Genetic predisposition and chromosome instability in neuroblastoma

GP Tonini, M Capasso - Cancer and Metastasis Reviews, 2020 - Springer
Neuroblastoma (NB) is a pediatric tumor of embryonic origin. About 1–2% of all NBs are
familial cases, and genetic predisposition is suspected for the remaining cases. During the …

Genetic predisposition to solid pediatric cancers

M Capasso, A Montella, M Tirelli, T Maiorino… - Frontiers in …, 2020 - frontiersin.org
Progresses over the past years have extensively improved our capacity to use genome-
scale analyses—including high-density genotyping and exome and genome sequencing …

Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma

F Bonfiglio, VA Lasorsa, S Cantalupo, G D'Alterio… - …, 2023 - thelancet.com
Background Neuroblastoma (NB) is the most common solid extracranial paediatric tumour.
Genome-wide association studies have driven the discovery of common risk variants, but no …

FGFR1 is a potential therapeutic target in neuroblastoma

F Cimmino, A Montella, M Tirelli, M Avitabile… - Cancer Cell …, 2022 - Springer
Background FGFR1 regulates cell–cell adhesion and extracellular matrix architecture and
acts as oncogene in several cancers. Potential cancer driver mutations of FGFR1 occur in …

Somatic Mutations Enriched in Cis-Regulatory Elements Affect Genes Involved in Embryonic Development and Immune System Response in Neuroblastoma

VA Lasorsa, A Montella, S Cantalupo, M Tirelli… - Cancer Research, 2022 - AACR
Noncoding cis-regulatory variants have gained interest as cancer drivers, yet progress in
understanding their significance is hindered by the numerous challenges and limitations of …

Use of signals of positive and negative selection to distinguish cancer genes and passenger genes

L Bányai, M Trexler, K Kerekes, O Csuka, L Patthy - Elife, 2021 - elifesciences.org
A major goal of cancer genomics is to identify all genes that play critical roles in
carcinogenesis. Most approaches focused on genes positively selected for mutations that …

[HTML][HTML] YTHDC1 gene polymorphisms and neuroblastoma susceptibility in Chinese children

Y Li, T Lu, J Wang, Z Zhuo, L Miao, Z Yang… - Aging (Albany …, 2021 - ncbi.nlm.nih.gov
Neuroblastoma (NB) is the most common extracranial tumor in children. YTHDC1, a member
of RNA methylation modification binding proteins, plays critical roles in tumor occurrence …

Regulatory non-coding somatic mutations as drivers of neuroblastoma

A Montella, M Tirelli, VA Lasorsa, V Aievola… - British Journal of …, 2025 - nature.com
Background Emerging evidence suggests that non-coding somatic single nucleotide
variants (SNVs) in cis-regulatory elements (CREs) contribute to cancer by disrupting gene …

YTHDF2 Gene rs3738067 A>G Polymorphism Decreases Neuroblastoma Risk in Chinese Children: Evidence From an Eight-Center Case-Control Study

H Zeng, M Li, J Liu, J Zhu, J Cheng, Y Li… - Frontiers in …, 2021 - frontiersin.org
Neuroblastoma is a primary malignancy mainly occurring in children. We have reported that
polymorphisms of several N6-methyladenosine (m6A) RNA modification-related genes …

The pivotal function of SLC16A1 and SLC16A1-AS1 in cancer progress: molecular pathogenesis and prognosis

Y Zhou, F Tan, Z Wang, G Zhou… - Mini Reviews in …, 2024 - benthamdirect.com
More than 300 membranes make up the SLC family of transporters, utilizing an ion gradient
or electrochemical potential difference to move their substrates across biological …