Evidence map›Paper›PMID 40844318›Full record

ArticleInternational journal of cancer2025

Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.

Huairen Zhang, Bryndis Yngvadottir, Avgi Andreou, Yasemin Cole, Emma R Woodward, James Whitworth, Eamonn R Maher

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. 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

7 authors.

Huairen ZhangDepartment of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Bryndis YngvadottirDepartment of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Avgi AndreouDepartment of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Yasemin ColeDepartment of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Emma R WoodwardManchester Centre for Genomic Medicine, and Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK.
James WhitworthDepartment of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Eamonn R MaherDepartment of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, UK.ORCID 0000-0002-6226-6918

Funding

Cancer Research UK Cambridge Cancer CentreGates Cambridge ScholarshipManchester Biomedical Research Centre NIHR203308Medical Research CouncilNIH Oxford-Cambridge Scholars Program.NIHR Cambridge Biomedical Research Centre BRC-1215-20014VHL UK/IrelandWellcome Trust
6 · The paper itself

Abstract

Multiple primary tumours (MPT) is a risk factor for an underlying predisposition to cancer. Renal cell carcinoma (RCC) occurs in several hereditary cancer disorder syndromes, and RCC-related MPT comprise individuals with multiple primary renal tumours (MPRT) and those with RCC plus a non-renal tumour (MPT:RCC + X). Excluding rare syndromic causes, knowledge of the genetic architecture of MPRT/MPT:RCC + X is limited. To inform diagnostic approaches to MPRT/MPT:RCC + X, we present the findings of comprehensive genomic analysis in 534 individuals. The presence/absence of variants in cancer susceptibility genes (CSGs) from exome/genome sequencing was then correlated with data on age, sex, tumour types, and RCC histopathology in 93 participants with MPRT and 441 with MPT:RCC + X. 7.5% of participants with MPRT and 6.1% in participants with MPT:RCC + X had germline CSG pathogenic variants, and the diagnostic yields increased to 9.4% and 10.4%, respectively, in cases with RCC <66 years. Excluding participants with environmental carcinogen-linked cancers increased the diagnostic yield in MPT:RCC + X to 12.9%. Pathogenic variants were mostly in CSGs known to predispose to RCC, but in almost half of these cases, typical extrarenal tumours were not present. In conclusion, our findings support amended eligibility criteria for diagnostic testing in MPRT and wider eligibility criteria for testing in MPT:RCC + X, with RCC <66 years.

Indexed as

Carcinoma, Renal CellKidney NeoplasmsNeoplasms, Multiple PrimaryAdultAgedAged, 80 and overCohort StudiesExome SequencingFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansMaleMiddle Agedcancergenetic testinggenomicskidneymutation

Identifiers

PMID40844318
PMCPMC12541567

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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.