Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …

PTEN hamartoma tumor syndrome (PHTS) is a highly variable autosomal dominant
condition associated with intellectual disability, overgrowth, and tumor predisposition …

DICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors.
Developing surveillance protocols for this syndrome is challenging because uncertainty …

WAGR syndrome is a rare genetic disorder characterized by Wilms tumor, Aniridia,
Genitourinary anomalies, and Range of developmental delays. In addition to the classic …

Beckwith–Wiedemann Spectrum (BWSp) is the most common epigenetic childhood cancer
predisposition disorder. BWSp is caused by (epi) genetic changes affecting the BWS critical …

Purpose Individuals with cancer predisposition syndromes (CPS) are often followed in
cancer screening programs, which aim to detect early stage tumors. While cancer …

Lateralized overgrowth (LO), or segmental overgrowth, is defined as an increase in growth
of tissue (bone, muscle, connective tissue, vasculature, etc.) in any region of the body. Some …

Abstract Patients with Beckwith‐Wiedemann spectrum (BWSp) undergo quarterly alpha‐
fetoprotein measurement for hepatoblastoma (HB) screening up to 4 years of age …

Purpose Genetic testing for pediatric cancer predisposition syndromes (CPS) could augment
newborn screening programs, but with uncertain benefits and costs. Methods We developed …

Epigenetics has achieved a profound impact in the biomedical field, providing new
experimental opportunities and innovative therapeutic strategies to face a plethora of …