Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.
Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands. Uptake for retinoblastoma (Rb) was compared with uptake for Von Hippel-Lindau disease (VHL), Li-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and hereditary breast ovarian cancer (HBOC). A questionnaire was completed by all nine DNA-diagnostic laboratories assessing the number of independent mutation-positive families identified from the start of diagnostic testing until May 2013, and the number of PNDs performed for these syndromes within these families. Of 187 families with a known Rb-gene mutation, 22 had performed PND (11.8%), this was significantly higher than uptake for FAP (1.6%) and HBOC (<0.2%). For VHL (6.5%) and LFS (4.9%) the difference was not statistically significant. PND for Rb started 3 years after introduction of diagnostic DNA testing and remained stable over the years. For the other cancer syndromes PND started 10-15 years after the introduction and uptake for PND showed an increase after 2009. We conclude that uptake of PND for Rb was significantly higher than for FAP and HBOC, but not different from VHL and LFS. Early onset, high penetrance, lack of preventive surgery and perceived burden of disease may explain these differences.
Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands. cj.dommering@vumc.nl.
Charlotte J
CJ
Dommering
Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands.
Lidewij
L
Henneman
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Annemarie H
AH
van der Hout
Department of Mathematics, Faculty of Sciences, VU University, Amsterdam, The Netherlands.|Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands.
Marianne A
MA
Jonker
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Carli M J
CM
Tops
Department Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Ans M W
AM
van den Ouweland
Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Rob B
RB
van der Luijt
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Arjen R
AR
Mensenkamp
Department of Pathology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Frans B L
FB
Hogervorst
Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Egbert J W
EJ
Redeker
Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Christine E M
CE
de Die-Smulders
Department of Ophthalmology, VU University Medical Center, Amsterdam, The Netherlands.
Annette C
AC
Moll
Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands.
Hanne
H
Meijers-Heijboer
D004252:DNA Mutational Analysis; D055088:Early Detection of Cancer / Q000379:methods / Q000706:statistics & numerical data*; D005260:Female; D016161:Genes, Retinoblastoma / Q000235:genetics*; D005817:Genetic Counseling; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006801:Humans; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics; D009426:Netherlands; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods / Q000706:statistics & numerical data*; D012175:Retinoblastoma / Q000175:diagnosis* / Q000235:genetics; D012189:Retrospective Studies; D011795:Surveys and Questionnaires
Familial adenomatous polyposis; Hereditary breast ovarian cancer; Li–Fraumeni syndrome; Prenatal diagnosis; Retinoblastoma; Von Hippel–Lindau disease