Publications

Publications

Predisposition to prostate cancer and clinical implications in a real-life cohort

Julie Chartier , Albain Chansavang , Anne Jouinot , Nadim Hamzaoui , Arunya Srikaran et al.

European Journal of Human Genetics, 2025, 33 (9), pp.1163-1172. ⟨10.1038/s41431-025-01859-0⟩

Article dans une revue hal-05409962v1

PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series

Patricia Vaduva , Lucas Bouys , Anne Jouinot , Stephanie Espiard , Albain Chansavang et al.

Journal of Clinical Endocrinology and Metabolism, 2025, 110 (9), pp.e2946-e2955. ⟨10.1210/clinem/dgae918⟩

Article dans une revue hal-05409999v1
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The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update

Lucas Bouys , Anna Vaczlavik , Isadora P Cavalcante , Florian Violon , Anne Jouinot et al.

Orphanet Journal of Rare Diseases, 2025, 20 (1), pp.51. ⟨10.1186/s13023-025-03554-1⟩

Article dans une revue hal-05109542v1

KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlation

Lucas Bouys , Patricia Vaduva , Anne Jouinot , Florian Violon , Anna Vaczlavik et al.

European Journal of Endocrinology, 2025, 192 (2), pp.119-127. ⟨10.1093/ejendo/lvaf016⟩

Article dans une revue hal-04994758v1
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Impact of steroid differentiation on tumor microenvironment revealed by single-nucleus atlas of adrenal tumors

Anne Jouinot , Yoann Martin , Florian Violon , Thomas Foulonneau , Yanis Bendjelal et al.

Nature Communications, 2025, 16 (1), pp.8860. ⟨10.1038/s41467-025-63912-2⟩

Article dans une revue inserm-05306456v1
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Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants

Laurence Pacot , Marinus Blok , Dominique Vidaud , Laura Fertitta , Ingrid Laurendeau et al.

Journal of Medical Genetics, 2025, 62 (12), pp.783-793. ⟨10.1136/jmg-2025-110783⟩

Article dans une revue hal-05249548v1

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review

Laurence Pacot , Milind Girish , Samantha Knight , Gill Spurlock , Vinod Varghese et al.

BMC Medical Genomics, 2024, 17 (1), pp.73. ⟨10.1186/s12920-024-01843-5⟩

Article dans une revue hal-04601037v1
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Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review

Benjamin Chevalier , Lucie Coppin , Pauline Romanet , Thomas Cuny , Jean-Christophe Maïza et al.

Journal of Clinical Endocrinology and Metabolism, 2024, ⟨10.1210/clinem/dgae055⟩

Article dans une revue hal-04522637v1

Identification of potential common genetic modifiers of neurofibromas: a genome wide association study in 1,333 neurofibromatosis type 1 patients

Laurence Pacot , Audrey Sabbagh , Pierre Sohier , Djihad Hadjadj , Manuela Ye et al.

British Journal of Dermatology, 2023, ⟨10.1093/bjd/ljad390⟩

Article dans une revue cea-04334212v1
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Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency

Léa Guerrini-Rousseau , Eric Pasmant , Martine Muleris , Samuel Abbou , Tiphaine Adam-De-Beaumais et al.

Journal of Medical Genetics, 2023, pp.jmg-2023-109235. ⟨10.1136/jmg-2023-109235⟩

Article dans une revue hal-04246320v1
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Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients

Lucas Bouys , Anna Vaczlavik , Anne Jouinot , Patricia Vaduva , Stéphanie Espiard et al.

European Journal of Endocrinology, 2023, 187 (1), pp.123-134. ⟨10.1530/EJE-21-1032⟩

Article dans une revue hal-03982784v1

Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

Laurence Pacot , Albain Chansavang , Sébastien Jacques , Ingrid Laurendeau , Djihad Hadjadj et al.

European Journal of Human Genetics, 2023, 31 (4), pp.380-382. ⟨10.1038/s41431-023-01304-0⟩

Article dans une revue inserm-04432776v1
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Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?

Lucie Coppin , Sophie Giraud , Eric Pasmant , Arnaud Lagarde , Marie-Odile North et al.

European Journal of Endocrinology, 2023, 187 (1), pp.K1-K6. ⟨10.1530/EJE-22-0171⟩

Article dans une revue hal-04014019v1
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PD-1 Blockade in Solid Tumors with Defects in Polymerase Epsilon

Benoit Rousseau , Ivan Bieche , Eric Pasmant , Nadim Hamzaoui , Nicolas Leulliot et al.

