Breast cancer in six families from Tolima and Huila: BRCA1 3450del4 mutation

Autor: Benavides J; Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Universidad del Tolima, Ibagué, Colombia. biomedica@ins.gov.co., Suárez J; Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Universidad del Tolima, Ibagué, Colombia. biomedica@ins.gov.co., Estrada A; Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Universidad del Tolima, Ibagué, Colombia. biomedica@ins.gov.co., Bohórquez M; Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Universidad del Tolima, Ibagué, Colombia. mebohorquez@ut.edu.co., Ramírez C; Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Universidad del Tolima, Ibagué, Colombia. biomedica@ins.gov.co., Olaya J; Unidad de Oncología, Hospital Universitario Hernando Moncaleano Perdomo, Neiva, Colombia. biomedica@ins.gov.co., Sánchez Y; Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Universidad del Tolima, Ibagué, Colombia; Programa de Medicina, Universidad del Tolima, Ibagué, Colombia. biomedica@ins.gov.co., Mateus G; Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Universidad del Tolima, Ibagué, Colombia; Unidad de Oncología, Hospital Federico Lleras Acosta, Ibagué, Colombia. biomedica@ins.gov.co., Carvajal L; Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Universidad del Tolima, Ibagué, Colombia; Genome Center and Department of Biochemistry and Molecular Medicine, University of California, Davis, USA; Unidad de Oncología, Fundación Genética y Genómica, Medellín, Colombia. biomedica@ins.gov.co., Echeverry MM; Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Universidad del Tolima, Ibagué, Colombia. biomedica@ins.gov.co.

Publikováno v: Biomedica : revista del Instituto Nacional de Salud [Biomedica] 2020 Mar 01; Vol. 40 (1), pp. 185-194. Date of Electronic Publication: 2020 Mar 01.

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.

