ArticleInternational journal of molecular sciences2025
A Novel Germline Frameshift Variant in the Tumor Suppressor Gene
Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Malignant melanoma is a complex malignancy with genetic, environmental, and lifestyle factors in its etiology. While germline variants in melanoma predisposition genes have been described, many patients remain genetically unexplained after panel testing. We previously analyzed a Hungarian melanoma cohort (n = 17), identifying variants in predisposing or susceptibility genes in 58.82% of patients. For individuals negative on this melanoma-specific panel, we expanded testing to a 19-gene panel associated with multiple cancer types. Next-generation sequencing was performed, followed by Sanger sequencing for confirmation. Variants were classified according to ACMG guidelines. In a 58-year-old female patient with a history of primary cutaneous melanoma, we identified a novel heterozygous frameshift variant in the tumor suppressor gene
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