Cancer Discovery, 2022, 12 (6), pp.1435-1448. ⟨10.1158/2159-8290.CD-21-0521⟩

Article dans une revue hal-04210180v1
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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.

Claire Forde , Emma Burkitt-Wright , Peter D Turnpenny , Eric Haan , John Ealing et al.

European Journal of Human Genetics, 2022, 30 (3), ⟨10.1038/s41431-021-01015-4⟩

Article dans une revue hal-04255330v1
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KDM1A inactivation causes hereditary food-dependent Cushing syndrome

Anna Vaczlavik , Lucas Bouys , Florian Violon , Gaetan Giannone , Anne Jouinot et al.

Genetics in Medicine, 2022, 24 (2), pp.374-383. ⟨10.1016/j.gim.2021.09.018⟩

Article dans une revue hal-03604178v1
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RAS activation induces synthetic lethality of MEK inhibition with mitochondrial oxidative metabolism in acute myeloid leukemia

Justine Decroocq , Rudy Birsen , Camille Montersino , Prasad Chaskar , Jordi Mano et al.

Leukemia, 2022, 36 (5), pp.1237-1252. ⟨10.1038/s41375-022-01541-0⟩

Article dans une revue hal-04085323v1

Transcriptome in paraffin samples for the diagnosis and prognosis of adrenocortical carcinoma

Anne Jouinot , Juliane Lippert , Mathilde Sibony , Florian Violon , Lindsay Jeanpierre et al.

European Journal of Endocrinology, 2022, 186 (6), pp.607-617. ⟨10.1530/EJE-21-1228⟩

Article dans une revue inserm-04432877v1
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Identification of three clinical neurofibromatosis 1 subtypes: Latent class analysis of a series of 1351 patients

Christina Bergqvist , Laura Fertitta , Khaled Ezzedine , Arnaud Jannic , Ouidad Zehou et al.

Journal of the European Academy of Dermatology and Venereology, 2022, 36 (5), pp.739-743. ⟨10.1111/jdv.17974⟩

Article dans une revue hal-03777704v1
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Cancérogenèse et variants faux sens pathogènes du domaine exonucléasique des ADN polymérases ε et δ

Albain Chansavang , Benoit Rousseau , Nicolas Leulliot , Julien Masliah-Planchon , Ivan Bièche et al.

Médecine/Sciences, 2022, 38 (10), pp.763-765. ⟨10.1051/medsci/2022118⟩

Article dans une revue hal-03811508v1
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Severe phenotype in patients with large deletions of NF1

Laurence Pacot , Dominique Vidaud , Audrey Sabbagh , Ingrid Laurendeau , Audrey Briand-Suleau et al.

Cancers, 2021, 13 (12), pp.2963. ⟨10.3390/cancers13122963⟩

Article dans une revue hal-03403724v1
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Malignant histiocytosis with a Langerhans cell subtype: A report on the diagnostic and therapeutic challenge

Amel Kime , Claire Bréal , Anne-Ségolène Cottereau , Chloe Friedrich , Justine Decroocq et al.

Blood Cells, Molecules and Diseases, 2021, 92, pp.102623. ⟨10.1016/j.bcmd.2021.102623⟩

Article dans une revue inserm-03549848v1

Noninvasive Prenatal Diagnosis of a Paternally Inherited <i>MEN1</i> Pathogenic Splicing Variant

Thomas Huby , Edouard Le Guillou , Cyril Burin Des Roziers , Laurence Pacot , Audrey Briand-Suleau et al.

Journal of Clinical Endocrinology and Metabolism, 2021, 107 (4), pp.e1367 - e1373. ⟨10.1210/clinem/dgab894⟩

Article dans une revue hal-05409856v1
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COVID-19: Discovery, diagnostics and drug development

Tarik Asselah , David Durantel , Eric Pasmant , George Lau , Raymond Schinazi

Journal of Hepatology, 2021, 74 (1), pp.168-184. ⟨10.1016/j.jhep.2020.09.031⟩

Article dans une revue inserm-04120635v1
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Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln

Marion Aubert-Mucca , Charlotte Dubucs , Marion Groussolles , Julie Vial , Edouard Le Guillou et al.

