ReviewClinical cancer research : an official journal of the American Association for Cancer Research2024
Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.
Review in Clinical cancer research : an official journal of the American Association for Cancer Research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Central nervous system complications after allogeneic haematopoietic cell transplantation: best practice recommendations from the EBMT practice harmonisation and guidelines committee on epidemiology, outcome and neuroimaging.Bone marrow transplantation · 2026Guideline
- Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care.European journal of human genetics : EJHG · 2026Review
- Childhood cancer predisposition study: a prospective registry and biorepository protocol.BMJ open · 2026Article
- Epidemiology of Childhood Cancer and Cancer Predisposition Syndromes (CPSs): A 20-Year Single-Center Cohort from the Greater Poland Region.Children (Basel, Switzerland) · 2026Article
- A novelJournal of pediatric endocrinology & metabolism : JPEM · 2026Article
- Unique hematological presentation of patients with biallelic inactivation of FANCD1/BRCA2.Blood advances · 2026Article
- Developing a multidisciplinary pediatric cancer predisposition service at a mid-sized children's hospital.Frontiers in oncology · 2026Article
- Inborn errors of immunity with DNA repair disorders: at the interface of immune deficiency, immune dysregulation, and malignancy.Frontiers in immunology · 2026Review
- BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.American journal of human genetics · 2025Article
- Review
- Head and Neck Cancer in Fanconi Anemia: Clinical Challenges and Molecular Insights into a DNA Repair Disorder.Cancers · 2025Review
- Parental perspectives on the use of tumor molecular profiling and germline genetic testing during their children's cancer treatment.Familial cancer · 2025Article
- Pediatric Cancer Predisposition and Surveillance Update: Summary Perspective and Future Directions.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Review
- DTreePred: an online viewer based on machine learning for pathogenicity prediction of genomic variants.BMC bioinformatics · 2025Article
Corrections and comments
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Authors and funding
18 authors.
Funding
Abstract
Genomic instability disorders are characterized by DNA or chromosomal instability, resulting in various clinical manifestations, including developmental anomalies, immunodeficiency, and increased risk of developing cancers beginning in childhood. Many of these genomic instability disorders also present with exquisite sensitivity to anticancer treatments such as ionizing radiation and chemotherapy, which may further increase the risk of second cancers. In July 2023, the American Association for Cancer Research held the second Childhood Cancer Predisposition Workshop, where multidisciplinary international experts discussed, reviewed, and updated recommendations for children with cancer predisposition syndromes. This article discusses childhood cancer risks and surveillance recommendations for the group of genomic instability disorders with predominantly recessive inheritance, including the DNA repair disorders ataxia telangiectasia, Nijmegen breakage syndrome, Fanconi anemia, xeroderma pigmentosum, Bloom syndrome, and Rothmund-Thomson syndrome, as well as the telomere biology disorders and mosaic variegated aneuploidy. Recognition of children with genomic instability disorders is important in order to make the proper diagnosis, enable genetic counseling, and inform cancer screening, cancer risk reduction, and choice of anticancer therapy.
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