Neuroblastoma Predisposition and Surveillance—An Update from the 2023 AACR Childhood Cancer Predisposition Workshop

J Kamihara, LR Diller, WD Foulkes… - Clinical Cancer …, 2024 - aacrjournals.org
Genetic predisposition to neuroblastoma (NB) is relatively rare. Only 1% to 2% of patients
have a family history of NB, 3% to 4% of cases present with bilateral or multifocal primary …

Developmental origins shape the paediatric cancer genome

X Chen, W Yang, CWM Roberts, J Zhang - Nature Reviews Cancer, 2024 - nature.com
In the past two decades, technological advances have brought unprecedented insights into
the paediatric cancer genome revealing characteristics distinct from those of adult cancer …

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 …

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 …

A maternal germline mutator phenotype in a family affected by heritable colorectal cancer

CL Young, AC Beichman, D Mas-Ponte, SL Hemker… - Genetics, 2024 - academic.oup.com
Variation in DNA repair genes can increase cancer risk by elevating the rate of oncogenic
mutation. Defects in one such gene, MUTYH, are known to elevate the incidence of …

[HTML][HTML] Response to PARP Inhibition in a BARD1-Mutated Refractory Neuroblastoma

M Cupit-Link, K Hagiwara, M Nagy… - The New England …, 2024 - pmc.ncbi.nlm.nih.gov
Patients with relapsed/refractory high-risk neuroblastoma (HRNBL) have poor prognoses.
Recent studies found that BARD1 harbored the most significantly enriched pathogenic/likely …

[HTML][HTML] Clinical response to a PARP inhibitor and chemotherapy in a child with BARD1-mutated refractory neuroblastoma: a case report

M Cupit-Link, K Hagiwara, J Zhang… - Research …, 2023 - ncbi.nlm.nih.gov
Despite advances in the treatment of high-risk neuroblastoma, approximately half of these
patients die from the disease. Targeted therapy based on synthetic lethality associated with …

Reply to Li and Colleagues

CP Kratz, D Smirnov, R Autry, N Jäger… - JNCI: Journal of the …, 2023 - academic.oup.com
This is a valid argument. However, the use of an extreme phenotype case–control design
(eg, by using healthy elderly controls to search for cancer associated genes) has been …

[HTML][HTML] Rare germline structural variants increase risk for pediatric solid tumors

R Gillani, RL Collins, J Crowdis, A Garza, JK Jones… - bioRxiv, 2024 - ncbi.nlm.nih.gov
Pediatric solid tumors are rare malignancies that represent a leading cause of death by
disease among children in developed countries. The early age-of-onset of these tumors …

[HTML][HTML] DNA Repair and Replicative Stress Addiction in Neuroblastoma

K Durinck, MS Irwin - EJC Paediatric Oncology, 2024 - Elsevier
Neuroblastoma (NB) is a pediatric tumor of the sympathetic nervous system. Survival
remains poor for the almost 40% of patients with high-risk NB. Targeted therapy options for …