Bone Reports, 2021, 15, pp.101097. ⟨10.1016/j.bonr.2021.101097⟩

Article dans une revue hal-03700658v1
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UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population

Pauline Romanet , Amira Mohamed , Sophie Giraud , Marie-Françoise Odou , Marie-Odile North et al.

Journal of Clinical Endocrinology and Metabolism, 2019, 104 (3), pp.753-764. ⟨10.1210/jc.2018-01170⟩

Article dans une revue hal-01975538v1

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants

Pauline Romanet , Marie-Francoise Odou , Marie-Odile North , Alexandru Saveanu , Lucie Coppin et al.

Human Mutation, 2019, 40 (6), pp.661-674. ⟨10.1002/humu.23746⟩

Article dans une revue hal-02461447v1
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BAP1 complex promotes transcription by opposing PRC1-mediated H2A ubiquitylation

Antoine Campagne , Ming-Kang Lee , Dina Zielinski , Audrey A. Michaud , Stéphanie Le Corre et al.

Nature Communications, 2019, 10, pp.348. ⟨10.1038/s41467-018-08255-x⟩

Article dans une revue hal-02008379v1
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Proteome analysis of formalin‐fixed paraffin‐embedded colorectal adenomas reveals the heterogeneous nature of traditional serrated adenomas compared to other colorectal adenomas

Pierre Sohier , Romain Sanson , Marjorie Leduc , Anne Audebourg , Cedric Broussard et al.

Journal of Pathology, 2019, Online ahead of print. ⟨10.1002/path.5366⟩

Article dans une revue inserm-02372946v1
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One NF1 Mutation may Conceal Another

Laurence Pacot , Cyril Burin Des Roziers , Ingrid Laurendeau , Audrey Briand-Suleau , Audrey Coustier et al.

Genes, 2019, 10 (9), pp.633. ⟨10.3390/genes10090633⟩

Article dans une revue hal-02436873v1

EZH1/2 function mostly within canonical PRC2 and exhibit proliferation-dependent redundancy that shapes mutational signatures in cancer

Michel Wassef , Armelle Luscan , Setareh Aflaki , Dina Zielinski , Pascal Jansen et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (13), pp.6075-6080. ⟨10.1073/pnas.1814634116⟩

Article dans une revue hal-03951711v1

“MPNST Epigenetics”—Letter

Michel Wassef , Eric Pasmant , Raphaël Margueron

Molecular Cancer Research, 2019, 17 (10), pp.2139-2139. ⟨10.1158/1541-7786.MCR-19-0680⟩

Article dans une revue hal-03951802v1
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Phosphorylation of Merlin by Aurora A kinase appears necessary for mitotic progression

Vinay Mandati , Laurence Del Maestro , Florent Dingli , Berangère Lombard , Damarys Loew et al.

Journal of Biological Chemistry, 2019, 294 (35), pp.12992-13005. ⟨10.1074/jbc.RA118.006937⟩

Article dans une revue hal-02266353v1
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SUMMIT

Armelle Luscan , Éric Pasmant

Médecine/Sciences, 2018, 34 (11), pp.910-913. ⟨10.1051/medsci/2018232⟩

Article dans une revue hal-02970154v1

Abstract 4609: High-grade TP53-mutated endometrial carcinomas have decreased NRF2 antioxidant activity

Guillaume Beinse , Pierre-Alexandre Just , Bastien Rance , Brigitte Izac , Franck Letourneur et al.

Cancer Research, 2018, 78 (13_Supplement), pp.4609-4609. ⟨10.1158/1538-7445.AM2018-4609⟩

Article dans une revue hal-03865719v1

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

Camille Louvrier , Eric Pasmant , Audrey Briand-Suleau , Joëlle Cohen , Patrick Nitschké et al.

Neuro-Oncology, 2018, 20 (7), pp.917-929. ⟨10.1093/neuonc/noy009⟩

Article dans une revue hal-03905479v1
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The Involvement of Aryl hydrocarbon receptor in myelination and in human nerve sheath tumorigenesis

Ghjuvan Ghjacumu Shackleford , Nirmal Kumar Sampathkumar , Mehdi Hichor , Laure Weill , Delphine Meffre et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018, 115 (6), pp.E1319-E1328. ⟨10.1073/pnas.1715999115⟩

Article dans une revue hal-02110942v1

Detection and monitoring of circulating tumor DNA in adrenocortical carcinoma

Simon Garinet , Juliette Nectoux , Mario Neou , Eric Pasmant , Anne Jouinot et al.

