The utility of alpha‐fetoprotein screening in Beckwith–Wiedemann syndrome

KA Duffy, MA Deardorff… - American Journal of …, 2017 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is one of the most common cancer predisposition
disorders. As a result, BWS patients receive tumor screening as part of their clinical …

Tumor screening in Beckwith–Wiedemann syndrome—To screen or not to screen?

JM Kalish, MA Deardorff - … Journal of Medical Genetics Part A, 2016 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is the most common imprinting disorder and
consequently, one of the most common cancer predisposition disorders. Over the past 20 …

Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups

SM Maas, F Vansenne, DJM Kadouch… - American journal of …, 2016 - Wiley Online Library
Patients with Beckwith–Wiedemann syndrome (BWS) have an increased risk to develop
cancer in childhood, especially Wilms tumor and hepatoblastoma. The risk varies depending …

Cancer risk in Beckwith-Wiedemann syndrome: a systematic review and meta-analysis outlining a novel (Epi) genotype specific histotype targeted screening protocol

A Mussa, C Molinatto, G Baldassarre, E Riberi… - The Journal of …, 2016 - Elsevier
Objective To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular
subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control …

[HTML][HTML] Molecular basis of Beckwith–Wiedemann syndrome spectrum with associated tumors and consequences for clinical practice

T Eggermann, ER Maher, CP Kratz, D Prawitt - Cancers, 2022 - mdpi.com
Simple Summary Beckwith–Wiedemann syndrome (BWS, OMIM 130650) is an inborn
overgrowth disorder caused by molecular alterations in chromosome 11p15. 5. These …

[HTML][HTML] Occurrence of Hepatoblastomas in Patients with Beckwith–Wiedemann Spectrum (BWSp)

SD Klein, M DeMarchis, RL Linn, SP MacFarland… - Cancers, 2023 - mdpi.com
Simple Summary Beckwith–Wiedemann syndrome (BWS) is an overgrowth and cancer
predisposition disorder that is associated with increased risk of hepatoblastoma (HB), a liver …

Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the …

A Mussa, S Di Candia, S Russo, S Catania… - European journal of …, 2016 - Elsevier
Beckwith–Wiedemann syndrome (BWS) is the most common (epi) genetic overgrowth-
cancer predisposition disorder. Given the absence of consensual recommendations or …

[HTML][HTML] Introduction to the Beckwith–Wiedemann Syndrome and Cancer Special Issue

A Mussa, JM Kalish - Cancers, 2023 - mdpi.com
Beckwith–Wiedemann syndrome (BWS) is a genetic imprinting disorder that most commonly
presents as overgrowth, macroglossia, abdominal wall defects, lateralized overgrowth, and …

Beckwith-Wiedemann Syndrome: Partnership in the Diagnostic Journey of a Rare Disorder

AS Davlin, CM Clarkin, JM Kalish - Pediatrics, 2018 - publications.aap.org
Conditions like Beckwith-Wiedemann syndrome (BWS) carry a risk of an associated
aggressive malignancy, and thus timely diagnosis is critical. Without a clear diagnosis and …

[HTML][HTML] Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

WN Cooper, A Luharia, GA Evans, H Raza… - European journal of …, 2005 - nature.com
Abstract Beckwith–Wiedemann Syndrome (BWS) results from mutations or epigenetic
events involving imprinted genes at 11p15. 5. Most BWS cases are sporadic and uniparental …