Evidence map›Paper›PMID 38976819›Full record

ArticleJCO precision oncology2024

Inherited Germline Variants in Urinary Tract Cancer: A Multicenter Whole-Exome Sequencing Analysis and Correlation With Clinical Features and Tumor Genomics.

Wendy Kohlmann, David A Nix, Kristen Pauley, Samantha Greenberg, Aaron Atkinson, Kenneth M Boucher, Jill Kolesar, Eric A Singer, Stephen B Edge, Michelle L Churchman and 11 more

Abstract readMulticenter Study
In one paragraph

Article in JCO precision oncology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Germline whole-exome sequencing revealsJournal for immunotherapy of cancer · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors.

Wendy KohlmannUniversity of Utah Huntsman Cancer Institute, Salt Lake City, UT.ORCID 0000-0002-9134-9640
David A NixUniversity of Utah Huntsman Cancer Institute, Salt Lake City, UT.
Kristen PauleyUniversity of Utah Huntsman Cancer Institute, Salt Lake City, UT.
Samantha GreenbergUniversity of Utah Huntsman Cancer Institute, Salt Lake City, UT.ORCID 0000-0003-4994-4793
Aaron AtkinsonUniversity of Utah Huntsman Cancer Institute, Salt Lake City, UT.
Kenneth M BoucherUniversity of Utah Huntsman Cancer Institute, Salt Lake City, UT.ORCID 0000-0003-2833-0127
Jill KolesarUniversity of Kentucky, Lexington, KY.ORCID 0000-0001-8575-4546
Eric A SingerRutgers Cancer Institute of New Jersey, Newark, NJ.
Stephen B EdgeRoswell Park Comprehensive Cancer Center, Buffalo, NY.ORCID 0000-0002-3285-6191
Michelle L ChurchmanAster Insights, Hudson, FL.ORCID 0000-0002-6560-1056
Laura GrahamUniversity of Colorado Cancer Center, Aurora, CO.ORCID 0000-0003-4371-572X
Bodour SalhiaDepartment of Translational Genomics, Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA.ORCID 0000-0003-3843-3621
Alejandro SanchezUniversity of Utah Huntsman Cancer Institute, Salt Lake City, UT.ORCID 0000-0002-9054-7346
Yousef ZakhariaUniversity of Iowa's Holden Comprehensive Cancer Center, Iowa City, IA.
Kenneth G NeppleUniversity of Iowa's Holden Comprehensive Cancer Center, Iowa City, IA.
Bryan P SchneiderUniversity of Iowa's Holden Comprehensive Cancer Center, Iowa City, IA.ORCID 0000-0003-1868-7739
Lindsey ByrneThe Ohio State University Comprehensive Cancer Center, Columbus, OH.
Rohit K JainMoffitt Cancer Center, Tampa, FL.
Jad ChahoudMoffitt Cancer Center, Tampa, FL.ORCID 0000-0002-8435-0264
Bing-Jian FengUniversity of Utah Huntsman Cancer Institute, Salt Lake City, UT.ORCID 0000-0002-6669-6640
Sumati GuptaUniversity of Utah Huntsman Cancer Institute, Salt Lake City, UT.ORCID 0000-0001-6271-0831

Funding

UTAH REGIONAL CANCER CENTERP30CA042014 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI KATHARINE S ULLMAN · 1986 to 2026
$72.6M
Targeting ARID1A mutated Urothelial CarcinomaI01BX005765 · VA · VA SALT LAKE CITY HEALTHCARE SYSTEM · PI Sumati Gupta · 2024 to 2026
–
BLRD VA I01 BX005765NCI NIH HHS P30 CA042014
6 · The paper itself

Abstract

purposeThis study investigates a real-world multicenter cohort of patients with urinary tract cancer (UTC), with primary disease sites including the bladder, urethra, and upper tract, who enrolled for research molecular testing of their germline and tumor. The purpose of this study was to evaluate factors that could affect the likelihood of identifying a clinically actionable germline pathogenic variant (PV).

methodsPatients with UTC were identified from 10 cancer institutes of the Oncology Research Information Exchange Network consortium. The data set comprised abstracted clinical data with germline and tumor genomic data, and comparative analyses were conducted.

resultsClinically actionable germline PVs in cancer predisposition genes were identified in 16 (4.5%) of 354 patients. A higher proportion of patients with the urethra and the upper tract as the primary sites of disease had PVs with a prevalence of 11% (5/45), compared with only 3.6% (11/308) in those with the bladder as the primary site of disease (

conclusionTissue-based assessment of genomic instability, such as MSI, does not reliably indicate germline PV. A comprehensive clinical germline testing approach that includes HRR genes in addition to MMR genes is likely to yield PVs in approximately one of 10 patients with nonbladder primary disease sites such as the upper tract and the urethra.

Indexed as

Exome SequencingGerm-Line MutationUrologic NeoplasmsAdultAgedAged, 80 and overCohort StudiesFemaleGenetic Predisposition to DiseaseGenomicsHumansMaleMiddle Aged

Identifiers

PMID38976819
PMCPMC11813167

What OpenQuestion holds

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Registered trials

None linked

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.