Paper Review Records
All Paper Review Records
10 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
Optimizing MRI sequences and apparent diffusion coefficient parameters for small pancreatic ductal adenocarcinoma detection
AuthorsNaoko Mori
Affiliations1. Department of Radiology, Akita University Graduate School of Medicine, Akita, Japan
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting
AuthorsAvani Varde; Terri McVeigh; Vicky Cuthill; Angela F. Brady; Bianca DeSouza; Andrew Latchford; Kevin J. Monahan
Affiliations1. 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
AuthorsSerene Ong; Zi Yang Chua; Jeanette Yuen; Jianbang Chiang; Zhang Zewen; Joanne Ngeow; Tamra Lysaght
Affiliations1. 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
AuthorsFernández Mercè; Queralt Asla; Francisco J. Illana; Fusté Victòria; Hernández-Losa Javier; Sesé Marta; Carmela Iglesias; Susan M. Webb; Anna Aulinas
Affiliations1. 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
AuthorsLuiza N. Weis; Brittany L. Bychkovsky; Adela Rodríguez Hernandez; Romualdo Barroso-Sousa; Renata L. Sandoval
Affiliations1. 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
AuthorsJulie Amiot; Lara Gubeljak; Agathe Fontaine; Denis Smith; Isabelle Mortemousque; Nathalie Parodi; Jacques Mauillon; Edwige Kasper; Stéphanie Baert-Desurmont; Julie Tinat; Claude Houdayer
Affiliations1. 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
AuthorsMorgane 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
Affiliations1. 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
AuthorsVirginia Bove; Maria Noel Spangenberg; Carolina Ottati; Lucia Vázquez; Ana I. Catalán; Sofía Grille
Affiliations1. 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
AuthorsBoris Cleret de Langavant; Jéremie H. Lefèvre; Julie Metras; Antoine Dardenne; Lauren V. O’Connell; Maxime Collard; Yann Parc
Affiliations1. 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
AuthorsNatsuno Abe; Fumito Yamazaki; Hanako Tsujikawa; Ryosuke Kasuga; Nobuhito Taniki; Hiroyuki Shimada
Affiliations1. 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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