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 …

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 …

(Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome

A Mussa, S Russo, A De Crescenzo, A Freschi… - European journal of …, 2016 - nature.com
Beckwith–Wiedemann syndrome (BWS) is characterized by cancer predisposition,
overgrowth and highly variable association of macroglossia, abdominal wall defects …

(Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine

A Mussa, S Russo, L Larizza, A Riccio… - Clinical …, 2016 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is the commonest overgrowth cancer predisposition
disorder and represents a model for human imprinting dysregulation and tumorigenesis …

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 …

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 …

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 …

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 …

Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance

F Brioude, A Lacoste, I Netchine, MP Vazquez… - Hormone research in …, 2014 - karger.com
Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated
with an increased risk of pediatric tumors. The underlying molecular abnormalities may be …

Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

KA Duffy, CM Cielo, JL Cohen… - American Journal of …, 2019 - Wiley Online Library
Beckwith‐Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and
cancer predisposition disorder. Due to both varying molecular defects involving …