Evidence map›Paper›PMID 23833122›Full record

ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2013

Germline missense variants in the BTNL2 gene are associated with prostate cancer susceptibility.

Liesel M Fitzgerald, Akash Kumar, Evan A Boyle, Yuzheng Zhang, Laura M McIntosh, Suzanne Kolb, Marni Stott-Miller, Tiffany Smith, Danielle M Karyadi, Elaine A Ostrander and 3 more

Abstract read
In one paragraph

Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
–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

22 citing papers in PubMed, 1 synthesis or guideline pooled it.

  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. The impact of DNA input amount and DNA source on the performance of whole-exome sequencing in cancer epidemiology.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2015
    Trial
  3. Review
  4. Article
  5. Butyrophilins: Dynamic Regulators of Protective T Cell Immunity in Cancer.International journal of molecular sciences · 2023
    Review
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
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  17. Altered expression of Butyrophilin (Immunity, inflammation and disease · 2016
    Article
  18. Review
  19. Review
  20. Automated analysis of immunohistochemistry images identifies candidate location biomarkers for cancers.Proceedings of the National Academy of Sciences of the United States of America · 2014
    Article
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

13 authors.

Liesel M FitzgeraldDivision of Public Health Sciences, University of Washington, Seattle, Washington, USA.
Akash Kumar
Evan A Boyle
Yuzheng Zhang
Laura M McIntosh
Suzanne Kolb
Marni Stott-Miller
Tiffany Smith
Danielle M Karyadi
Elaine A Ostrander
Li Hsu
Jay Shendure
Janet L Stanford

Funding

TRANSCRIPTOME AND PROTEOME STRATIFICATION OF PROSTATE ADENOCARCINOMA PHENOTYPESP50CA097186 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI John Kyung Lee · 2002 to 2026
$58.1M
University of Washington Medical Scientist Training Program: MD/PhDT32GM007266 · NIGMS · UNIVERSITY OF WASHINGTON · PI HORWITZ, MARSHALL S. · 1985 to 2023
$30.4M
Finding Genes for Human Prostate CancerZIAHG200325 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI OSTRANDER, ELAINE · 2009 to 2021
$17.7M
Northwest Genomics CenterRC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2009 to 2009
$11.0M
Comprehensive Sequencing and Analysis of Variation in NHLBI CohortsRC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2009 to 2009
$10.2M
GENETIC EPIDEMIOLOGY OF PROSTATE CANCERR01CA080122 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI STANFORD, JANET L · 1999 to 2008
$3.8M
ARRA - NHLBI Lung Cohorts Sequencing ProjectRC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2009 to 2009
$2.6M
WHI Sequencing Project (WHISP)RC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2009 to 2009
$2.1M
Human Exome Sequencing in Six Well-Phenotyped NHLBI CohortsRC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2009 to 2009
$817k
NCI NIH HHS P50 CA097186NCI NIH HHS R01 CA080122NHGRI NIH HHS HHSN268200782096CNHLBI NIH HHS RC2 HL-102923NHLBI NIH HHS RC2 HL102923NHLBI NIH HHS RC2 HL-102924NHLBI NIH HHS RC2 HL102924NHLBI NIH HHS RC2 HL-102925NHLBI NIH HHS RC2 HL102925NHLBI NIH HHS RC2 HL-102926NHLBI NIH HHS RC2 HL102926NHLBI NIH HHS RC2 HL-103010NHLBI NIH HHS RC2 HL103010NIGMS NIH HHS T32 GM007266
6 · The paper itself

Abstract

backgroundRare, inherited mutations account for 5% to 10% of all prostate cancer cases. However, to date, few causative mutations have been identified.

methodsTo identify rare mutations for prostate cancer, we conducted whole-exome sequencing (WES) in multiple kindreds (n = 91) from 19 hereditary prostate cancer (HPC) families characterized by aggressive or early-onset phenotypes. Candidate variants (n = 130) identified through family- and bioinformatics-based filtering of WES data were then genotyped in an independent set of 270 HPC families (n = 819 prostate cancer cases; n = 496 unaffected relatives) for replication. Two variants with supportive evidence were subsequently genotyped in a population-based case-control study (n = 1,155 incident prostate cancer cases; n = 1,060 age-matched controls) for further confirmation. All participants were men of European ancestry.

resultsThe strongest evidence was for two germline missense variants in the butyrophilin-like 2 (BTNL2) gene (rs41441651, p.Asp336Asn and rs28362675, p.Gly454Cys) that segregated with affection status in two of the WES families. In the independent set of 270 HPC families, 1.5% (rs41441651; P = 0.0032) and 1.2% (rs28362675; P = 0.0070) of affected men, but no unaffected men, carried a variant. Both variants were associated with elevated prostate cancer risk in the population-based study (rs41441651: OR, 2.7; 95% CI, 1.27-5.87; P = 0.010; rs28362675: OR, 2.5; 95% CI, 1.16-5.46; P = 0.019).

conclusionsResults indicate that rare BTNL2 variants play a role in susceptibility to both familial and sporadic prostate cancer. IMPACT: Results implicate BTNL2 as a novel prostate cancer susceptibility gene.

Indexed as

Germ-Line MutationMutation, MissenseAgedButyrophilinsCase-Control StudiesGenetic Predisposition to DiseaseGenotypeHumansMaleMembrane GlycoproteinsMiddle AgedProstatic NeoplasmsRisk FactorsBTNL2 protein, humanButyrophilinsMembrane Glycoproteins

Identifiers

PMID23833122
PMCPMC3769499

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Registered trials

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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.