Autor: Painter JN; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., O'Mara TA; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Batra J; Australian Prostate Cancer Research Centre-Qld, Institute of Health and Biomedical Innovation, and School of Biomedical Science and., Cheng T; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Lose FA; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Dennis J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care and., Michailidou K; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care and., Tyrer JP; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Ahmed S; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Ferguson K; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Healey CS; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Kaufmann S; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Hillman KM; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Walpole C; Australian Prostate Cancer Research Centre-Qld, Institute of Health and Biomedical Innovation, and School of Biomedical Science and., Moya L; Australian Prostate Cancer Research Centre-Qld, Institute of Health and Biomedical Innovation, and School of Biomedical Science and., Pollock P; Institute of Health and Biomedical Innovation and School of Biomedical Science, Queensland University of Technology, Brisbane, QLD, Australia., Jones A; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Howarth K; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Martin L; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Gorman M; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Hodgson S; Department of Clinical Genetics, St George's Hospital Medical School, London, UK., De Polanco MM; Grupo de Investigación Citogenética, Filogenia y Evolución de Poblaciones, Universidad del Tolima, Ibagué, Tolima, Colombia., Sans M; Department of Biological Anthropology, College of Humanities and Educational Sciences, University of the Republic, Magallanes, Montevideo, Uruguay., Carracedo A; Grupo de Medicina Xenómica, Fundación Galega de Medicina Xenómica (SERGAS) and CIBERER, Universidade de Santiago de Compostela, Santiago de Compostela, Spain, Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, KSA., Castellvi-Bel S; Genetic Predisposition to Colorectal Cancer Group, Gastrointestinal & Pancreatic Oncology Team, IDIBAPS/CIBERehd/Hospital Clínic, Centre Esther Koplowitz (CEK), Barcelona, Spain., Rojas-Martinez A; Universidad Autónoma de Nuevo León, Pedro de Alba s/n, San Nicolás de Los Garza, Nuevo León, Mexico., Santos E; Hospital A.C. Camargo, São Paulo, Brazil., Teixeira MR; Department of Genetics, Portuguese Oncology Institute, Porto, Portugal, Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal., Carvajal-Carmona L; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK, Grupo de Investigación Citogenética, Filogenia y Evolución de Poblaciones, Universidad del Tolima, Ibagué, Tolima, Colombia, Genome Center and Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA., Shu XO; Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA., Long J; Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA., Zheng W; Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA., Xiang YB; Department of Epidemiology, Shanghai Cancer Institute, Shanghai, China., Montgomery GW; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Webb PM; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Scott RJ; Hunter Medical Research Institute and, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, NSW, Australia, Centre for Information Based Medicine and School of Biomedical Science and Pharmacy., McEvoy M; Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health., Attia J; Hunter Medical Research Institute and, Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health., Holliday E; Hunter Medical Research Institute and, Centre for Information Based Medicine and School of Medicine and Public Health., Martin NG; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Nyholt DR; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Henders AK; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Fasching PA; Division of Hematology/Oncology, Department of Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, USA, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany., Hein A; University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany., Beckmann MW; University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany., Renner SP; University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany., Dörk T; Gynaecology Research Unit and., Hillemanns P; Clinics of Gynaecology and Obstetrics, Hannover Medical School, Hannover, Germany., Dürst M; Dept. of Gynaecology, Friedrich Schiller University Jena, Jena, Germany., Runnebaum I; Dept. of Gynaecology, Friedrich Schiller University Jena, Jena, Germany., Lambrechts D; Vesalius Research Center, VIB, Leuven, Belgium, Department of Oncology, Laboratory for Translational Genetics., Coenegrachts L; Division of Gynaecological Oncology, Department of Oncology, University Hospital Leuven, KU Leuven, Belgium., Schrauwen S; Division of Gynaecological Oncology, Department of Oncology, University Hospital Leuven, KU Leuven, Belgium., Amant F; Division of Gynaecological Oncology, Department of Oncology, University Hospital Leuven, KU Leuven, Belgium., Winterhoff B; Division of Gynecologic Oncology, Department of Obstetrics and Gynecology., Dowdy SC; Division of Gynecologic Oncology, Department of Obstetrics and Gynecology., Goode EL; Division of Epidemiology, Department of Health Science Research and., Teoman A; Division of Gynecologic Oncology, Department of Obstetrics and Gynecology., Salvesen HB; Department of Clinical Science, Centre for Cancerbiomarkers, The University of Bergen, Norway, Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway., Trovik J; Department of Clinical Science, Centre for Cancerbiomarkers, The University of Bergen, Norway, Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway., Njolstad TS; Department of Clinical Science, Centre for Cancerbiomarkers, The University of