Impact of Delay in Diagnosis in Outcomes in MEN1: Results From the Dutch MEN1 Study Group

Objective: Identifying a germline mutation in the multiple endocrine neoplasia type 1 (MEN1) gene in an index case has consequences for a whole family. Eligible family members should be offered genetic counseling and MEN1 mutation testing. Subsequently, clinical screening of mutation carriers according to the guidelines should be initiated. We assessed whether there is a lag time from MEN1 diagnosis of the index case to MEN1 diagnosis of family members. In addition, we determined whether this lag time was associated with an increased morbidity and mortality risk. Design: A cohort study was per... Mehr ...

Verfasser: van Leeuwaarde, Rachel S.
van Nesselrooij, Bernadette P. M.
Hermus, Ad R.
Dekkers, Olaf M.
de Herder, Wouter W.
van der Horst-Schrivers, Anouk N.
Drent, Madeleine L.
Bisschop, Peter H.
Havekes, Bas
Vriens, Menno R.
de Laat, Joanne M.
Pieterman, Carolina R. C.
Valk, Gerlof D.
Dokumenttyp: Artikel
Erscheinungsdatum: 2016
Reihe/Periodikum: van Leeuwaarde , R S , van Nesselrooij , B P M , Hermus , A R , Dekkers , O M , de Herder , W W , van der Horst-Schrivers , A N , Drent , M L , Bisschop , P H , Havekes , B , Vriens , M R , de Laat , J M , Pieterman , C R C & Valk , G D 2016 , ' Impact of Delay in Diagnosis in Outcomes in MEN1: Results From the Dutch MEN1 Study Group ' , Journal of Clinical Endocrinology & Metabolism , vol. 101 , no. 3 , pp. 1159-1165 . https://doi.org/10.1210/jc.2015-3766
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-26664536
Datenquelle: BASE; Originalkatalog
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Link(s) : https://cris.maastrichtuniversity.nl/en/publications/b8bc352b-1c62-49c4-a3c1-6ea0a692ce93