Evidence map›Paper›PMID 22516946›Full record

ArticleBritish journal of cancer2012

Germline BRCA1 mutations increase prostate cancer risk.

D Leongamornlert, N Mahmud, M Tymrakiewicz, E Saunders, T Dadaev, E Castro, C Goh, K Govindasami, M Guy, L O'Brien and 8 more

Open access · hybridAbstract read
In one paragraph

Article in British journal of cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 159 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
159citing papers in PubMed, 8 pooled it
12.4field-weighted citation impact, top 1% 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

159 citing papers in PubMed, 8 syntheses or guidelines pooled it, 296 citations in OpenAlex.

  1. Pooled it
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  6. Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2018
    Guideline
  7. NCCN Guidelines Insights: Prostate Cancer Early Detection, Version 2.2016.Journal of the National Comprehensive Cancer Network : JNCCN · 2016
    Guideline
  8. Pooled it
  9. Article
  10. Observational
  11. International journal of molecular sciences · 2026
    Article
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99 more citing papers are in PubMed but not listed here.

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

18 authors at 3 institutions in 2 countries.

D LeongamornlertOncogenetics Team, The Institute of Cancer Research, Sutton SM2 5NG, UK.
N Mahmud
M Tymrakiewicz
E Saunders
T Dadaev
E Castro
C Goh
K Govindasami
M Guy
L O'Brien
E Sawyer
A Hall
R Wilkinson
D Easton
UKGPCS Collaborators
D Goldgar
R Eeles
Z Kote-Jarai
Institute of Cancer Research · GBRoyal Marsden NHS Foundation Trust · GBUniversity of Utah · US

Funding

Cancer Research UK 15007Cancer Research UK C1287/A10118Cancer Research UK C1287/A5260Cancer Research UK C16913/A6135Cancer Research UK C16913/A6835Cancer Research UK C5047/A10692Cancer Research UK C5047/A3354Cancer Research UK C5047/A7357Prostate Cancer UK G2011/36
6 · The paper itself

Abstract

backgroundProstate cancer (PrCa) is one of the most common cancers affecting men but its aetiology is poorly understood. Family history of PrCa, particularly at a young age, is a strong risk factor. There have been previous reports of increased PrCa risk in male BRCA1 mutation carriers in female breast cancer families, but there is a controversy as to whether this risk is substantiated. We sought to evaluate the role of germline BRCA1 mutations in PrCa predisposition by performing a candidate gene study in a large UK population sample set.

methodsWe screened 913 cases aged 36–86 years for germline BRCA1 mutation, with the study enriched for cases with an early age of onset. We analysed the entire coding region of the BRCA1 gene using Sanger sequencing. Multiplex ligation-dependent probe amplification was also used to assess the frequency of large rearrangements in 460 cases.

resultsWe identified 4 deleterious mutations and 45 unclassified variants (UV). The frequency of deleterious BRCA1 mutation in this study is 0.45%; three of the mutation carriers were affected at age 65 years and one developed PrCa at 69 years. Using previously estimated population carrier frequencies, deleterious BRCA1 mutations confer a relative risk of PrCa of ~3.75-fold, (95% confidence interval 1.02–9.6) translating to a 8.6% cumulative risk by age 65.

conclusionThis study shows evidence for an increased risk of PrCa in men who harbour germline mutations in BRCA1. This could have a significant impact on possible screening strategies and targeted treatments.

Indexed as

Genes, BRCA1Germ-Line MutationAdultAgedAged, 80 and overGenetic Predisposition to DiseaseHumansMaleMiddle AgedProstatic NeoplasmsRisk

Identifiers

PMID22516946
PMCPMC3349179
OpenAlexW2112211663

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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.