Evidence map›Paper›PMID 40891997›Full record

ArticleBJU international2025

Prevalence of germline pathogenic variants in 779 patients with metastatic prostate cancer.

Michiel Vlaming, Wouter Koole, R Jeroen A van Moorselaar, Eveline M A Bleiker, Ellen van de Geer, Hanneke W M van Deutekom, Marjolijn J L Ligtenberg, Klaartje van Engelen, C Marleen Kets, Lizet E van der Kolk and 7 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in BJU international, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–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

2 citing papers in PubMed.

  1. Article
  2. 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

17 authors.

Michiel VlamingDivision Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.ORCID 0000-0001-7384-8043
Wouter KooleDivision Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
R Jeroen A van MoorselaarDepartment of Urology, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands.
Eveline M A BleikerDivision of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Ellen van de GeerDivision Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Hanneke W M van DeutekomDivision Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.ORCID 0000-0002-2429-1098
Marjolijn J L LigtenbergDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Klaartje van EngelenDepartment of Human Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
C Marleen KetsDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Lizet E van der KolkDepartment of Clinical Genetics, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Gina SchijvenDivision Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Niven MehraDepartment of Medical Oncology, Radboud University Medical Center, Nijmegen, The Netherlands.
M Arjen NoordzijDepartment of Urology, Spaarne Gasthuis, Haarlem, The Netherlands.
Richard P MeijerDepartment of Oncological Urology, University Medical Center Utrecht, Utrecht, The Netherlands.
Inge M van OortDepartment of Urology, University Medical Center Groningen, Groningen, The Netherlands.
Lambertus A L M KiemeneyDepartment of Urology, Radboud University Medical Center, Nijmegen, The Netherlands.
Margreet G E M AusemsDivision Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

Funding

KWF Kankerbestrijding
6 · The paper itself

Abstract

objectiveTo assess the prevalence of germline pathogenic variants (gPVs) in genes associated with female breast cancer in Dutch patients with metastatic prostate cancer (mPCa). PATIENTS AND

methodsIn this prospective multicentre cohort study (n = 15 centres), germline genetic testing of the genes BRCA1, BRCA2, ATM, CHEK2 and PALB2 was offered to patients with mPCa. We assessed the prevalence of gPVs and compared it to a reference population of 16 823 individuals who underwent genetic testing for non-oncological conditions. Additionally, we identified factors that increased the likelihood of carrying a gPV.

resultsA total of 779 patients with mPCa underwent germline genetic testing, of whom 46 (5.9%) had a gPV in a DNA damage repair gene. Most gPVs were found in CHEK2 (1100delC variant), ATM and BRCA2, all significantly more prevalent than in the reference population (odds ratios 2.4, 2.8 and 3.1, respectively). The prevalence of gPVs in BRCA1 and PALB2 was not significantly increased. Patients with a second primary cancer, a first- or second-degree relative with breast cancer at age < 50 years, or pancreatic cancer, or Jewish ancestry had the highest likelihood of carrying a gPV.

conclusionWe found that gPVs in CHEK2, ATM and BRCA2 were associated with men presenting with mPCa. Several factors increased the likelihood of carrying such a variant and, in these cases, healthcare professionals should be aware of the need to offer germline genetic testing.

Indexed as

Germ-Line MutationProstatic NeoplasmsAgedAtaxia Telangiectasia Mutated ProteinsBRCA1 ProteinBRCA2 ProteinCheckpoint Kinase 2Fanconi Anemia Complementation Group N ProteinFemaleGenetic Predisposition to DiseaseGenetic TestingHumansMaleMiddle AgedNetherlandsPrevalenceAtaxia Telangiectasia Mutated ProteinsATM protein, humanBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanCheckpoint Kinase 2CHEK2 protein, humanFanconi Anemia Complementation Group N ProteinPALB2 protein, humanbreast cancercascade testinggermline pathogenic varianthereditymetastatic prostate cancer

Identifiers

PMID40891997
PMCPMC12606540

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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.