医学
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Association analysis of germline variants in GEN1 with a susceptibility to prostate cancer in Polish men
作者Katarzyna Gliniewicz; Klaudia Stempa; Dominika Wokołorczyk; Wojciech Kluźniak; Milena Kiljańczyk; Helena Rudnicka; Tomasz Huzarski; Jacek Gronwald; Jan Uciński; Tadeusz Dębniak; Marta Grabarczyk; Anna Jakubowska; Marek Szwiec; Marcin Lener; Jan Lubiński; Steven A. Narod; Mohammad R. Akbari; Cezary Cybulski
作者单位1. International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, Szczecin, Poland; 2. Department of Clinical Genetics and Pathology, University of Zielona Góra, Zielona Góra, Poland; 3. Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, Szczecin, Poland; 4. Clinics of Oncology, University Hospital in Zielona Góra, Zielona Góra, Poland; 5. Women’s College Hospital, Women’s College Research Institute, University of Toronto, Toronto, Canada; 6. Dalla Lana School of Public Health, University of Toronto, Toronto, Canada
Are current Polish guidelines for prophylactic mastectomy sufficient?
作者Adam Stachowski; Cezary Cybulski; Jacek Gronwald; Tomasz Huzarski; Tadeusz Dębniak; Tomasz Byrski; Steven Narod; Rodney Scott; Jan Lubiński
作者单位1. Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland; 2. Oncology and Chemotherapy Clinic, University Clinical Hospital no. 2 of the Pomeranian Medical University in Szczecin, Szczecin, Poland; 3. Women’s College Research Institute, Women’s College Hospital, University of Toronto, Toronto, Canada; 4. Centre for Cancer Detection and Therapy, Hunter Medical Research Institute, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, Australia; 5. Division of Molecular Medicine, Pathology North, John Hunter Hospital, New Lambton, Australia
Renal cell carcinoma risk among individuals heterozygous for fumarate hydratase variants: further insights into genotype-phenotype correlations
作者Trevor L. Hoffman; Sony Wirio; Vivek Sethumadhavan
作者单位1. Department of Genetics, Southern California Kaiser Permanente Medical Group, Pasadena, USA; 2. Bernard J. Tyson School of Medicine, Kaiser Permanente, Pasadena, USA; 3. Department of Pathology, Southern California Kaiser Permanente Medical Group, Pasadena, USA
Breast cancer specialists’ experiences and attitudes towards mainstream genetic testing for patients with breast cancer
作者Kirsten Allan; Linda Cicciarelli; Catherine Beard; Geoffrey J. Lindeman; G. Bruce Mann; Paul A. James; Laura E. Forrest
作者单位1. Department of Paediatrics, The University of Melbourne, Parkville, Australia; 2. Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Australia; 3. Department of Medicine, The University of Melbourne, Parkville, Australia; 4. The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; 5. Department of Surgery, The University of Melbourne, Parkville, Australia; 6. Sir Peter MacCallum, Department of Oncology, The University of Melbourne, Parkville, Australia
Monitoring and treatment patterns of von Hippel-Lindau disease-associated central nervous system hemangioblastomas
作者Eric Jonasch; Yan Song; Jonathan Freimark; Manasi Mohan; James Signorovitch; Murali Sundaram
作者单位1. The University of Texas MD Anderson Cancer Center, Houston, USA; 2. Analysis Group, Inc., Boston, USA; 3. Merck & Co., Inc., Rahway, USA
Impact of germline MMR gene variants on immune checkpoint inhibitors response in patients with MSI-H/dMMR digestive cancers: a retrospective cohort analysis
作者Antoine Dardenne; Camille Loisel; Anna Pellat; Alexandre Perrier; Julie Metras; Thomas Samaille; Yann Parc; Julie Leclerc; Romain Cohen; Thierry André
