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A multicenter blinded study evaluating EGFR and KRAS mutation testing methods in the clinical non-small cell lung cancer setting―IFCT/ERMETIC2 Project Part 1: Comparison of testing methods in 20 French molecular genetic National Cancer Institute platforms

Michèle Beau-Faller , Hélène Blons , Caroline Domerg , Dorota Gajda , Nicolas Richard , et al.
Journal of Molecular Diagnostics, 2014, 16 (1), pp.45--55. ⟨10.1016/j.jmoldx.2013.07.009⟩
Article dans une revue hal-01064291v1

Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method

Isabelle Tournier , Grégory Raux , Frédéric Di Fiore , Isabelle Maréchal , Carole Leclerc , et al.
Human Mutation, 2004, 23 (4), pp.379-384. ⟨10.1002/humu.20008⟩
Article dans une revue istex hal-02375848v1
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[OISO, automatic treatment of patients management in oncogenetics].

Celine Guien , Aurelie J Fabre , Arnaud Lagarde , David Salgado , Catherine Gensollen-Thiriez , et al.
Bulletin du Cancer, 2017, 104 (7-8), pp.602 - 607. ⟨10.1016/j.bulcan.2017.06.003⟩
Article dans une revue hal-01680483v1

3D nuclear topology dynamics of the 4q35 subtelomeric region linked to Facio-Scapulo-Humeral Dystrophy in skeletal muscle cells and hiPSC

Camille Dion , Marie-Cécile Gaillard , Arnaud Lagarde , Cherif Badja , Armand Tasmadjian , et al.
EMBO Conference - Chromatin and Epigenetics, May 2015, Heidelberg, Germany
Poster de conférence hal-01675614v1
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Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-years medical genetics service to French FAP patients

Arnaud Lagarde , Etienne Rouleau , Anthony Ferrari , Tetsuro Noguchi , Jinghua Qiu , et al.
Journal of Medical Genetics, 2010, 47 (10), pp.721. ⟨10.1136/jmg.2010.078964⟩
Article dans une revue hal-00557398v1

Cross-Validation Study for Epidermal Growth Factor Receptor and KRAS Mutation Detection in 74 Blinded Non-small Cell Lung Carcinoma Samples: A Total of 5550 Exons Sequenced by 15 Molecular French Laboratories (Evaluation of the EGFR Mutation Status for the Administration of EGFR-TKIs in Non-Small Lung Carcinoma [ERMETIC] Project-Part 1).

Michèle Beau-Faller , Armelle Degeorges , Estelle Rolland , Mounia Mounawar , Martine Antoine , et al.
Journal of Thoracic Oncology, 2011, 6, pp.1006-1015. ⟨10.1097/JTO.0b013e318211dcee⟩
Article dans une revue hal-00593534v1
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UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families

Philippe Grandval , Aurelie J Fabre , Pascaline Gaildrat , Stéphanie Baert-Desurmont , Marie-Pierre Buisine , et al.
Database - The journal of Biological Databases and Curation, 2013, 2013, pp.bat036 - bat036. ⟨10.1093/database/bat036⟩
Article dans une revue hal-01681805v1

Common BRCA2 Variants and Modification of Breast and Ovarian Cancer Risk in BRCA1 Mutation Carriers

D.J. Hughes , S.M. Ginolhac , I. Coupier , M. Corbex , B. Bressac-De-Paillerets , et al.
Cancer Epidemiology, Biomarkers and Prevention, 2005, 14, pp.265-267
Article dans une revue hal-00427856v1

Genomic variations integrated database for MUTYH -associated adenomatous polyposis

Philippe Grandval , Aurelie J Fabre , Pascaline Gaildrat , Stéphanie Baert-Desurmont , Martine Blayau , et al.
Journal of Medical Genetics, 2014, 52 (1), pp.25 - 27. ⟨10.1136/jmedgenet-2014-102752⟩
Article dans une revue hal-01681775v1

Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing

Jean-Marc Rey , Vincent Ducros , Pascal Pujol , Qing Wang , Marie-Pierre Buisine , et al.
Journal of Molecular Diagnostics, 2017, 19 (4), pp.589-601. ⟨10.1016/j.jmoldx.2017.04.005⟩
Article dans une revue hal-01741723v1

Identification and management of HNPCC syndrome (hereditary non polyposis colon cancer) hereditary predisposition to colorectal and endometrial adenocarcinomas

Sylviane Olschwang , C. Bonaiti-Pellie , J. Feingold , T. Frebourg , S. Grandjouan , et al.
Pathologie Biologie, 2006, 54, pp.215-229
Article dans une revue hal-00428016v1
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Genetic polymorphisms of MMP1, MMP3 and MMP7 gene promoter and risk of colorectal adenoma.

Astrid Lièvre , Jacqueline Milet , Jérôme Carayol , Delphine Le Corre , Chantal Milan , et al.
BMC Cancer, 2006, 6, pp.270. ⟨10.1186/1471-2407-6-270⟩
Article dans une revue inserm-00122090v1

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

Valérie Bonadona , Bernard Bonaïti , Sylviane Olschwang , Sophie Grandjouan , Laetitia Huiart , et al.
Journal of the American Medical Association, 2011, 305 (22), pp.2304-2310. ⟨10.1001/jama.2011.743⟩
Article dans une revue hal-00780536v1

The Balance Between Cytotoxic T-cell Lymphocytes and Immune Checkpoint Expression in the Prognosis of Colon Tumors

Laetitia Marisa , Magali Svrcek , Ada Collura , Etienne Becht , Pascale Cervera , et al.
JNCI: Journal of the National Cancer Institute, 2018, 110 (1), pp.68-77. ⟨10.1093/jnci/djx136⟩
Article dans une revue hal-01727817v1
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Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

Nehla Ghedira , Arnaud Lagarde , Karim Ben Ameur , Sahar Elouej , Rania Sakka , et al.
BMC Pediatrics, 2018, 18 (1), pp.286. ⟨10.1186/s12887-018-1259-8⟩
Article dans une revue pasteur-01882965v1
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Pan Aurora Kinase Inhibitor: A Promising Targeted-Therapy in Dedifferentiated Liposarcomas With Differential Efficiency Depending on Sarcoma Molecular Profile

Jean Camille Mattei , Corinne Bouvier , Doriane Barets , Nicolas Macagno , Mathieu Chocry , et al.
Cancers, 2020, 12 (3), pp.583. ⟨10.3390/cancers12030583⟩
Article dans une revue hal-03101390v1

HNPCC syndrome (Hereditary Non Polyposis Colon Cancer): identification and management

Sylviane Olschwang , C. Bonaïti , J. Feingold , T. Frébourg , S. Grandjouan , et al.
La Revue de Médecine Interne, 2005, 26, pp.106-118
Article dans une revue hal-00427857v1

Value of microsatellite instability typing in detecting hereditary non-polyposis colorectal cancer. A prospective multicentric study by the Association Aquitaine Gastro.

Yves Bécouarn , Anne Rullier , Philippe Gorry , Denis Smith , Richard Richard-Molard , et al.
Gastroentérologie Clinique et Biologique / Research and Clinics in Hepatology and Gastroenterology, 2005, 29 (6-7), pp.667-75
Article dans une revue hal-02196286v1
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Actionable Genes, Core Databases, and Locus-Specific Databases

Amélie Pinard , Morgane Miltgen , Arnaud Blanchard , Hélène Mathieu , Jean-Pierre Desvignes , et al.
Human Mutation, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩
Article dans une revue hal-01469071v1

Identification and management of HNPCC syndrome (hereditary non polyposis colon cancer) hereditary predisposition to colorectal and endometrial adenocarcinomas

Sylviane Olschwang , C. Bonaiti , J. Feingold , T. Frebourg , S. Grandjouan , et al.
Bulletin du Cancer, 2004, 91, pp.303-315
Article dans une revue hal-00427621v1
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Low compliance with colonoscopic screening in first-degree relatives of patients with large adenomas.

