Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

Charlotte J. Dommering, Lidewij Henneman, Annemarie H. van der Hout, Marianne A. Jonker, Carli M. J. Tops, Ans M. W. van den Ouweland, Rob B. Van Der Luijt, Arjen R. Mensenkamp, Frans B L Hogervorst, Egbert J.W. Redeker, Christine E.M. de Die-Smulders, Annette C. Moll, Hanne Meijers-Heijboer

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)271-277
Number of pages7
JournalFamilial Cancer
Volume16
Issue number2
DOIs
Publication statusPublished - 1 Apr 2017

Cite this

Dommering, Charlotte J. ; Henneman, Lidewij ; van der Hout, Annemarie H. ; Jonker, Marianne A. ; Tops, Carli M. J. ; van den Ouweland, Ans M. W. ; Van Der Luijt, Rob B. ; Mensenkamp, Arjen R. ; Hogervorst, Frans B L ; Redeker, Egbert J.W. ; de Die-Smulders, Christine E.M. ; Moll, Annette C. ; Meijers-Heijboer, Hanne. / Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands. In: Familial Cancer. 2017 ; Vol. 16, No. 2. pp. 271-277.
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abstract = "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.",
keywords = "Familial adenomatous polyposis, Hereditary breast ovarian cancer, Li–Fraumeni syndrome, Prenatal diagnosis, Retinoblastoma, Von Hippel–Lindau disease",
author = "Dommering, {Charlotte J.} and Lidewij Henneman and {van der Hout}, {Annemarie H.} and Jonker, {Marianne A.} and Tops, {Carli M. J.} and {van den Ouweland}, {Ans M. W.} and {Van Der Luijt}, {Rob B.} and Mensenkamp, {Arjen R.} and Hogervorst, {Frans B L} and Redeker, {Egbert J.W.} and {de Die-Smulders}, {Christine E.M.} and Moll, {Annette C.} and Hanne Meijers-Heijboer",
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Dommering, CJ, Henneman, L, van der Hout, AH, Jonker, MA, Tops, CMJ, van den Ouweland, AMW, Van Der Luijt, RB, Mensenkamp, AR, Hogervorst, FBL, Redeker, EJW, de Die-Smulders, CEM, Moll, AC & Meijers-Heijboer, H 2017, 'Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands' Familial Cancer, vol. 16, no. 2, pp. 271-277. https://doi.org/10.1007/s10689-016-9943-z

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands. / Dommering, Charlotte J.; Henneman, Lidewij; van der Hout, Annemarie H.; Jonker, Marianne A.; Tops, Carli M. J.; van den Ouweland, Ans M. W.; Van Der Luijt, Rob B.; Mensenkamp, Arjen R.; Hogervorst, Frans B L; Redeker, Egbert J.W.; de Die-Smulders, Christine E.M.; Moll, Annette C.; Meijers-Heijboer, Hanne.

In: Familial Cancer, Vol. 16, No. 2, 01.04.2017, p. 271-277.

Research output: Contribution to journalArticleAcademicpeer-review

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T1 - Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

AU - Dommering, Charlotte J.

AU - Henneman, Lidewij

AU - van der Hout, Annemarie H.

AU - Jonker, Marianne A.

AU - Tops, Carli M. J.

AU - van den Ouweland, Ans M. W.

AU - Van Der Luijt, Rob B.

AU - Mensenkamp, Arjen R.

AU - Hogervorst, Frans B L

AU - Redeker, Egbert J.W.

AU - de Die-Smulders, Christine E.M.

AU - Moll, Annette C.

AU - Meijers-Heijboer, Hanne

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N2 - 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.

AB - 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.

KW - Familial adenomatous polyposis

KW - Hereditary breast ovarian cancer

KW - Li–Fraumeni syndrome

KW - Prenatal diagnosis

KW - Retinoblastoma

KW - Von Hippel–Lindau disease

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DO - 10.1007/s10689-016-9943-z

M3 - Article

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SP - 271

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JO - Familial Cancer

JF - Familial Cancer

SN - 1389-9600

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