Evidence map›Paper›PMID 41472358›Full record

ArticleInternational journal of cancer2026

Integrating polygenic and methylation risk scores for pleural mesothelioma risk stratification.

Khadija Sana Hafeez, Carla Debernardi, Alessandra Allione, Elton Jalis Herman, Simonetta Guarrera, Daniela Ferrante, Anna Aspesi, Marika Sculco, Marta La Vecchia, Carlotta Sacerdote and 17 more

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Article in International journal of cancer, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors.

Khadija Sana HafeezDepartment of Medical Sciences, University of Turin, Turin, Italy.
Carla DebernardiDepartment of Medical Sciences, University of Turin, Turin, Italy.ORCID https://orcid.org/0000-0002-7573-3693
Alessandra AllioneDepartment of Medical Sciences, University of Turin, Turin, Italy.
Elton Jalis HermanDepartment of Medical Sciences, University of Turin, Turin, Italy.ORCID https://orcid.org/0009-0004-6349-1764
Simonetta GuarreraItalian Institute for Genomic Medicine, IIGM, Turin, Italy.ORCID https://orcid.org/0000-0003-4400-1817
Daniela FerranteDepartment of Translational Medicine, Unit of Medical Statistics and Cancer Epidemiology, University of Eastern Piedmont, CPO-Piedmont, Novara, Italy.
Anna AspesiDepartment of Health Sciences, Università del Piemonte Orientale, Novara, Italy.
Marika SculcoDepartment of Health Sciences, Università del Piemonte Orientale, Novara, Italy.
Marta La VecchiaDepartment of Health Sciences, Università del Piemonte Orientale, Novara, Italy.
Carlotta SacerdoteDepartment of Health Sciences, Università del Piemonte Orientale, Novara, Italy.ORCID https://orcid.org/0000-0002-8008-5096
Federica GrossoMesothelioma Unit, AO SS. Antonio e Biagio e Cesare Arrigo, Alessandria, Italy.
Christina M LillAgeing Epidemiology Research Unit, School of Public Health, Imperial College, London, UK.
Giovanna MasalaClinical Epidemiology Unit, Institute for Cancer Research, Prevention and Clinical Network (Ispro), Florence, Italy.ORCID https://orcid.org/0000-0002-5758-9069
Marcela GuevaraNavarra Institute of Public and Labor Health, Pamplona, Spain.
Matthias B SchulzeDepartment of Molecular Epidemiology, German Institute of Human Nutrition Potsdam-Rehbruecke, Nuthetal, Germany.
Salvatore PanicoFederico Ii University, Naples, Italy.
Yaszan AsgariParis-Saclay University, Uvsq, Inserm, Gustave Roussy, Cesp, Villejuif, France.
Seehyun ParkParis-Saclay University, Uvsq, Inserm, Gustave Roussy, Cesp, Villejuif, France.ORCID https://orcid.org/0000-0002-7278-7469
Giovanna TagliabueCancer Registry Unit, IRCCS Foundation National Cancer Institute of Milan, Milan, Italy.
Anne TjønnelandDanish Cancer Institute, Copenhagen, Denmark.
Antonio AgudoUnit of Nutrition and Cancer, Catalan Institute of Oncology, ICO, L'Hospitalet de Llobregat, Spain.
Elisabete WeiderpassInternational Agency for Research on Cancer, World Health Organization, Lyon, France.ORCID https://orcid.org/0000-0003-2237-0128
Corrado MagnaniDepartment of Translational Medicine, Unit of Medical Statistics and Cancer Epidemiology, University of Eastern Piedmont, CPO-Piedmont, Novara, Italy.
Irma DianzaniDepartment of Health Sciences, Università del Piemonte Orientale, Novara, Italy.
Paolo VineisDepartment of Epidemiology and Biostatistics, School of Public Health, MCR Centre for Environment and Health, Imperial College London, London, UK.
Elisabetta CasaloneDepartment of Medical Sciences, University of Turin, Turin, Italy.
Giuseppe MatulloDepartment of Medical Sciences, University of Turin, Turin, Italy.ORCID https://orcid.org/0000-0003-0674-7757

Funding

Associazione Italiana per la Ricerca sul Cancro (AIRC) (Giuseppe Matullo) IG 2018-ID 21390"Genoma mEdiciNa pERsonalizzatA-GENERA" project, Ministero della Salute, under grant agreement POS GENERA (Giuseppe Matullo) (T3-AN-04)-CUPD73C22000960001HERMES (Hereditary Risk in MESothelioma) Project, funded by the offer of compensation to the inhabitants of Casale Monferrato deceased or affected by mesothelioma (to Irma Dianzani and Corrado Magnani)World Health Organization 001
6 · The paper itself

Abstract

Pleural mesothelioma (PM) is a lethal cancer primarily caused by asbestos exposure. Not all exposed individuals develop PM, suggesting the involvement of additional factors. This underscores the need for robust predictive models integrating biomarkers from multi-omic domains to improve risk stratification and early detection. We developed and evaluated polygenic risk scores (PRS) and methylation risk scores (MRS) using a retrospective case-control study (749 participants: 387 PM cases, 362 controls) and a nested case-control European Prospective Investigation into Cancer and Nutrition (EPIC)-Meso study (268 participants: 134 preclinical PM cases, 134 matched controls) within the EPIC cohort. Genome-wide association analyses in the retrospective case-control study identified PM-associated variants. The PRS (1123 SNPs with p < 0.001) in the retrospective training subset stratified disease risk in the test set (ORs 3.46-9.54 across top percentiles) and improved model discrimination (AUC = 0.75 vs. 0.71 in baseline model, p = 0.04). In EPIC-Meso, PRS performance was limited (AUC = 0.52). External validation in the UK-Biobank (UKBB) confirmed a modest but consistent association with PM-risk. A Meta-PRS derived from the UKBB-FinnGen meta-analysis replicated this trend in the full retrospective dataset, showing higher OR across top percentiles (2.5-12.3) and improved discrimination (AUC 0.74 vs. 0.72, p = 0.016). MRS, with 68 differentially methylated CpGs (effect-size >|0.10|, FDR p < 0.05) in the retrospective training set, increased the AUC from 0.66 to 0.85 (p < 0.001) in the test set and from 0.51 to 0.62 in EPIC-Meso. PRS was most predictive in low-exposure groups, while MRS remained robust across exposure levels. Combined PRS-MRS models improved discrimination. Integrating multi-omic biomarkers can enhance PM-risk stratification and support earlier, targeted interventions in high-risk asbestos-exposed groups.

Indexed as

DNA MethylationLung NeoplasmsMesotheliomaMultifactorial InheritancePleural NeoplasmsAgedAsbestosBiomarkers, TumorCase-Control StudiesFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMesothelioma, MalignantMiddle AgedAsbestosBiomarkers, Tumorgenome‐wide association analyses (GWAS)methylation risk score (MRS)pleural mesothelioma (PM)polygenic risk score (PRS)risk assessment

Identifiers

PMID41472358
PMCPMC13047241

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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.