作者单位1. Department of Medical Oncology, Saint-Antoine Hospital, AP-HP , Sorbonne University, Paris, France; 2. Department of Genetics, AP-HP, Pitié-Salpêtrière University Hospital, Sorbonne University, Paris, France; 3. Department of Digestive Surgery, AP-HP, Saint-Antoine Hospital, Sorbonne University, Paris, France; 4. Digestive Oncology Department, Gastroenterology, Digestive Endoscopy, Cochin Hospital, AP-HP Centre, Paris, France; 5. Faculty of Médecine, Paris Cité University, Paris, France; 6. Paris Cité University and Sorbonne Paris Nord University, INSERM, INRAe, Center for Research in Epidemiology and Statistics (CRESS), Hôtel Dieu Hospital, Paris, France; 7. Lille University, CNRS, INSERM, CHU Lille, UMR9020-U1277 - CANTHER - Cancer Heterogeneity Plasticity and Resistance to Therapies, Lille, France; 8. Molecular Oncogenetics Unit, Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France; 9. Unité Mixte de Recherche Scientifique 938 and SIRIC CURAMUS, Centre de Recherche Saint-Antoine Hospital, Equipe Instabilité des Microsatellites et Cancer, Equipe Labellisée par la Ligue Nationale Contre le Cancer, Inserm, Paris, France
Importance of genetic testing in childhood cancer survivors for hereditary cancer predisposition syndromes
作者Anja Urbas; Polona Ušaj; Boštjan Šeruga; Mateja Krajc; Simona Hotujec; Vida Stegel; Lorna Zadravec Zaletel
作者单位1. Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia; 2. Division of Medical Oncology, Institute of Oncology Ljubljana, Ljubljana, Slovenia; 3. Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, Slovenia; 4. Department of Molecular Diagnostics, Institute of Oncology Ljubljana, Ljubljana, Slovenia; 5. Biotechnical Faculty, University of Ljubljana, Ljubljana, Slovenia; 6. Division of Radiotherapy, Institute of Oncology Ljubljana, Ljubljana, Slovenia
Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature
作者Tanya M. Dwarte; Rozanna Alli; Shweta Srinivasa; Fallon Noon; Sumudu Perera Kimmantudawage; Lisa Gordon; Victoria Beshay; Anthony M. Joshua; Raquel Ruiz Araujo; Chris Jalilian; David M. Thomas; Miriam J. Smith; Ingrid Winship; Mandy L. Ballinger; Minmin Li; Katherine M. Tucker; Eliza K. Courtney
作者单位1. Hereditary Cancer Centre, Prince of Wales Hospital, Randwick, Australia; 2. Genetic Health Queensland, Brisbane, Australia; 3. Family Cancer Service, Westmead Hospital, Westmead, Australia; 4. Genomic Medicine, Royal Melbourne Hospital, Parkville, Australia; 5. Molecular Pathology, Peter MacCallum Cancer Centre, Melbourne, Australia; 6. The Kinghorn Cancer Centre, St Vincent’s Hospital, Garvan Institute of Medical Research, Darlinghurst, Australia; 7. School of Clinical Medicine, UNSW Medicine and Health, UNSW Sydney, Sydney, Australia; 8. Department of Dermatology, Westmead Hospital, Westmead, Australia; 9. Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; 10. Skin Health Institute, Melbourne, Australia; 11. Monash Health, Melbourne, Australia; 12. Centre for Molecular Oncology, UNSW Sydney, Sydney, Australia; 13. Omico, Sydney, Australia; 14. Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK; 15. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Central Manchester University Hospitals, NSH Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK; 16. Department of Medicine, University of Melbourne, Parkville, Australia; 17. Children’s Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Sydney, Australia; 18. Kids Cancer Centre, Sydney Children’s Hospital, Randwick, Australia
Genomic profiling in Bulgarian women with ovarian cancer: a dual-sample NGS approach
作者Zornitsa Kamburova; Savelina Popovska; Chavdar Tsvetkov
作者单位1. Department of Medical Genetics, Faculty of Pharmacy, Medical University, Pleven, Bulgaria; 2. Centre of Competence in Personalized Medicine, 3D and Telemedicine, Robotic Assisted and Minimally Invasive Surgery – “Leonardo da Vinci”, Pleven, Bulgaria; 3. Department of General and Clinical Pathology, Faculty of Medicine, Medical University, Pleven, Bulgaria; 4. Department of Midwifery Care, Faculty of Health Care, Medical University, Pleven, Bulgaria
A retrospective analysis of risk-reducing salpingo-oophorectomy performed in women diagnosed with hereditary breast and ovarian cancer at our institution
作者Yusaku Shimizu; Miho Kitai; Masashi Akada; Michihide Maeda; Eri Yamabe; Reisa Kakubari; Tsuyoshi Hisa; Shoji Kamiura
作者单位1. Department of Gynecology, Osaka International Cancer Institute, Osaka, Japan; 2. Department of Obstetrics and Gynecology, Ashiya Municipal Hospital, Hyogo, Japan
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