ArticleJCO precision oncology2025
Heterozygous Germline Fanconi Anemia-Related Gene Mutations Increase Susceptibility to Germ Cell Tumors.
Article in JCO precision oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Anemia and hemoglobin thresholds of 12.5 and 13.0 g/dL are associated with distinct cardiovascular and all-cause mortality risks in COPD.International journal of cardiology. Cardiovascular risk and prevention · 2026Article
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5 authors.
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Abstract
purposeGerm cell tumors (GCTs) are a heterogeneous group of neoplasms that predominantly affect adolescents and young adults. Notably, geographical disparities in GCT incidence exist, with higher rates observed in East Asia. Although numerous studies have established links between heterozygous germline mutations in Fanconi anemia (FA) genes and the development of certain human cancers, the association between germline pathogenic or likely pathogenic (P/LP) variants in FA genes and the relative risk of developing GCTs remains incompletely characterized.
methodsIn this study, we used next-generation sequencing (NGS) to investigate the genetic susceptibility patterns of Chinese patients with GCTs for the first time. We investigated the association between germline P/LP variants in FA-related genes and the risk of developing GCTs. Furthermore, we compared clinical characteristics, mutational landscape, and mutational signatures between patients with and without germline P/LP variants in FA-related genes.
resultsWe identified heterozygous germline P/LP variants in FA-related genes in 12.12% (8/66) of patients with GCTs, involving
conclusionThese results elucidate the contribution of FA-related germline variants to GCT pathogenesis and advance our understanding of the genetic determinants influencing GCT relative risk. This research provides a basis for developing more effective screening strategies, personalized treatment approaches, and improved patient management strategies for GCTs.
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