ArticleIJU case reports2026
A Germline
Article in IJU case reports, 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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7 authors.
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Abstract
Introduction: Upper tract urothelial carcinoma (UTUC) is associated with Lynch syndrome; however, increasing evidence suggests broader genetic heterogeneity. Although multigene panel testing (MGPT) is increasingly adopted internationally, syndrome-specific genetic testing (SSGT) remains predominant in Japan, potentially limiting detection of non-Lynch hereditary variants. Appropriate selection for expanded germline evaluation remains challenging. Case Presentation: A 41-year-old man with locally advanced UTUC underwent neoadjuvant chemotherapy followed by surgery. His family history included gastrointestinal and breast cancers and did not fit a single hereditary syndrome. Although SSGT was initially considered for Lynch syndrome, germline MGPT was performed after genetic counseling. MGPT identified a germline pathogenic Conclusion: This case highlights the value of comprehensive germline evaluation in selected UTUC patients. Urologists should recognize atypical/mixed family histories and consider early genetic referral. Selective MGPT may improve identification of clinically actionable germline variants.
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