ArticleThe European respiratory journal2024
High risk of lung cancer in surfactant-related gene variant carriers.
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Article in The European respiratory journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 23 citations in OpenAlex.
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- The Genetic Landscape of Fibrotic Interstitial Lung Diseases: Clinical Implications and Diagnostic Challenges in Familial Pulmonary Fibrosis.Journal of clinical medicine · 2026Review
- High-Penetrance Rare Variants Underlying Familial Lung Cancer Risk: Insights From Genetic Epidemiology of Lung Cancer Consortium.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026Article
- Biomarker exploration for immunotherapy plus chemotherapy following resistance to third-generation EGFR-TKIs in lung adenocarcinoma.BMC cancer · 2026Article
- Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Targeting ABCA3 impedes tumor progression and EGFR-TKI resistance in EGFR-mutant LUAD.Cancer cell international · 2026Article
- Cancer risk in patients with pulmonary fibrosis and a rare telomere related gene variant.Respiratory research · 2026Article
- Advances in the Basic Sciences in Thoracic Oncology in the Last 20 Years and Their Translational Impact.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026Review
- Adult male patients withERJ open research · 2026Article
- Familial interstitial lung disease: emerging insights into screening and genetic risk.Frontiers in medicine · 2026Review
- Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients.Respirology (Carlton, Vic.) · 2026Article
- Genetic Familial Interstitial Lung Disease.Clinics in chest medicine · 2025Review
- Article
- The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults.Breathe (Sheffield, England) · 2025Review
- Interstitial Lung Disease and Lung Cancer Associated with a Monoallelic Novel Variant inAmerican journal of respiratory and critical care medicine · 2025Article
- Interstitial Lung Diseases and Lung Cancer: A Review on Similarities, Common Pathogenesis and Therapeutic Approach.Journal of personalized medicine · 2025Review
- Genetic Disorders of Surfactant Metabolism.NeoReviews · 2025Review
- Penetrance of interstitial lung disease and lung cancer in carriers ofERJ open research · 2025Article
- An update on diagnosis and treatments of childhood interstitial lung diseases.Breathe (Sheffield, England) · 2025Review
- Rare genetic interstitial lung diseases: a pictorial essay.European respiratory review : an official journal of the European Respiratory Society · 2024Review
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Authors and funding
46 authors at 17 institutions in 4 countries.
Alexandre BrudonService d'Oncologie Thoracique, Hôpital Bichat, AP-HP, Institut du Cancer AP-HP Nord, Paris, France.ORCID https://orcid.org/0009-0001-0168-1528
Marie LegendreUF de Génétique Moléculaire, Hôpital Armand Trousseau, AP-HP, Paris, France.ORCID https://orcid.org/0000-0003-2178-0846
Arthur MageauDépartement de Médecine Interne, Hôpital Bichat, AP-HP, Paris, France.
Julien BermudezService de Pneumologie, Centre de Compétences de Maladies Pulmonaires Rares et de Transplantation Pulmonaire, CHU Nord, AP-HM, Marseille, France.
Philippe BonniaudDepartment of Respiratory Diseases and Intensive Care, Reference Constitutive Center for Adult Rare Pulmonary Diseases, Dijon-Bourgogne University Hospital, University of Burgundy, Inserm UMR1231, Dijon, France.
Diane BouvryDépartement de Pneumologie, Hôpital Avicenne, AP-HP, Bobigny, France.
Jacques CadranelService de Pneumologie et Oncologie Thoracique, DMU APPROCHES, Hôpital Tenon, AP-HP, Paris, France.
Aurélie CazesDépartement d'Anatomie Pathologique, Hôpital Bichat, AP-HP, Paris, France.
Bruno CrestaniUniversité Paris Cité, Inserm UMR-S 1152 PHERE, Paris, France.ORCID https://orcid.org/0000-0002-2961-3455
Tristan DégotCentre de Référence pour les Maladies Respiratoires Rares RespiRare, Centre Hospitalier Intercommunal de Créteil, Créteil, France.
Céline DelestrainUniversité de Paris Est Créteil, Inserm IMRB, Créteil, France.
Rémi DieslerUniversité Claude Bernard Lyon 1, Lyon, France.ORCID https://orcid.org/0000-0003-0746-357X
Ralph EpaudCentre de Référence pour les Maladies Respiratoires Rares RespiRare, Centre Hospitalier Intercommunal de Créteil, Créteil, France.ORCID https://orcid.org/0000-0003-3830-1039
Quentin PhilippotUniversité Paris Cité, Inserm UMR-S 1152 PHERE, Paris, France.
Nathalie Théou-AntonUniversité Paris Cité, Paris, France.
Caroline KannengiesserDépartement de Génétique, Hôpital Bichat, AP-HP, Institut du Cancer AP-HP Nord, Paris, France.ORCID https://orcid.org/0000-0003-2155-9383
Ibrahima BaDépartement de Génétique, Hôpital Bichat, AP-HP, Institut du Cancer AP-HP Nord, Paris, France.
Marie-Pierre DebrayUniversité Paris Cité, Paris, France.ORCID https://orcid.org/0000-0003-2109-5662
Pascale FanenUniversité de Paris Est Créteil, Inserm IMRB, Créteil, France.ORCID https://orcid.org/0000-0002-3273-5349
Efrosine ManaliDépartement de Pneumologie Pédiatrique, Centre de Référence des Maladies Respiratoires Rares RespiRare, Paris, France.
