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Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?
American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2261-2264
Kalish, Jennifer M.
Deardorff, Matthew A.
2016
Details
Autor(en) / Beteiligte
Kalish, Jennifer M.
Deardorff, Matthew A.
Titel
Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?
Ist Teil von
American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2261-2264
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2016
Link zum Volltext
Quelle
Wiley Online Library Journals Frontfile Complete
Beschreibungen/Notizen
Beckwith–Wiedemann syndrome (BWS) is the most common imprinting disorder and consequently, one of the most common cancer predisposition disorders. Over the past 20 years, our understanding of the genetics and epigenetics leading to BWS has evolved and genotype/phenotype correlations have become readily apparent. Clinical management of these patients is focused on omphaloceles, hypoglycemia, macroglossia, hemihypertrophy, and tumor screening. Until recently, the need for tumor screening has been thought to be largely uniform across all genetic and epigenetic causes of BWS. As tumor risk correlates with genetic and epigenetic causes of BWS, several groups have proposed alterations to tumor screening protocols based on the etiology of BWS. However, there are many challenges inherent in adapting screening protocols. Such protocols must accommodate not only the risk based on genetic and epigenetic causes but also the medical cost‐benefit of screening, the psychological impact on families, and the social‐legal implications of missing a treatable tumor. © 2016 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.37881
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5930355
Format
–
Schlagworte
11p overgrowth
,
Beckwith-Wiedemann syndrome
,
Beckwith-Wiedemann Syndrome - complications
,
Beckwith-Wiedemann Syndrome - epidemiology
,
Beckwith-Wiedemann Syndrome - genetics
,
Clinical Decision-Making
,
Diagnostic Errors - legislation & jurisprudence
,
Diagnostic Errors - psychology
,
Disease Management
,
Early Detection of Cancer - economics
,
Early Detection of Cancer - methods
,
Factor Analysis, Statistical
,
Humans
,
Neoplasms - diagnosis
,
Neoplasms - epidemiology
,
Neoplasms - etiology
,
Practice Guidelines as Topic
,
tumor screening
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