| Autor: |
Dommering CJ; Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands. cj.dommering@vumc.nl., Henneman L; Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands., van der Hout AH; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Jonker MA; Department of Mathematics, Faculty of Sciences, VU University, Amsterdam, The Netherlands.; Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands., Tops CM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., van den Ouweland AM; Department Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., van der Luijt RB; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hogervorst FB; Department of Pathology, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Redeker EJ; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., de Die-Smulders CE; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Moll AC; Department of Ophthalmology, VU University Medical Center, Amsterdam, The Netherlands., Meijers-Heijboer H; Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands. |
| Abstrakt: |
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. |
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