Endocrine-Related Cancer, 2018, 25 (3), pp.L13-L17. ⟨10.1530/ERC-17-0467⟩

Article dans une revue hal-02884386v1

Humanized Mouse Model to Study Type 1 Diabetes

Sandrine Luce , Sophie Guinoiseau , Alexis Gadault , Franck Letourneur , Bertrand Blondeau et al.

Diabetes, 2018, 67 (9), pp.1816-1829. ⟨10.2337/db18-0202⟩

Article dans une revue hal-03972793v1
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Shifting the Balance of Activating and Inhibitory Natural Killer Receptor Ligands on BRAF V600E Melanoma Lines with Vemurafenib

Alexandra Frazao , Marina Colombo , Emmanuelle Fourmentraux-Neves , Meriem Messaoudene , Sylvie Rusakiewicz et al.

Cancer Immunology Research, 2017, 5 (7), pp.582 - 593. ⟨10.1158/2326-6066.CIR-16-0380⟩

Article dans une revue inserm-01637027v1

Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing

Simon Garinet , Mario Néou , Bruno de la Villéon , Simon Faillot , Julien Sakat et al.

Journal of Molecular Diagnostics, 2017, 19 (5), pp.776 - 787. ⟨10.1016/j.jmoldx.2017.06.005⟩

Article dans une revue hal-05409775v1

Prognostic value of a newly identified MALAT1 alternatively spliced transcript in breast cancer

Didier Meseure , Sophie Vacher , François Lallemand , Kinan Drak Alsibai , Rana Hatem et al.

British Journal of Cancer, 2016, 114 (12), pp.1395-1404. ⟨10.1038/bjc.2016.123⟩

Article dans une revue hal-02349825v1
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Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells

Jennifer Varin , Laury Poulain , Mikael Hivelin , Patrick Nusbaum , Arnaud Hubas et al.

Oncotarget, 2016, 7 (24), pp.35753-35767. ⟨10.18632/oncotarget.7099⟩

Article dans une revue inserm-01399312v1
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Impaired PRC2 activity promotes transcriptional instability and favors breast tumorigenesis

Michel Adam Wassef , Verónica Rodilla , Aurélie Teissandier , Bruno Zeitouni , Nadège Gruel et al.

Genes and Development, 2015, 29 (24), pp.2547-2562. ⟨10.1101/gad.269522.115⟩

Article dans une revue hal-02559123v1
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Chaperoning 5S RNA assembly

Clément Madru , Simon Lebaron , Magali Blaud , Lila Delbos , Juliana Pipoli da Fonseca et al.

Genes and Development, 2015, 29 (13), pp.1432-1446. ⟨10.1101/gad.260349.115⟩

Article dans une revue hal-02884389v1

Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

J. Thevenon , A. Bourredjem , L. Faivre , C Cardot-Bauters , A. Calender et al.

European Journal of Endocrinology, 2015, 173 (6), pp.819-826. ⟨10.1530/EJE-15-0691⟩

Article dans une revue hal-02546020v1

Mutations in SETD2 cause a novel overgrowth condition

Armelle Luscan , Ingrid Laurendeau , Valérie Malan , Christine Francannet , Sylvie Odent et al.

Journal of Medical Genetics, 2014, 51 (8), pp.512--517. ⟨10.1136/jmedgenet-2014-102402⟩

Article dans une revue hal-01064581v1
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MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis

Julien Masliah-Planchon , Eric Pasmant , Armelle Luscan , Ingrid Laurendeau , Nicolas Ortonne et al.

BMC Genomics, 2013, 14 (1), pp.473

Article dans une revue inserm-00845367v1
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First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

Eric Pasmant , Philippe Goussard , Laetitia Baranes , Ingrid Laurendeau , Samuel Quentin et al.

European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2011.186⟩

Article dans une revue hal-00685384v1
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NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

Eric Pasmant , Audrey Sabbagh , Gill Spurlock , Ingrid Laurendeau , Elisa Grillo et al.

Human Mutation, 2010, 31 (6), pp.E1506-E1518. ⟨10.1002/humu.21271⟩

Article dans une revue istex hal-00552390v1
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SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

Eric Pasmant , Audrey Sabbagh , Nadine Hanna , Julien Masliah-Planchon , Emilie Jolly et al.

Journal of Medical Genetics, 2009, 46 (7), pp.425. ⟨10.1136/jmg.2008.065243⟩

Article dans une revue hal-00552683v1