[HTML][HTML] Placenta-specific epimutation at H19-DMR among common pregnancy complications: its frequency and effect on the expression patterns of H19 and IGF2

Y Yamaguchi, C Tayama, J Tomikawa, R Akaishi… - Clinical …, 2019 - Springer
Background H19 and IGF2 genes are imprinted and involved in regulating fetal and
placental growth. The H19 differentially methylated region (DMR) is paternally methylated …

Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations

L Faivre, JC Crépin, M Réda, S Nambot… - Clinical …, 2023 - Wiley Online Library
The PIK3CA‐related overgrowth spectrum (PROS) encompasses various conditions caused
by mosaic activating PIK3CA variants. PIK3CA somatic variants are also involved in various …

[HTML][HTML] Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors

A Martin-Trujillo, E Vidal… - Nature …, 2017 - nature.com
It has been postulated that imprinting aberrations are common in tumors. To understand the
role of imprinting in cancer, we have characterized copy-number and methylation in over …

Hepatoblastoma in molecularly defined, congenital diseases

G Nussbaumer, M Benesch - American Journal of Medical …, 2022 - Wiley Online Library
Abstract Beckwith–Wiedemann spectrum, Simpson–Golabi–Behmel syndrome, familial
adenomatous polyposis and trisomy 18 are the most common congenital conditions …

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 …

[HTML][HTML] Characterization and childhood tumor risk assessment of genetic and epigenetic syndromes associated with lateralized overgrowth

JR Griff, KA Duffy, JM Kalish - Frontiers in pediatrics, 2020 - frontiersin.org
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 …

[HTML][HTML] Astroblastomas exhibit radial glia stem cell lineages and differential expression of imprinted and X-inactivation escape genes

NL Lehman, N Spassky, M Sak, A Webb… - Nature …, 2022 - nature.com
Astroblastomas (ABs) are rare brain tumors of unknown origin. We performed an integrative
genetic and epigenetic analysis of AB-like tumors. Here, we show that tumors traceable to …

Familial Beckwith‐Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping

LG Best, KA Duffy, AM George… - American Journal of …, 2023 - Wiley Online Library
Abstract Beckwith‐Wiedemann Spectrum (BWSp) is an overgrowth and cancer
predisposition disorder characterized by a wide spectrum of phenotypic manifestations …

Genetics of adrenocortical development and tumors

M Lodish - Endocrinology and Metabolism Clinics, 2017 - endo.theclinics.com
This article links the understanding of the developmental physiology of the adrenal cortex to
adrenocortical tumor formation. Many molecular mechanisms that lead to the formation of …

Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques

D Carli, M Operti, S Russo, G Cocchi, D Milani… - Clinical …, 2022 - Wiley Online Library
Abstract The prevalence of Beckwith–Wiedemann spectrum (BWSp) is tenfold increased in
children conceived through assisted reproductive techniques (ART). More than 90% of ART …