Evidence map›Paper›PMID 27030170›Full record

ArticleJournal of molecular medicine (Berlin, Germany)2016

High-performance detection of somatic D-loop mutation in urothelial cell carcinoma patients by polymorphism ratio sequencing.

David P Duberow, Mariana Brait, Mohammad O Hoque, Dan Theodorescu, David Sidransky, Santanu Dasgupta, Richard A Mathies

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of molecular medicine (Berlin, Germany), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.9field-weighted citation impact, top 15% of its field
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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Trial
  2. Mitochondrion: I am more than a fuel server.Annals of translational medicine · 2019
    Review
  3. Article
  4. Spotlight on the relevance of mtDNA in cancer.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2017
    Review
  5. Review
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

7 authors at 5 institutions in 1 country.

David P DuberowDepartment of Chemistry, University of California, 307 Lewis Hall, Berkeley, CA, 94720, USA.
Mariana BraitDepartment of Otolaryngology-Head and Neck Surgery, Head and Neck Cancer Research Division, Johns Hopkins University School of Medicine, Baltimore, MD, 21231, USA.
Mohammad O HoqueDepartment of Otolaryngology-Head and Neck Surgery, Head and Neck Cancer Research Division, Johns Hopkins University School of Medicine, Baltimore, MD, 21231, USA.
Dan TheodorescuDepartment of Pharmacology, University of Colorado Comprehensive Cancer Center, Aurora, CO, 80045, USA.
David SidranskyDepartment of Otolaryngology-Head and Neck Surgery, Head and Neck Cancer Research Division, Johns Hopkins University School of Medicine, Baltimore, MD, 21231, USA.
Santanu DasguptaDepartment of Cellular and Molecular Biology, The University of Texas Health Science Center at Tyler, Tyler, TX, USA. santanu.dasgupta@uthct.edu.
Richard A MathiesDepartment of Chemistry, University of California, 307 Lewis Hall, Berkeley, CA, 94720, USA. ramathies@berkeley.edu.
Johns Hopkins University · USUniversity of California, Berkeley · USJohns Hopkins Medicine · USThe University of Texas Health Science Center at Tyler · USUniversity of Colorado Denver · US

Funding

Tissue CoreP01CA077664 · NCI · JOHNS HOPKINS UNIVERSITY · PI MATHIES, RICHARD A · 1999 to 2009
$8.5M
Regulation and Targeting of CD24 in Bladder CancerR01CA075115 · NCI · UNIVERSITY OF VIRGINIA CHARLOTTESVILLE · PI THEODORESCU, DAN · 2003 to 2024
$7.0M
Miniaturized Integrated Genotyping MicrosystemsR01HG003329 · NHGRI · UNIVERSITY OF CALIFORNIA BERKELEY · PI MATHIES, RICHARD A · 2004 to 2008
$1.2M
MECHANISMS OF BLADDER CANCER INVANSIONR29CA075115 · NCI · UNIVERSITY OF VIRGINIA CHARLOTTESVILLE · PI THEODORESCU, DAN · 1997 to 2001
$217k
NCI NIH HHS P01 CA077664NCI NIH HHS R01 CA075115NCI NIH HHS R29 CA075115NHGRI NIH HHS R01 HG003329
6 · The paper itself

Abstract

unlabelledUtilizing a polymorphism ratio sequencing platform, we performed a complete somatic mutation analysis of the mitochondrial D-loop region in 14 urothelial cell carcinomas. A total of 28 somatic mutations, all heteroplasmic, were detected in 8 of 14 individuals (57.1 %). Insertion/deletion changes in unstable mono- and dinucleotide repeat segments comprise the most pervasive class of mutations (9 of 28), while two recurring single-base substitution loci were identified. Seven variants, mostly insertion/deletions, represent population shifts from a heteroplasmic germline toward dominance in the tumor. In four cases, DNA from matched urine samples was similarly analyzed, with all somatic variants present in associated tumors readily detectable in the bodily fluid. Consistent with previous findings, mutant populations in urine were similar to those detected in tumor and in three of four cases were more prominent in urine. KEY MESSAGES: PRS accurately detects high mtDNA mutations in UCCs and their body fluids. mtDNA mutations are universally heteroplasmic and often appear at low levels. The PRS technology could be a viable approach to develop mitochondrial biomarkers.

Indexed as

DNA, MitochondrialMutationPolymorphism, GeneticAllelesCarcinomaDNA Mutational AnalysisGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHumansUrologic NeoplasmsDNA, MitochondrialD-loopmtDNAPolymorphism ratio sequencingSomatic mutationUrothelial cell carcinoma

Identifiers

PMID27030170
PMCPMC8883517
OpenAlexW2332345978

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.