AU - Jongmans, Marjolijn C J
AU - Loeffen, Jan L C M
AU - Waanders, Esmé
AU - Hoogerbrugge, Peter M
AU - Ligtenberg, Marjolijn J L
AU - Kuiper, Roland P
AU - Hoogerbrugge, Nicoline
N1 - Copyright © 2016 The Authors. Published by Elsevier Masson SAS.. All rights reserved.
PY - 2016/3
Y1 - 2016/3
N2 - Genetic predisposition for childhood cancer is under diagnosed. Identifying these patients may lead to therapy adjustments in case of syndrome-related increased toxicity or resistant disease and syndrome-specific screening programs may lead to early detection of a further independent malignancy. Cancer surveillance might also be warranted for affected relatives and detection of a genetic mutation can allow for reproductive counseling. Here we present an easy-to-use selection tool, based on a systematic review of pediatric cancer predisposing syndromes, to identify patients who may benefit from genetic counseling. The selection tool involves five questions concerning family history, the type of malignancy, multiple primary malignancies, specific features and excessive toxicity, which results in the selection of those patients that may benefit from referral to a clinical geneticist.
AB - Genetic predisposition for childhood cancer is under diagnosed. Identifying these patients may lead to therapy adjustments in case of syndrome-related increased toxicity or resistant disease and syndrome-specific screening programs may lead to early detection of a further independent malignancy. Cancer surveillance might also be warranted for affected relatives and detection of a genetic mutation can allow for reproductive counseling. Here we present an easy-to-use selection tool, based on a systematic review of pediatric cancer predisposing syndromes, to identify patients who may benefit from genetic counseling. The selection tool involves five questions concerning family history, the type of malignancy, multiple primary malignancies, specific features and excessive toxicity, which results in the selection of those patients that may benefit from referral to a clinical geneticist.
KW - Abnormalities, Multiple/diagnosis
KW - Age Factors
KW - Child
KW - Child, Preschool
KW - Genetic Association Studies
KW - Genetic Predisposition to Disease
KW - Humans
KW - Neoplasms/diagnosis
KW - Phenotype
KW - Population Surveillance/methods
KW - Risk
KW - Syndrome
UR - http://www.scopus.com/inward/record.url?scp=84959131531&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2016.01.008
DO - 10.1016/j.ejmg.2016.01.008
M3 - Review article
C2 - 26825391
SN - 1769-7212
VL - 59
SP - 116
EP - 125
JO - European journal of medical genetics
JF - European journal of medical genetics
IS - 3
ER -