Evidence map›Paper›PMID 25111073›Full record

ArticleThe Prostate2014

Mutational landscape of candidate genes in familial prostate cancer.

Anna M Johnson, Kimberly A Zuhlke, Chris Plotts, Shannon K McDonnell, Sumit Middha, Shaun M Riska, Daniel J Schaid, Stephen N Thibodeau, Julie A Douglas, Kathleen A Cooney

Open access · greenAbstract read
In one paragraph

Article in The Prostate, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
2.4field-weighted citation impact, top 12% 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

12 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.

  1. A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020
    Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
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  8. Article
  9. Rare Variation in TET2 Is Associated with Clinically Relevant Prostate Carcinoma in African Americans.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2016
    Article
  10. Review
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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

10 authors at 2 institutions in 1 country.

Anna M JohnsonDepartment of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan.
Kimberly A Zuhlke
Chris Plotts
Shannon K McDonnell
Sumit Middha
Shaun M Riska
Daniel J Schaid
Stephen N Thibodeau
Julie A Douglas
Kathleen A Cooney
Mayo Clinic · USUniversity of Michigan–Ann Arbor · US

Funding

VACCINIA PSA FOR ANDROGEN-MODULATED POST-SURGICAL RECURRENCE OF PROSTATE CANCERP50CA069568 · NCI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI COONEY, KATHLEEN A · 1995 to 2013
$31.3M
Tissue/InformaticsP50CA186786 · NCI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Robert Timothy Dess · 2014 to 2026
$27.6M
Prostate Cancer Susceptibility: The ICPCG StudyU01CA089600 · NCI · MAYO CLINIC ROCHESTER · PI THIBODEAU, STEPHEN NORMAN · 2002 to 2016
$27.3M
NCI NIH HHS P50 CA069568NCI NIH HHS P50 CA186786NCI NIH HHS P50 CA69568NCI NIH HHS U01 CA089600
6 · The paper itself

Abstract

backgroundFamily history is a major risk factor for prostate cancer (PCa), suggesting a genetic component to the disease. However, traditional linkage and association studies have failed to fully elucidate the underlying genetic basis of familial PCa.

methodsHere, we use a candidate gene approach to identify potential PCa susceptibility variants in whole exome sequencing data from familial PCa cases. Six hundred ninety-seven candidate genes were identified based on function, location near a known chromosome 17 linkage signal, and/or previous association with prostate or other cancers. Single nucleotide variants (SNVs) in these candidate genes were identified in whole exome sequence data from 33 PCa cases from 11 multiplex PCa families (3 cases/family).

resultsOverall, 4,856 candidate gene SNVs were identified, including 1,052 missense and 10 nonsense variants. Twenty missense variants were shared by all three family members in each family in which they were observed. Additionally, 15 missense variants were shared by two of three family members and predicted to be deleterious by five different algorithms. Four missense variants, BLM Gln123Arg, PARP2 Arg283Gln, LRCC46 Ala295Thr and KIF2B Pro91Leu, and one nonsense variant, CYP3A43 Arg441Ter, showed complete co-segregation with PCa status. Twelve additional variants displayed partial co-segregation with PCa.

conclusionsForty-three nonsense and shared, missense variants were identified in our candidate genes. Further research is needed to determine the contribution of these variants to PCa susceptibility.

Indexed as

Codon, NonsenseMutation, MissenseAgedExomeGenetic Predisposition to DiseaseHumansMaleMiddle AgedProstatic NeoplasmsCodon, Nonsenseexome sequencingfamilial cancersusceptibility

Identifiers

PMID25111073
PMCPMC4142071
OpenAlexW1923855798

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.