Small round cell sarcomas

F Cidre-Aranaz, S Watson, JF Amatruda… - Nature Reviews …, 2022 - nature.com
Undifferentiated small round cell sarcomas (SRCSs) of bone and soft tissue comprise a
heterogeneous group of highly aggressive tumours associated with a poor prognosis …

NCI cancer research data commons: cloud-based analytic resources

D Pot, Z Worman, A Baumann, S Pathak, R Beck… - Cancer Research, 2024 - AACR
Abstract The NCI's Cloud Resources (CR) are the analytical components of the Cancer
Research Data Commons (CRDC) ecosystem. This review describes how the three CRs …

Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents—To Test or not to Test?

CP Kratz, PJ Lupo, K Zelley, J Schienda… - Clinical Cancer …, 2024 - aacrjournals.org
With the increasing use of comprehensive germline genetic testing of children and
adolescents with cancer, it has become evident that pathogenic variants (PVs) in adult-onset …

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 …

Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes

NA de Carvalho, KM Santiago, JML Maia… - Journal of Medical …, 2024 - jmg.bmj.com
Background Sarcomas are a rare and diverse group of cancers occurring mainly in young
individuals for which an underlying germline genetic cause remains unclear in most cases …

Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma

N Mohsin, D Hunt, J Yan, AJ Jabbour… - JAMA …, 2024 - jamanetwork.com
Importance Merkel cell carcinoma (MCC) is a rare, aggressive neuroendocrine skin cancer.
Of the patients who develop MCC annually, only 4% are younger than 50 years. Objective …

Regulation of EWSR1-FLI1 function by post-transcriptional and post-translational modifications

L Yu, IJ Davis, P Liu - Cancers, 2023 - mdpi.com
Simple Summary Ewing sarcoma is a malignant pediatric bone cancer currently lacking
targeted therapy. In the US there are~ 200 patients diagnosed each year and relapse is …

Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing

P Alba-Pavón, L Alaña, M Gutierrez-Jimeno… - Scientific Reports, 2023 - nature.com
Genetic predisposition is an important risk factor for cancer in children and adolescents but
detailed associations of individual genetic mutations to childhood cancer are still under …

Innovations in Cancer Treatment of Children

L Helms, AE Guimera, KA Janeway, KM Bailey - Pediatrics, 2023 - publications.aap.org
Pediatric cancer outcomes have significantly improved, and yet this success is not spread
equally across cancer types or patients. Disparities data in pediatric oncology highlight …

Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors

A Groves, A Ward, YY Li… - Pediatric blood & …, 2023 - Wiley Online Library
Utilization of tumor‐only sequencing has expanded in pediatric cancer patients, which can
lead to identification of pathogenic variants in genes that may be germline and/or have …