Wilms tumour

F Spreafico, CV Fernandez, J Brok, K Nakata… - Nature Reviews …, 2021 - nature.com
Wilms tumour (WT) is a childhood embryonal tumour that is paradigmatic of the intersection
between disrupted organogenesis and tumorigenesis. Many WT genes play a critical (non …

A summary of the inaugural WHO classification of pediatric tumors: transitioning from the optical into the molecular era

SM Pfister, M Reyes-Múgica, JKC Chan, H Hasle… - Cancer discovery, 2022 - AACR
Pediatric tumors are uncommon, yet are the leading cause of cancer-related death in
childhood. Tumor types, molecular characteristics, and pathogenesis are unique, often …

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

D Monk, DJG Mackay, T Eggermann, ER Maher… - Nature Reviews …, 2019 - nature.com
Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset
of genes, is required for normal development, and its disruption leads to human disease …

Predisposition to cancer in children and adolescents

CP Kratz, MC Jongmans, H Cavé… - The lancet child & …, 2021 - thelancet.com
Childhood malignancies are rarely related to known environmental exposures, and it has
become increasingly evident that inherited genetic factors play a substantial causal role …

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

D Del Gaudio, M Shinawi, C Astbury, MK Tayeh… - Genetics in …, 2020 - nature.com
Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …

Association of four imprinting disorders and ART

H Hattori, H Hiura, A Kitamura, N Miyauchi… - Clinical …, 2019 - Springer
Background Human-assisted reproductive technologies (ART) are a widely accepted
treatment for infertile couples. At the same time, many studies have suggested the …

Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth

RN Beaumont, C Flatley, M Vaudel, X Wu, J Chen… - Nature Genetics, 2023 - nature.com
A well-functioning placenta is essential for fetal and maternal health throughout pregnancy.
Using placental weight as a proxy for placental growth, we report genome-wide association …

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q

AJ Murphy, C Cheng, J Williams, TI Shaw… - Nature …, 2023 - nature.com
Developing synchronous bilateral Wilms tumor suggests an underlying (epi) genetic
predisposition. Here, we evaluate this predisposition in 68 patients using whole exome or …

Prevalence of (epi) genetic predisposing factors in A 5-year unselected national Wilms tumor cohort: a comprehensive clinical and genomic characterization

JA Hol, RP Kuiper, F Van Dijk, E Waanders… - Journal of Clinical …, 2022 - ascopubs.org
PURPOSE Wilms tumor (WT) is associated with (epi) genetic predisposing factors affecting a
growing number of WT predisposing genes and loci, including those causing Beckwith …

IGF2: Development, Genetic and Epigenetic Abnormalities

C Sélénou, F Brioude, E Giabicani, ML Sobrier… - Cells, 2022 - mdpi.com
In the 30 years since the first report of parental imprinting in insulin-like growth factor 2 (Igf2)
knockout mouse models, we have learnt much about the structure of this protein, its role and …