医学
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10 篇有效样本 · 按发表日期由新到旧排列
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Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting
作者Avani Varde; Terri McVeigh; Vicky Cuthill; Angela F. Brady; Bianca DeSouza; Andrew Latchford; Kevin J. Monahan
作者单位1. The Centre for Familial Intestinal Cancer, St Mark’s The National Bowel Hospital, London, UK; 2. Surgery and Cancer, Imperial College, London, UK; 3. The Royal Marsden Hospital, London, UK; 4. North West Thames Regional Genetics Service, London, UK
Healthcare provider-mediated cascade testing of Lynch syndrome to at-risk family members: an interview study
作者Serene Ong; Zi Yang Chua; Jeanette Yuen; Jianbang Chiang; Zhang Zewen; Joanne Ngeow; Tamra Lysaght
作者单位1. Centre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore; 2. Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore; 3. Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore; 4. Sydney Health Ethics, University of Sydney, Sydney, Australia
A novel likely pathogenic germline variant in CDKN1B in a patient with MEN4 and medullary thyroid cancer
作者Fernández Mercè; Queralt Asla; Francisco J. Illana; Fusté Victòria; Hernández-Losa Javier; Sesé Marta; Carmela Iglesias; Susan M. Webb; Anna Aulinas
作者单位1. Department of Endocrinology and Nutrition, Institut de Recerca Sant Pau (IR SANTPAU), Endo-ERN. Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; 2. Department of Endocrinology and Nutrition, Centre d’Atenció Integral Dos de Maig, Consorci Sanitari Integral, Barcelona, Spain; 3. Faculty of Medicine, University of Vic-Central University of Catalonia, Vic, Spain; 4. Department of Biochemistry, Hospital de la Santa Creu i Sant Pau, IIB Sant Pau, Barcelona, Spain; 5. Department of Pathological Anatomy, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; 6. Department of Pathological Anatomy, Vall d’Hebrón Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona, Spain; 7. Department of Medicine, Universitat Autònoma de Barcelona, Bellaterra, Spain; 8. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER, Instituto de Salud Carlos III (ISCIII), Madrid, Spain
CHEK2 -related breast cancer: real-world challenges
作者Luiza N. Weis; Brittany L. Bychkovsky; Adela Rodríguez Hernandez; Romualdo Barroso-Sousa; Renata L. Sandoval
作者单位1. Dasa Oncology, Hospital Brasília, Brasília, Brazil; 2. Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, USA; 3. Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, USA; 4. Breast Oncology Program, Dana-Farber Brigham Cancer Center, Boston, USA; 5. Harvard Medical School, Boston, USA; 6. Translational Genomics and Targeted Therapies in Solid Tumors Group, August Pi I Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain; 7. Department of Medicine, University of Barcelona, Barcelona, Spain; 8. Hospital Sírio-Libanês, Brasília, Brazil
New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients
作者Julie Amiot; Lara Gubeljak; Agathe Fontaine; Denis Smith; Isabelle Mortemousque; Nathalie Parodi; Jacques Mauillon; Edwige Kasper; Stéphanie Baert-Desurmont; Julie Tinat; Claude Houdayer
作者单位1. Univ Rouen Normandie, Inserm U1245, Normandie Univ, Rouen, France; 2. Department of Genetics, Univ Rouen Normandie, Normandie Univ, CHU Rouen, FHU-G4 Génomique, ERN GENTURIS, Rouen, France; 3. Department of Genetics, Rouen Normandy University Hospital, Inserm U1245 Cancer and Brain Genomics, FHU- G4 Génomique UFR Santé, Rouen Cedex, France; 4. Department of Medical Genetics, CHU Bordeaux, Bordeaux, France; 5. Department of Digestive Oncology, CHU Bordeaux, Bordeaux, France; 6. Department of Medical Genetics, CHU Tours, Tours, France
Identification of a germline deep intronic PTEN -deletion leading to exonization through whole genome and targeted RNA sequencing
作者Morgane Boedec; Camille Aucouturier; Mathias Cavaillé; Raphaël Leman; Laurent Castéra; Hélène Delhomelle; Nancy Uhrhammer; Virginie Bernard; Sophie Giraud; Eulalie Lasseaux; Natalie Jones; Marie Bidart; Nadia Boutry-Kryza; Catherine Noguès; Chrystelle Colas; Christine Maugard; Sophie Krieger; Ahmed Bouras
作者单位1. Service de Génétique Oncologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; 2. Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, Caen, France; 3. FHU-G4 génomique, Inserm U1245, Normandie Univ, UNIROUEN, Rouen, France; 4. Department of Oncogenetics, Jean Perrin Center, Clermont-Ferrand, France; 5. GCS AURAGEN, Lyon, France; 6. Faculté de Médecine, Département de Pédiatrie, Université de Laval, Québec, Canada; 7. Department of genetics, Curie Institute, Paris, France; 8. Paris Sciences & Lettres Research University, Paris, France; 9. Cancer Genetics Department, Institut Bergonié, Bordeaux, France; 10. Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences INSERM U1209, CNRS UMR5309, Grenoble, France; 11. Service de génétique, Hospices Civils de Lyon, Bron, France; 12. Cancer Risk Management Department, Clinical Oncogenetics, Institut Paoli-Calmettes, Marseille, France; 13. Aix-Marseille Université, IRD, SESSTIM, Inserm, Marseille, France; 14. Normandie Univ, UNICAEN, Caen, France; 15. Laboratory of Constitutional Genetics for Frequent Cancer HCL-CLB, Centre Léon Bérard, Lyon, France; 16. Inserm U1052, Lyon Cancer Research Center, Lyon, France
Myelodysplastic syndrome with dual germline RUNX1 and DDX41 variants: a rare genetic predisposition case
作者Virginia Bove; Maria Noel Spangenberg; Carolina Ottati; Lucia Vázquez; Ana I. Catalán; Sofía Grille
作者单位1. Cooperativa Medica de Canelones, Montevideo, Uruguay; 2. Laboratorio de Citometría y Biología Molecular, Departamento Básico de Medicina, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay; 3. Unidad Académica de Hematología, Hospital de Clínicas, Facultad de Medicina. Universidad de la Republica, Montevideo, Uruguay; 4. Montevideo, Uruguay
Thirty-year compliance with a surveillance program for patients with familial adenomatous polyposis
作者Boris Cleret de Langavant; Jéremie H. Lefèvre; Julie Metras; Antoine Dardenne; Lauren V. O’Connell; Maxime Collard; Yann Parc
作者单位1. Department of Digestive Surgery, Sorbonne University, Hôpital Saint Antoine, APHP, Paris, France; 2. Pred If Centre, Oncogenetic Departement, Sorbonne University, Hôpital Saint Antoine, APHP, Paris, France; 3. Centre for Colorectal Disease, St. Vincent’s University Hospital, Elm Park, Dublin 4, Ireland; 4. Department of Digestive Surgery, Hôpital Saint-Antoine, APHP, Paris, France
Case review of perivascular epithelioid cell tumor occurring in patients with Li-Fraumeni syndrome
作者Natsuno Abe; Fumito Yamazaki; Hanako Tsujikawa; Ryosuke Kasuga; Nobuhito Taniki; Hiroyuki Shimada
作者单位1. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan; 2. Department of Diagnostic Pathology, National Hospital Organization Saitama Hospital, Saitama, Japan; 3. Department of Pathology, Keio University School of Medicine, Tokyo, Japan; 4. Department of Gastroenterology and Hepatology, Keio University School of Medicine, Tokyo, Japan
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