Cargando…

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort

BACKGROUND: Studies suggest that Wilms tumours (WT) are caused by underlying genetic (5%–10%) and epigenetic (2%–29%) mechanisms, yet studies covering both aspects are sparse. METHODS: We performed prospective whole-genome sequencing of germline DNA in Danish children diagnosed with WT from 2016 to...

Descripción completa

Detalles Bibliográficos
Autores principales:	Stoltze, Ulrik Kristoffer, Hildonen, Mathis, Hansen, Thomas Van Overeem, Foss-Skiftesvik, Jon, Byrjalsen, Anna, Lundsgaard, Malene, Pignata, Laura, Grønskov, Karen, Tumer, Zeynep, Schmiegelow, Kjeld, Brok, Jesper Sune, Wadt, Karin A W
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2023
Materias:	Cancer Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447365/ https://www.ncbi.nlm.nih.gov/pubmed/37019617 http://dx.doi.org/10.1136/jmg-2022-108982

Ejemplares similares

Molecular reclassification reveals low prevalence of germline predisposition in children with ependymoma
por: Foss-Skiftesvik, Jon, et al.
Publicado: (2023)

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes
por: Stoltze, Ulrik Kristoffer, et al.
Publicado: (2023)

Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel
por: Byrjalsen, Anna, et al.
Publicado: (2021)

Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort
por: Foss-Skiftesvik, Jon, et al.
Publicado: (2022)

The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification
por: Byrjalsen, Anna, et al.
Publicado: (2023)

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants
por: Stoltze, Ulrik Kristoffer, et al.
Publicado: (2023)

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark
por: Stoltze, Ulrik, et al.
Publicado: (2018)

Non-infectious chemotherapy-associated acute toxicities during childhood acute lymphoblastic leukemia therapy
por: Schmiegelow, Kjeld, et al.
Publicado: (2017)

9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature
por: Jensen, Marlene Richter, et al.
Publicado: (2022)

TRIM28 variants and Wilms' tumour predisposition
por: Hol, Janna A, et al.
Publicado: (2021)

RosettaDDGPrediction for high‐throughput mutational scans: From stability to binding
por: Sora, Valentina, et al.
Publicado: (2023)

Multi-ancestry genome-wide association study of 4069 children with glioma identifies 9p21.3 risk locus
por: Foss-Skiftesvik, Jon, et al.
Publicado: (2023)

Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives
por: Byrjalsen, Anna, et al.
Publicado: (2020)

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1
por: Hildonen, Mathis, et al.
Publicado: (2020)

Identification of new Wilms tumour predisposition genes: an exome sequencing study
por: Mahamdallie, Shazia, et al.
Publicado: (2019)

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1
por: Rasmussen, Astrid, et al.
Publicado: (2022)

A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome
por: Bache, Iben, et al.
Publicado: (2020)

Smartphone App to Self-Monitor Nausea During Pediatric Chemotherapy Treatment: User-Centered Design Process
por: Eliasen, Astrid, et al.
Publicado: (2020)

The clinical impact of observer variability in lung nodule classification in children with Wilms tumour
por: Brok, Jesper Sune, et al.
Publicado: (2022)

Genetic Predisposition and Salt Sensitivity in a Chinese Han Population: The EpiSS Study
por: Liu, Kuo, et al.
Publicado: (2020)

TRIM28 congenital predisposition to Wilms’ tumor: novel mutations and presentation in a sibling pair
por: Moore, Colin, et al.
Publicado: (2020)

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes
por: Byrjalsen, Anna, et al.
Publicado: (2020)

Molecular Characterization of Melanoma Cases in Denmark Suspected of Genetic Predisposition
por: Wadt, Karin A. W., et al.
Publicado: (2015)

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes
por: Jelsig, Anne Marie, et al.
Publicado: (2021)

Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome
por: Hildonen, Mathis, et al.
Publicado: (2021)

EWAS of Monozygotic Twins Implicate a Role of mTOR Pathway in Pathogenesis of Tic Spectrum Disorder
por: Hildonen, Mathis, et al.
Publicado: (2021)

Epidemiology of Therapy-Related Myeloid Neoplasms After Treatment for Pediatric Acute Lymphoblastic Leukemia in the Nordic Countries.
por: Schmiegelow, Kjeld
Publicado: (2011)

Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome
por: Bjerregaard, Victoria A., et al.
Publicado: (2023)

Childhood hydrocephalus – is radiological morphology associated with etiology
por: Foss-Skiftesvik, Jon, et al.
Publicado: (2013)

Prognostic Factors for Wilms Tumor Recurrence: A Review of the Literature
por: Groenendijk, Alissa, et al.
Publicado: (2021)

Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization
por: Hol, Janna A., et al.
Publicado: (2022)

Wilms' Tumour
por: Pearson, D.
Publicado: (1976)

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
por: Lalloo, Fiona, et al.
Publicado: (2023)

The Genetic and Epigenetic Features of Bilateral Wilms Tumor Predisposition: A Report from the Children’s Oncology Group AREN18B5-Q Study
por: Murphy, Andrew J., et al.
Publicado: (2023)

Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier
por: Byrjalsen, Anna, et al.
Publicado: (2017)

Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors
por: Pignata, Laura, et al.
Publicado: (2020)

Somatic TP53 Mutations Are Detectable in Circulating Tumor DNA from Children with Anaplastic Wilms Tumors()()
por: Treger, Taryn D., et al.
Publicado: (2018)

Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant
por: Falcone, Maria Pia, et al.
Publicado: (2021)

Transient global amnesia after cerebral angiography still occurs: Case report and literature review
por: Foss-Skiftesvik, Jon, et al.
Publicado: (2015)

Challenges in implementing individualized medicine illustrated by antimetabolite therapy of childhood acute lymphoblastic leukemia
por: Nersting, Jacob, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_r10k1bu07b6rjpukk4hhqtvodj