ArticleHuman mutation2026
Expanding the Molecular Data of
Article in Human mutation, 2026. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
16 authors.
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Abstract
Background/Objective: Design and Methods: Seventeen unrelated patients with Results: Sixteen distinct germline variants were identified in the 17 index cases, including 12 novel alterations (75%). One quarter of the variants were de novo. Thyroid involvement, particularly multinodular goiter and papillary thyroid carcinoma, was the most common presentation and frequently coexisted with ovarian Sertoli-Leydig cell tumors or embryonal rhabdomyosarcoma. Two novel intronic variants were confirmed to affect splicing by RT-PCR. Somatic "hotspot" mutations in exons 24-25 (RNase IIIb domain) were detected in most tumors, consistent with the two-hit model. The identification of asymptomatic carriers enabled early surveillance and preventive interventions. Conclusions: This study expands the molecular spectrum of germline
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