Evidence map›Paper›PMID 41993145›Full record

ArticleEuropean urology open science2026

Germline Variants in Bladder and Upper Tract Urothelial Cancers: Prevalence and Clinical Context in a Large Testing Registry.

Steven M Monda, Eugene Oh, Patrick J Lewicki, Samuel D Kaffenberger, Tobias Else, Zachery R Reichert, Irene Tsung, Khurshid R Ghani, Charles B Nguyen, Rob Humble and 7 more

Abstract read
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In one paragraph

Article in European urology open science, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Steven M MondaDepartment of Urology, University of Michigan, Ann Arbor, MI, USA.
Eugene OhSchool of Medicine, University of Michigan, Ann Arbor, MI, USA.
Patrick J LewickiDepartment of Urology, University of Michigan, Ann Arbor, MI, USA.
Samuel D KaffenbergerDepartment of Urology, University of Michigan, Ann Arbor, MI, USA.
Tobias ElseDivision of Genetic Medicine, University of Michigan, Ann Arbor, MI, USA.
Zachery R ReichertDivision of Hematology and Oncology, University of Michigan, Ann Arbor, MI, USA.
Irene TsungDivision of Hematology and Oncology, University of Michigan, Ann Arbor, MI, USA.
Khurshid R GhaniDepartment of Urology, University of Michigan, Ann Arbor, MI, USA.
Charles B NguyenDepartment of Medical Oncology, City of Hope Comprehensive Cancer Center, Duarte, CA, USA.
Rob HumbleDepartment of Pathology, University of Michigan, Ann Arbor, MI, USA.
Matthew J SchiewerMyriad Genetics, Salt Lake City, UT, USA.
Robert FinchMyriad Genetics, Salt Lake City, UT, USA.
Simpa SalamiDepartment of Urology, University of Michigan, Ann Arbor, MI, USA.
Elena M StoffelDivision of Genetic Medicine, University of Michigan, Ann Arbor, MI, USA.
Todd M MorganDepartment of Urology, University of Michigan, Ann Arbor, MI, USA.
Thenappan ChandrasekarDepartment of Urology, University of California Davis, Sacramento, CA, USA.
Udit SinghalDepartment of Urology, University of Michigan, Ann Arbor, MI, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and objective: The prevalence and clinical history of germline variants in bladder cancer and upper tract urothelial cancer (UTUC) remains incompletely defined, particularly regarding mismatch repair (MMR) and homologous recombination repair (HRR) variants. This study aims to evaluate the prevalence of germline variants in patients with bladder cancer and/or UTUC referred for germline testing, and to report the personal and family cancer histories of patients with MMR (Lynch syndrome) and HRR variants. Methods: We retrospectively analyzed 3561 urothelial cancer patients (3130 with bladder cancer only, 370 with UTUC, and 61 with both) who underwent germline testing between 1996 and 2025 at Myriad Genetics. We describe the prevalence of pathogenic/likely pathogenic germline variants in patients with UTUC and bladder cancer, and characterize the personal and family cancer histories of patients with MMR ( Conclusions and clinical implications: Lynch syndrome is common in patients with UTUC; yet, many carriers present with bladder cancer alone. Personal and family cancer histories frequently precede urothelial cancer, underscoring the need for routine germline testing in UTUC and consideration of broader testing across urothelial cancer. Patient summary: Inherited genetic variants, especially those associated with Lynch syndrome, are common in patients with ureter and renal pelvis urothelial cancer. However, many patients with these variants have urothelial cancer of the bladder only. Broader genetic testing, particularly in those with a suggestive personal or family cancer history, may help identify patients at risk who might otherwise be missed.

Indexed as

Bladder cancerGermline testingGermline variantHereditary cancer syndromesHomologous recombination repairLynch syndromeMismatch repairUpper tract urothelial cancerUrothelial cancer

Identifiers

PMID41993145
PMCPMC13080474

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.