11q deletion in neuroblastoma: a review of biological and clinical implications

V Mlakar, S Jurkovic Mlakar, G Lopez, JM Maris… - Molecular cancer, 2017 - Springer
Deletion of the long arm of chromosome 11 (11q deletion) is one of the most frequent events
that occur during the development of aggressive neuroblastoma. Clinically, 11q deletion is …

Neuroblastoma treatment in the post-genomic era

MR Esposito, S Aveic, A Seydel, GP Tonini - Journal of biomedical science, 2017 - Springer
Neuroblastoma is an embryonic malignancy of early childhood originating from neural crest
cells and showing heterogeneous biological, morphological, genetic and clinical …

[HTML][HTML] Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical …

H Hanson, E Astiazaran-Symonds, LM Amendola… - Genetics in …, 2023 - Elsevier
Purpose Although the role of CHEK2 germline pathogenic variants in cancer predisposition
is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited …

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 …

HIF-1 transcription activity: HIF1A driven response in normoxia and in hypoxia

F Cimmino, M Avitabile, VA Lasorsa, A Montella… - BMC medical …, 2019 - Springer
Abstract Background HIF1A (Hypoxia-Inducible-Factor 1A) expression in solid tumors is
relevant to establish resistance to therapeutic approaches. The use of compounds direct …

Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival

J Kim, Z Vaksman, LE Egolf, R Kaufman… - JNCI: Journal of the …, 2024 - academic.oup.com
Background Neuroblastoma is an embryonal cancer of the developing sympathetic nervous
system. The genetic contribution of rare pathogenic or likely pathogenic germline variants in …

Sentinels of chromatin: chromodomain helicase DNA-binding proteins in development and disease

A Alendar, A Berns - Genes & Development, 2021 - genesdev.cshlp.org
Chromatin is highly dynamic, undergoing continuous global changes in its structure and
type of histone and DNA modifications governed by processes such as transcription, repair …

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 …

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 …

Peptides and combination of peptides for use in immunotherapy against small cell lung cancer and other cancers

M Andrea, T Weinschenk, V Goldfinger… - US Patent …, 2019 - Google Patents
The present invention relates to peptides, proteins, nucleic acids and cells for use in
immunotherapeutic methods. In particular, the present invention relates to the immuno …