Performance metrics of the scoring system for the diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and its correlation with cancer development

M Luca, D Carli, S Cardaropoli, D Milani, G Cocchi… - Cancers, 2023 - mdpi.com
Simple Summary Beckwith-Wiedemann syndrome (BWSp) has recently been renamed to
spectrum to reflect its diverse presentation and clinical features. In 2018, an international …

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 …

Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study

R Wang, Y Xiao, D Li, H Hu, X Li, T Ge, R Yu… - Italian Journal of …, 2020 - Springer
Abstract Background Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth
disorder with variable clinical features and cancer predisposition. In this study, we aim to …

Characteristics associated with tumor development in individuals diagnosed with Beckwith–Wiedemann spectrum: Novel tumor-(epi) genotype-phenotype …

KA Duffy, KD Getz, ER Hathaway, ME Byrne… - Genes, 2021 - mdpi.com
Beckwith–Wiedemann Spectrum (BWSp) is the most common epigenetic childhood cancer
predisposition disorder. BWSp is caused by (epi) genetic changes affecting the BWS critical …

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 …

Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer

F Cecere, L Pignata, B Hay Mele, A Saadat… - Cancers, 2023 - mdpi.com
Simple Summary Beckwith–Wiedemann Spectrum (BWSp) is a disorder predisposing to
tumors of embryonic origin arising during childhood. Little is known concerning tumor risk …

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 …

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

LCA Cardoso, A Parra, CR Gil, P Arias, N Gallego… - Cancers, 2022 - mdpi.com
Simple Summary Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder caused
by imprinting or genetic alterations at the 11p15. 5 locus. BWS is considered a spectrum …