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

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

Fam Cancer. 2017 Apr;16(2):271-277. doi: 10.1007/s10689-016-9943-z.

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

Dommering CJ1, Henneman L2, van der Hout AH3, Jonker MA4,5, Tops CM6, van den Ouweland AM7, van der Luijt RB8, Mensenkamp AR9, Hogervorst FB10, Redeker EJ11, de Die-Smulders CE12, Moll AC13, Meijers-Heijboer H2.

Author information

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

PMID:

 

27826806

 

DOI:

 

10.1007/s10689-016-9943-z

Last Posted: Mar 23, 2017

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