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
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 , 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 and Metabolism , vol. 101 , no. 3 , pp. 1159-65 . https://doi.org/10.1210/jc.2015-3766 |
Schlagwörter: |
Adolescent
/ Adult
/ Aged
/ Child
/ Delayed Diagnosis
/ Family
/ Female
/ Genetic Testing
/ Germ-Line Mutation
/ Humans
/ Male
/ Middle Aged
/ Morbidity
/ Multiple Endocrine Neoplasia Type 1
/ Netherlands
/ Prognosis
/ Proto-Oncogene Proteins
/ Survival Analysis
/ Young Adult
/ Journal Article
/ Research Support
/ Non-U.S. Gov't
/ /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being
/ name=SDG 3 - Good Health and Well-being |
Sprache: |
Englisch |
Permalink: |
https://search.fid-benelux.de/Record/base-26687121 |
Datenquelle: |
BASE;
Originalkatalog |
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BASE |
Link(s) :
|
https://research.vu.nl/en/publications/b5d8e636-6c80-4401-ac15-bd86e72cc0b2 |