ArticleJournal of medical genetics2023
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.
Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
- Germline pathogenic variants in Japanese adolescents and young adults with advanced solid tumors: a nationwide tumor-normal paired sequencing study.International journal of clinical oncology · 2026Observational
- Nutrition Across the Life Course and Risk of Young-Onset Breast Cancer: Mechanisms, Evidence, and Prevention Opportunities.Nutrients · 2026Review
- Cancer of unknown primary genomic profiling from cell-free DNA provides insights into CUP biology and vulnerabilities.Frontiers in medicine · 2026Article
- Frequency and clinical features of germline pathogenic variants in sarcoma: a case-control study.Journal of the National Cancer Institute · 2026Article
- Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry.Nature communications · 2025Article
- Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.NPJ precision oncology · 2025Article
- Genetic predisposition in sarcomas: clinical implications and management.EClinicalMedicine · 2025Review
- Germline Genetic Testing in Patients with Bone and Soft Tissue Sarcoma: A Prospective Multicenter Study to Evaluate Cancer Susceptibility.International journal of molecular sciences · 2025Article
- Hodgkin lymphoma and Ewing sarcoma in pediatric patient carrying germlineFrontiers in oncology · 2025Article
- Article
- Introduction and impact of routine whole genome sequencing in the diagnosis and management of sarcoma.British journal of cancer · 2024Article
- Germline Genetic Mutations in Adult Patients with Sarcoma: Insight into the Middle East Genetic Landscape.Cancers · 2024Article
- Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with Sarcoma.Journal of personalized medicine · 2024Article
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Authors and funding
13 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSarcomas 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.
methodsGermline DNA from 177 children, adolescents and young adults with soft tissue or bone sarcomas was tested using multigene panels with 113 or 126 cancer predisposing genes (CPGs) to describe the prevalence of germline pathogenic/likely pathogenic variants (GPVs). Subsequent testing of a subset of tumours for loss of heterozygosity (LOH) evaluation was performed to investigate the clinical and molecular significance of these variants.
resultsGPVs were detected in 21.5% (38/177) of the patients (15.8% in children and 21.6% in adolescents and young adults), with dominant CPGs being altered in 15.2% overall. These variants were found in genes previously associated with the risk of developing sarcomas (
conclusionOur findings reveal that a high proportion of young patients with sarcomas presented a GPV in a CPG, underscoring the urgency of establishing appropriate genetic screening strategies for these individuals and their families.
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