ArticleEJHaem2024
Beyond myeloid neoplasms germline guidelines: Validation of the thresholds criteria in the search of germline predisposition variants.
Article in EJHaem, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed.
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- How to Read a Next-Generation Sequencing Report for AML and MDS? What Hematologists Need to Know.Journal of clinical medicine · 2025Review
- Co-occurrence ofAmerican journal of ophthalmology case reports · 2025Article
- Article
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7 authors.
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Abstract
Introduction: Germline predisposition to myeloid neoplasms can be suspected in patients younger than 50 years or when harboring mutations with a variant allele frequency (VAF) higher than 30% for point mutations in specific genes. To investigate the VAF thresholds' accuracy we have explored the prevalence of germline variants below the 30% VAF threshold. Methods: A total of 40 variants with VAF lower than 30% in bone marrow samples of myeloid neoplasm patients were selected and studied in CD3 Results: All the selected variants were not found in CD3 Conclusion: Our study suggests that variants with VAF below 30% are strong somatic candidates but the variants with VAF higher than 30% cannot be considered of germline origin.
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