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 …

Emerging therapeutic targets for neuroblastoma

N Aravindan, T Herman, S Aravindan - Expert opinion on …, 2020 - Taylor & Francis
Introduction Neuroblastoma (NB) is the prime cancer of infancy, and accounts for 9% of
pediatric cancer deaths. While children diagnosed with clinically stable NB experience a …

BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma

MP Randall, LE Egolf, Z Vaksman… - JNCI: Journal of the …, 2024 - academic.oup.com
Background High-risk neuroblastoma is a complex genetic disease that is lethal in more
than 50% of patients despite intense multimodal therapy. Through genome-wide association …

[HTML][HTML] Downregulation of MEG3 promotes neuroblastoma development through FOXO1-mediated autophagy and mTOR-mediated epithelial-mesenchymal …

M Ye, H Lu, W Tang, T Jing, S Chen, M Wei… - … journal of biological …, 2020 - ncbi.nlm.nih.gov
Our previous studies demonstrated that MEG3 was significantly downregulated in
neuroblastoma (NB) and its expression was negatively associated with the INSS stage …

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 …

The effects of genetic and epigenetic alterations of BARD1 on the development of non-breast and non-gynecological cancers

AK Watters, ES Seltzer, D MacKenzie Jr, M Young… - Genes, 2020 - mdpi.com
Br east Ca ncer 1 (BRCA1) gene is a well-characterized tumor suppressor gene, mutations
of which are primarily found in women with breast and ovarian cancers. B RCA1-a ssociated …

[HTML][HTML] Single-cell transcriptomics of neuroblastoma identifies chemoresistance-associated genes and pathways

M Avitabile, F Bonfiglio, V Aievola, S Cantalupo… - Computational and …, 2022 - Elsevier
High-Risk neuroblastoma (NB) survival rate is still< 50%, despite treatments being more and
more aggressive. The biggest hurdle liable to cancer therapy failure is the drug resistance …

The function of BARD1 in centrosome regulation in cooperation with BRCA1/OLA1/RACK1

K Otsuka, Y Yoshino, H Qi, N Chiba - Genes, 2020 - mdpi.com
Breast cancer gene 1 (BRCA1)-associated RING domain protein 1 (BARD1) forms a
heterodimer with BRCA1, a tumor suppressor associated with hereditary breast and ovarian …

Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation

M Tirelli, F Bonfiglio, S Cantalupo, A Montella… - Human Genetics, 2024 - Springer
Abstract Genome-Wide Association Studies (GWAS) have been decisive in elucidating the
genetic predisposition of neuroblastoma (NB). The majority of genetic variants identified in …

HuR plays a role in double-strand break repair in pancreatic cancer cells and regulates functional BRCA1-associated-ring-domain-1 (BARD1) isoforms

A Jain, M McCoy, C Coats, SZ Brown, S Addya, C Pelz… - Cancers, 2022 - mdpi.com
Simple Summary RNA binding proteins (RBPs) post-transcriptionally regulate and stabilize
a variety of target mRNA transcripts. Human Antigen R (HuR) binds to several pro-survival …