ArticleScientific reports2017
Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
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Who cites it
38 citing papers in PubMed, 2 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- Impact of germline genetic variation on breast cancer prognosis: a systematic review and meta-analysis.BMC cancer · 2026Pooled it
- Pooled it
- 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
- Digital multiplex ligation-dependent probe amplification identifies exon-level copy number variants in patients with suspected hereditary cancer and negative next-generation sequencing results.Molecular biology reports · 2026Article
- Frequency and clinical features of germline pathogenic variants in sarcoma: a case-control study.Journal of the National Cancer Institute · 2026Article
- Article
- The Impact of Li-Fraumeni and Germline Retinoblastoma Mutations on Leiomyosarcoma Initiation, Outcomes, and Genetic Testing Recommendations.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Article
- Introduction and impact of routine whole genome sequencing in the diagnosis and management of sarcoma.British journal of cancer · 2024Article
- Unraveling noncoding DNA variants and epimutations: a paradigm shift in hereditary cancer research.Future oncology (London, England) · 2024Review
- Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.Journal of medical genetics · 2023Article
- Sarcoma Predisposition in Dogs with a Comparative View to Human Orthologous Disease.Veterinary sciences · 2023Review
- AtypicalFrontiers in oncology · 2023Article
- Drivers of genomic loss of heterozygosity in leiomyosarcoma are distinct from carcinomas.NPJ precision oncology · 2022Article
- Retroperitoneal Sarcoma Care in 2021.Cancers · 2022Review
- Case report: Undifferentiated sarcoma with multiple tumors involved in Lynch syndrome: Unexpected favorable outcome to sintilimab combined with chemotherapy.Frontiers in oncology · 2022Article
- Screening of Potential Key Biomarkers for Ewing Sarcoma: Evidence from Gene Array Analysis.International journal of general medicine · 2022Article
- A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.Genome medicine · 2021Article
- A Retrospective 5-Year Single Center Study Highlighting the Risk of Cancer Predisposition in Adolescents and Young Adults.Cancers · 2021Article
- Mutagenic Consequences of Sublethal Cell Death Signaling.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
21 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Associations of sarcoma with inherited cancer syndromes implicate genetic predisposition in sarcoma development. However, due to the apparently sporadic nature of sarcomas, little attention has been paid to the role genetic susceptibility in sporadic sarcoma. To address this, we performed targeted-genomic sequencing to investigate the prevalence of germline mutations in known cancer-associated genes within an Asian cohort of sporadic sarcoma patients younger than 50 years old. We observed 13.6% (n = 9) amongst 66 patients harbour at least one predicted pathogenic germline mutation in 10 cancer-associated genes including ATM, BRCA2, ERCC4, FANCC, FANCE, FANCI, MSH6, POLE, SDHA and TP53. The most frequently affected genes are involved in the DNA damage repair pathway, with a germline mutation prevalence of 10.6%. Our findings suggests that genetic predisposition plays a larger role than expected in our Asian cohort of sporadic sarcoma, therefore clinicians should be aware of the possibility that young sarcoma patients may be carriers of inherited mutations in cancer genes and should be considered for genetic testing, regardless of family history. The prevalence of germline mutations in DNA damage repair genes imply that therapeutic strategies exploiting the vulnerabilities resulting from impaired DNA repair may be promising areas for translational research.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.