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<datestamp>2018-01-11</datestamp>
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<publisher>HAL CCSD</publisher>
<title lang=en>Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis</title>
<creator>Borie, R.</creator>
<creator>Tabèze, L.</creator>
<creator>Thabut, G.</creator>
<creator>Nunes, H.</creator>
<creator>Cottin, V.</creator>
<creator>Marchand-Adam, S.</creator>
<creator>Prévot, G.</creator>
<creator>Tazi, A.</creator>
<creator>Cadranel, J.</creator>
<creator>Mal, H.</creator>
<creator>Wemeau-Stervinou, Lidwine </creator>
<creator>Bergeron Lafaurie, Anne</creator>
<creator>Israel-Biet, D.</creator>
<creator>Picard, C.</creator>
<creator>Reynaud Gaubert, Martine </creator>
<creator>Jouneau, S.</creator>
<creator>Naccache, J.-M.</creator>
<creator>Mankikian, J.</creator>
<creator>Ménard, C.</creator>
<creator>Cordier, J.-F.</creator>
<creator>Valeyre, D.</creator>
<creator>Reocreux, M.</creator>
<creator>Grandchamp, B.</creator>
<creator>Revy, P.</creator>
<creator>Kannengiesser, C.</creator>
<creator>Crestani, B.</creator>
<contributor>Physiopathologie et Epidémiologie des Maladies Respiratoires ; Université Paris Diderot - Paris 7 (UPD7) - Institut National de la Santé et de la Recherche Médicale (INSERM)</contributor>
<contributor>Service de Pneumologie A ; Hôpital Bichat - Claude Bernard [Paris] - Centre de compétence des maladies pulmonaires rares</contributor>
<contributor>Service de pneumologie B ; Assistance publique - Hôpitaux de Paris (AP-HP) - Hôpital Bichat - Claude Bernard [Paris] - Université Paris Diderot - Paris 7 (UPD7)</contributor>
<contributor>Service de médecine nucléaire [Bobigny] ; Assistance publique - Hôpitaux de Paris (AP-HP) - Hôpital Avicenne - Université Paris 13 (UP13)</contributor>
<contributor>Centre de Référence des Maladies Pulmonaires Rares [bron] ; Hôpital Louis Pradel [Lyon]</contributor>
<contributor>Department of Pneumology [Lyon] ; Hospices Civils de Lyon</contributor>
<contributor>Pathologies Respiratoires : Protéolyse et Aérosolthérapie ; Université François Rabelais - Tours - Institut National de la Santé et de la Recherche Médicale (INSERM)</contributor>
<contributor>CHU, Hôpital Larrey</contributor>
<contributor>Service de pneumologie [Saint-Louis] ; Assistance publique - Hôpitaux de Paris (AP-HP) - Groupe Hospitalier Saint-Louis-Lariboisière- Fernand-Widal - Université Paris Diderot - Paris 7 (UPD7)</contributor>
<contributor>Service de pneumologie et réanimation [CHU Tenon] ; Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Tenon [APHP]</contributor>
<contributor>Theranoscan ; Université Pierre et Marie Curie - Paris 6 (UPMC)</contributor>
<contributor>Service d'oncologie médicale (CHRU Lille) ; Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)</contributor>
<contributor>Assistance Publique-Hôpitaux de Paris; Hôpital Européen Georges Pompidou; Service de Pneumologie; Paris ; Assistance Publique-Hôpitaux de Paris; Hôpital Européen Georges Pompidou; Service de Pneumologie; Paris</contributor>
<contributor>Etablissement Français du Sang - Alpes-Méditerranée (EFS - Alpes-Méditerranée) ; Etablissement Français du Sang</contributor>
<contributor>Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES) ; Aix Marseille Université (AMU) - EFS ALPES MEDITERRANEE - Centre National de la Recherche Scientifique (CNRS)</contributor>
<contributor>CHU Marseille</contributor>
<contributor>Institut de recherche, santé, environnement et travail [Rennes] (Irset) ; Université d'Angers (UA) - Université des Antilles et de la Guyane (UAG) - Université de Rennes 1 (UR1) - École des Hautes Études en Santé Publique [EHESP] (EHESP) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )</contributor>
<contributor>Centre d'Investigation Clinique [Rennes] (CIC) ; Université de Rennes 1 (UR1) - Hôpital Pontchaillou - Institut National de la Santé et de la Recherche Médicale (INSERM)</contributor>
<contributor>Microenvironnement et cancer (MiCa) ; Université de Rennes 1 (UR1) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )</contributor>
