Evidence map›Paper›PMID 29356034›Full record

ArticleThe Prostate2018

Rare germline mutations in African American men diagnosed with early-onset prostate cancer.

Jennifer L Beebe-Dimmer, Kimberly A Zuhlke, Anna M Johnson, Daniel Liesman, Kathleen A Cooney

Open access · bronzeAbstract read
In one paragraph

Article in The Prostate, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.4field-weighted citation impact, top 17% 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

14 citing papers in PubMed, 30 citations in OpenAlex.

  1. The Genetic and Molecular Analyses of Rare Candidate GermlineInternational journal of molecular sciences · 2026
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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

5 authors at 3 institutions in 1 country.

Jennifer L Beebe-DimmerPopulation Studies and Disparities Research Program, Karmanos Cancer Institute, Detroit, Michigan, 48201.ORCID 0000-0002-4320-739X
Kimberly A ZuhlkeUniversity of Michigan Comprehensive Cancer Center, Ann Arbor, Michigan, 48109.
Anna M JohnsonUniversity of Michigan Comprehensive Cancer Center, Ann Arbor, Michigan, 48109.
Daniel LiesmanUniversity of Michigan Comprehensive Cancer Center, Ann Arbor, Michigan, 48109.
Kathleen A CooneyDepartment of Internal Medicine, Cancer Institute, University of Utah School of Medicine and the Huntsman Cancer, Salt Lake City, Utah, 84132.
University of Michigan · USUniversity of Utah · USWayne State University · US

Funding

Tumor Biology and Microenvironment (Program 1)P30CA022453 · NCI · WAYNE STATE UNIVERSITY · PI PAUL M STEMMER · 1985 to 2026
$68.4M
NCI NIH HHS P30 CA022453
6 · The paper itself

Abstract

backgroundAfrican Americans have both a higher incidence of prostate cancer and greater disease-specific mortality compared with non-Hispanic whites. Historically, the investigation of the contribution of rare genetic variants to prostate cancer in African American men has been hampered by low participation in large genetic studies, particularly those focused on early-onset and familial disease.

methodsWe sequenced 160 genes purported to be involved in carcinogenic pathways in germline DNA samples collected from 96 African American men diagnosed with early-onset prostate cancer (≤55 years at diagnosis). REVEL software was used to determine the pathogenic potential of observed missense variants.

resultsWe observed three protein-truncating mutations, one in BRCA2 and two in BRIP1 in three African American men diagnosed with early-onset prostate cancer. Furthermore, we observed five rare, mostly private, missense variants among four genes (BRCA1, BRCA2, PMS2, and ATM) that were predicted to be deleterious and hence likely pathogenic in our patient sample.

conclusionsProtein-truncating mutations in BRCA2 and BRIP1 were discovered in African American men diagnosed with early-onset prostate cancer. Further study is necessary to determine the role of rare, missense variants to prostate cancer incidence, and progression in this group of high-risk men.

Indexed as

Germ-Line MutationAdultAtaxia Telangiectasia Mutated ProteinsBlack or African AmericanBRCA2 ProteinDNA, NeoplasmFanconi Anemia Complementation Group ProteinsHumansMaleMiddle AgedMismatch Repair Endonuclease PMS2Mutation, MissenseProstatic NeoplasmsRNA HelicasesAtaxia Telangiectasia Mutated ProteinsATM protein, humanBRCA2 ProteinBRCA2 protein, humanBRIP1 protein, humanDNA, NeoplasmFanconi Anemia Complementation Group ProteinsMismatch Repair Endonuclease PMS2PMS2 protein, humanRNA HelicasesATMBRCA1BRCA2BRIP1racial disparities genetic epidemiology

Identifiers

PMID29356034
PMCPMC6912854
OpenAlexW2793025466

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.