Vanessa Cottet , Alexandre Pariente , Bernard Nalet , Jacques Lafon , Chantal Milan , et al.
Alimentary Pharmacology and Therapeutics, 2006, 24 (1), pp.101-9. ⟨10.1111/j.1365-2036.2006.02966.x⟩
Article dans une revue inserm-00127338v1
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PIK3CA mutations predict recurrence in localized microsatellite stable colon cancer

Gilles Manceau , Laetitia Marisa , Valérie Boige , Alex Duval , Marie-Pierre Gaub , et al.
Cancer Medicine, 2015, 4 (3), pp.371-382. ⟨10.1002/cam4.370⟩
Article dans une revue hal-01213515v1
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Colonoscopic screening of first-degree relatives of patients with large adenomas: increased risk of colorectal tumors.

Vanessa Cottet , Alexandre Pariente , Bernard Nalet , Jacques Lafon , Chantal Milan , et al.
Gastroenterology, 2007, 133 (4), pp.1086-1092. ⟨10.1053/j.gastro.2007.07.023⟩
Article dans une revue inserm-00359900v1
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SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.

Guillaume Rousseau , Tetsuro Noguchi , Violaine Bourdon , Hagay Sobol , Sylviane Olschwang
BMC Neurology, 2011, 11 (1), pp.9. ⟨10.1186/1471-2377-11-9⟩
Article dans une revue inserm-00668426v1

Consideration surrounding incidental findings throughout multigene panelă testing in cancer genetics

Philippe Grandval , Aurelie J Fabre , Christophe Béroud , Sylviane Olschwang
Clinical Genetics, 2016, 89 (2), pp.267-268. ⟨10.1111/cge.12672⟩
Article dans une revue istex hal-01469711v1
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Karine Nguyen , Francesca Puppo , Stéphane Roche , Marie-Cécile Gaillard , Charlene Chaix , et al.
Human Mutation, 2017, 38 (10), pp.1432 - 1441. ⟨10.1002/humu.23304⟩
Article dans une revue hal-01614514v1

Predictive value of vascular endothelial growth factor polymorphisms for maintenance bevacizumab efficacy in metastatic colorectal cancer: an ancillary study of the PRODIGE 9 phase III trial

Bernadette de Rauglaudre , Camille Sibertin-Blanc , Aurelie J Fabre , Karine Le Malicot , Jaafar Bennouna , et al.
Therapeutic Advances in Medical Oncology, 2022, 14, pp.175883592211413. ⟨10.1177/17588359221141307⟩
Article dans une revue hal-04100128v1
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[Identification and management of HNPCC syndrome (hereditary non polyposis colon cancer), hereditary predisposition to colorectal and endometrial adenocarcinomas]

Sylviane Olschwang , Catherine Bonaïti-Pellié , Josué Feingold , Thierry Frébourg , Sophie Grandjouan , et al.
Pathologie Biologie, 2006, 54 (4), pp.215-29. ⟨10.1016/j.patbio.2006.02.008⟩
Article dans une revue inserm-00127776v1

The UMD-APC Database, a Model of Nation-Wide Knowledge Base: Update with Data from 3,581 Variations

Philippe Grandval , Martine Blayau , Marie-Pierre Buisine , Florence Coulet , Christine Maugard , et al.
Human Mutation, 2014, 35 (5), pp.532 - 536. ⟨10.1002/humu.22539⟩
Article dans une revue istex hal-01681788v1

BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations

S.M. Ginolhac , S. Gad , M. Corbex , B. Bressac-De-Paillerets , A. Chompret , et al.
Cancer Epidemiology, Biomarkers and Prevention, 2003, 2, pp.90-95
Article dans une revue hal-00427429v1