<contributor>Université Claude Bernard Lyon 1 (UCBL)</contributor>
<contributor>Hôpital Louis-Pradel [Lyon] ; Université Claude Bernard Lyon 1 (UCBL) - Hospices Civils de Lyon - Hôpital Louis-Pradel</contributor>
<contributor>Service des maladies respiratoires ; Assistance publique - Hôpitaux de Paris (AP-HP) - Groupe Hospitalier Avicenne-Jean Verdier-René Muret</contributor>
<contributor>Hôpital Bichat - Claude Bernard ; Assistance publique - Hôpitaux de Paris (AP-HP) - Hôpital Bichat - Claude Bernard [Paris] - Université Paris Diderot - Paris 7 (UPD7)</contributor>
<contributor>OMMIC S.A.S. ; OMMIC SAS</contributor>
<contributor>Developpement Normal et Pathologique du Système Immunitaire ; Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS)</contributor>
<contributor>Physiopathologie et Epidemiologie de l'Insuffisance Respiratoire ; Université Paris Diderot - Paris 7 (UPD7) - Institut National de la Santé et de la Recherche Médicale (INSERM)</contributor>
<contributor>Département Hospitalo-universtaire FIRE (Fibrosis, Inflammation and Remodeling) ; LabEx Inflamex</contributor>
<contributor>Service de pneumologie A ; Assistance publique - Hôpitaux de Paris (AP-HP) - Université Paris Diderot - Paris 7 (UPD7) - Hôpital Bichat</contributor>
<description>International audience</description>
<source>ISSN: 0903-1936</source>
<source>EISSN: 1399-3003</source>
<source>European Respiratory Journal</source>
<publisher>European Respiratory Society</publisher>
<identifier>hal-01467555</identifier>
<identifier>https://hal-univ-rennes1.archives-ouvertes.fr/hal-01467555</identifier>
<identifier>https://hal-univ-rennes1.archives-ouvertes.fr/hal-01467555/document</identifier>
<identifier>https://hal-univ-rennes1.archives-ouvertes.fr/hal-01467555/file/Prevalence%20and%20characteristics%20of%20TERT.pdf</identifier>
<source>https://hal-univ-rennes1.archives-ouvertes.fr/hal-01467555</source>
<source>European Respiratory Journal, European Respiratory Society, 2016, 48 (6), pp.1721--1731. 〈10.1183/13993003.02115-2015〉</source>
<identifier>DOI : 10.1183/13993003.02115-2015</identifier>
<relation>info:eu-repo/semantics/altIdentifier/doi/10.1183/13993003.02115-2015</relation>
<identifier>PUBMED : 27836952</identifier>
<relation>info:eu-repo/semantics/altIdentifier/pmid/27836952</relation>
<language>en</language>
<subject>[SDV] Life Sciences [q-bio]</subject>
<subject>[SDV.EE] Life Sciences [q-bio]/Ecology, environment</subject>
<type>info:eu-repo/semantics/article</type>
<type>Journal articles</type>
<description lang=en>Telomerase reverse transcriptase (TERT) or telomerase RNA (TERC) gene mutation is a major monogenic cause of pulmonary fibrosis. Sequencing of TERT/TERC genes is proposed to patients with familial pulmonary fibrosis. Little is known about the possible predictors of this mutation and its impact on prognosis. We retrospectively analysed all the genetic diagnoses made between 2007-2014 in patients with pulmonary fibrosis. We evaluated the prevalence of TERT/TERC disease-Associated variant (DAV), factors associated with a DAV, and the impact of the DAV on survival. 237 patients with pulmonary fibrosis (153 with familial pulmonary fibrosis, 84 with telomere syndrome features without familial pulmonary fibrosis) were tested for TERT/TERC DAV. DAV was diagnosed in 40 patients (16.8%), including five with non-idiopathic interstitial pneumonia. Prevalence of TERT/TERC DAV did not significantly differ between patients with familial pulmonary fibrosis or with only telomere syndrome features (18.2% versus 16.4%). Young age, red blood cell macrocytosis, and low platelet count were associated with the presence of DAV; the probability of DAV was increased for patients 40-60 years. Transplant-free survival was lower with than without TERT/TERC DAV (4.2 versus 7.2 years; p=0.046). TERT/TERC DAV were associated with specific clinical and biological features and reduced transplantfree survival. ©ERS 2016.</description>
<date>2016</date>
</dc>
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