Spyros PapirisGeneral University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Nadia NathanSorbonne Université, Inserm UMR-S 933, Maladies Génétiques d'Expression Pédiatrique, Paris, France.ORCID https://orcid.org/0000-0001-5149-7975
Serge AmselemUF de Génétique Moléculaire, Hôpital Armand Trousseau, AP-HP, Paris, France.
Antoine GondouinService de Pneumologie, Hôpital de Brabois, Vandoeuvre-les-Nancy, France.
Anne GuillaumotRespiratory and Intensive Care Unit, University Hospital Amiens, Amiens, France.ORCID https://orcid.org/0009-0006-4986-5701
Claire AndréjakEA 4294, AGIR, Jules Verne Picardy University, Amiens, France.
Stephane JouneauPediatrics Department, Pediatric Pulmonology, CHU Bordeaux, Bordeaux, France.ORCID https://orcid.org/0000-0002-1949-3461
Guillaume BeltramoDepartment of Respiratory Diseases and Intensive Care, Reference Constitutive Center for Adult Rare Pulmonary Diseases, Dijon-Bourgogne University Hospital, University of Burgundy, Inserm UMR1231, Dijon, France.ORCID https://orcid.org/0000-0003-2830-5642
Yurdagul UzunhanDépartement de Pneumologie, Hôpital Avicenne, AP-HP, Bobigny, France.ORCID https://orcid.org/0000-0002-1607-1407
François GalodéPneumonology and Thoracic Oncology Department, Eure-Seine Hospital Center, Évreux, France.
Virginie WesteelService de Pneumologie, Centre des Maladies Pulmonaires Rares, Hôpital de Besançon, Besançon, France.
Anas MehdaouiService de pneumologie, FHU Oncoage, Hôpital Pasteur - CHU Nice, Nice, France.
Sandrine HirschiService de Pneumologie, Groupe de Transplantation Pulmonaire, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Sylvie LeroyUniversité Nice Côte d'Azur, Nice, France.
Sylvain Marchand-AdamUniversité de Tours, Inserm U1100, Tours, France.ORCID https://orcid.org/0000-0002-9522-3738
Hilario NunesDépartement de Pneumologie, Hôpital Avicenne, AP-HP, Bobigny, France.
Clément PicardService de Pneumologie, Hôpital Larrey, Toulouse, France.
Grégoire PrévotService de Pneumologie, Hôpital Erasme, Brussels, Belgium.
Martine Reynaud-GaubertService de Pneumologie, Centre de Compétences de Maladies Pulmonaires Rares et de Transplantation Pulmonaire, CHU Nord, AP-HM, Marseille, France.
Paul De VuystService de Pneumologie et Immuno-allergie, Institut Coeur-Poumon, Lille, France.
Lidwine WemeauUniversité de Poitiers, Poitiers, France.
Gautier DefossezA. Brudon and M. Legendre contributed equally to this work.
Gérard ZalcmanService d'Oncologie Thoracique, Hôpital Bichat, AP-HP, Institut du Cancer AP-HP Nord, Paris, France.
Vincent CottinService de Pneumologie, Centre National Coordinateur de Référence des Pathologies Pulmonaires Rares, ERN-LUNG, Hôpital Louis Pradel, Hospices Civils de Lyon, Lyon, France.ORCID https://orcid.org/0000-0002-5591-0955
Raphael BorieUniversité Paris Cité, Inserm UMR-S 1152 PHERE, Paris, France raphael.borie@aphp.fr.ORCID https://orcid.org/0000-0002-9906-0024
OrphaLung network
Inserm · FRUniversité Paris Cité · FRAix-Marseille Université · FRCentre Hospitalier Universitaire de Besançon · FRErasmus Hospital · BEHôpitaux Universitaires de Strasbourg · FRNational and Kapodistrian University of Athens · GRUniversité Claude Bernard Lyon 1 · FRUniversité de Poitiers · FRAssistance Publique – Hôpitaux de Paris · FRCentre Hospitalier Universitaire Amiens-Picardie · FRCentre Hospitalier Universitaire de Bordeaux · FRCentre Hospitalier Universitaire de Nice · FRHôpital Larrey · FRHôpital Pasteur · FRSorbonne Université · FRUniversité de Tours · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSeveral rare surfactant-related gene (SRG) variants associated with interstitial lung disease are suspected to be associated with lung cancer, but data are missing. We aimed to study the epidemiology and phenotype of lung cancer in an international cohort of SRG variant carriers.
methodsWe conducted a cross-sectional study of all adults with SRG variants in the OrphaLung network and compared lung cancer risk with telomere-related gene (TRG) variant carriers.
resultsWe identified 99 SRG adult variant carriers (
conclusionsThe high risk of lung cancer among SRG variant carriers suggests specific screening and diagnostic and therapeutic challenges. The benefit of regular computed tomography scan follow-up should be evaluated.
Indexed as
Lung NeoplasmsPulmonary Surfactant-Associated Protein APulmonary Surfactant-Associated Protein CAdultAgedATP-Binding Cassette TransportersCross-Sectional StudiesFemaleGenetic Predisposition to DiseaseHeterozygoteHumansLung Diseases, InterstitialMaleMiddle AgedPulmonary Surfactant-Associated ProteinsRisk FactorsABCA3 protein, humanATP-Binding Cassette TransportersNKX2-1 protein, humanPulmonary Surfactant-Associated Protein APulmonary Surfactant-Associated Protein CPulmonary Surfactant-Associated ProteinsSFTPA1 protein, humanSFTPA2 protein, humanSFTPC protein, humanThyroid Nuclear Factor 1
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