Bergen, Norway, Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway., Werner HM; Department of Clinical Science, Centre for Cancerbiomarkers, The University of Bergen, Norway, Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway., Ashton K; Hunter Area Pathology Service, John Hunter Hospital, Newcastle, NSW, Australia, Faculty of Health, Centre for Information Based Medicine and the Discipline of Medical Genetics, School of Biomedical Sciences and Pharmacy and., Proietto T; Faculty of Health, School of Medicine and Public Health, University of Newcastle, NSW, Australia., Otton G; Faculty of Health, School of Medicine and Public Health, University of Newcastle, NSW, Australia., Tzortzatos G; Department of Women's and Children's Health., Mints M; Department of Women's and Children's Health., Tham E; Department of Molecular Medicine and Surgery and., Hall P; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Czene K; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Liu J; Human Genetics, Genome Institute of Singapore, Singapore., Li J; Human Genetics, Genome Institute of Singapore, Singapore., Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health and., Southey MC; Department of Pathology, Genetic Epidemiology Laboratory, The University of Melbourne, Melbourne, VIC, Australia., Ekici AB; Institute of Human Genetics, University Hospital, Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany., Ruebner M; University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany., Johnson N; Breakthrough Breast Cancer Research Centre., Peto J; London School of Hygiene and Tropical Medicine, London, UK., Burwinkel B; Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, Molecular Epidemiology, C080., Marme F; Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany., Brenner H; Division of Clinical Epidemiology and Aging Research, German Cancer Consortium (DKTK), Heidelberg, Germany., Dieffenbach AK; Division of Clinical Epidemiology and Aging Research, German Cancer Consortium (DKTK), Heidelberg, Germany., Meindl A; Division of Tumor Genetics, Department of Obstetrics and Gynecology, Technical University of Munich, Munich, Germany., Brauch H; Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology Stuttgart, University of Tuebingen, Germany., Lindblom A; Department of Molecular Medicine and Surgery and., Depreeuw J; Vesalius Research Center, VIB, Leuven, Belgium., Moisse M; Vesalius Research Center, VIB, Leuven, Belgium., Chang-Claude J; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany., Rudolph A; Department of Cancer Epidemiology/Clinical Cancer Registry and Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg, Germany., Couch FJ; Departments of Laboratory Medicine and Pathology, and Health Science Research, Mayo Clinic, Rochester, MN, USA., Olson JE; Division of Epidemiology, Department of Health Science Research and., Giles GG; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health and Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, VIC, Australia, Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, VIC, Australia., Bruinsma F; Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, VIC, Australia., Cunningham JM; Departments of Laboratory Medicine and Pathology, and Health Science Research, Mayo Clinic, Rochester, MN, USA., Fridley BL; Department of Biostatistics, University of Kansas Medical Center, Kansas City, KS, USA., Børresen-Dale AL; Department of Genetics, Institute for Cancer Research, The Norwegian Radium Hospital, Oslo, Norway, Faculty of Medicine, The K.G. Jebsen Center for Breast Cancer Research, Institute for Clinical Medicine, University of Oslo, Oslo, Norway., Kristensen VN; Department of Genetics, Institute for Cancer Research, The Norwegian Radium Hospital, Oslo, Norway, Faculty of Medicine, The K.G. Jebsen Center for Breast Cancer Research, Institute for Clinical Medicine, University of Oslo, Oslo, Norway, Division of Medicine, Department of Clinical Molecular Oncology, Akershus University Hospital, Ahus, Norway., Cox A; Department of Oncology, Sheffield Cancer Research Centre, University of Sheffield, Sheffield, UK., Swerdlow AJ; Division of Genetics and Epidemiology and, Division of Breast Cancer Research, Institute of Cancer Research, London, UK., Orr N; Division of Breast Cancer Research, Institute of Cancer Research, London, UK., Bolla MK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care and., Wang Q; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care and., Weber RP; Department of Community and Family Medicine, Duke University School of Medicine, Durham, NC, USA., Chen Z; Division of Population Sciences, Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA., Shah M; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., French JD; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Pharoah PD; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Dunning AM; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Tomlinson I; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care and Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Edwards SL; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Thompson DJ; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Spurdle AB; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia, amanda.spurdle@qimrberghofer.edu.au.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2015 Mar 01; Vol. 24 (5), pp. 1478-92. Date of Electronic Publication: 2014 Nov 06.

Novel MLH1 duplication identified in Colombian families with Lynch syndrome.

Autor: Alonso-Espinaco V; Gastroenterology Department, Institut de Malalties Digestives i Metabòliques, Hospital Clínic, CIBEREHD, IDIBAPS, University of Barcelona, Barcelona, Catalonia, Spain., Giráldez MD, Trujillo C, van der Klift H, Muñoz J, Balaguer F, Ocaña T, Madrigal I, Jones AM, Echeverry MM, Velez A, Tomlinson I, Milà M, Wijnen J, Carvajal-Carmona L, Castells A, Castellví-Bel S

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2011 Feb; Vol. 13 (2), pp. 155-60.

Two novel LKB1 mutations in Colombian Peutz-Jeghers syndrome patients.

Autor: Vélez A, Gaitan MH, Marquez JR, Castaño A, Restrepo JI, Jaramillo S, Gamarra A, Novelli M, Echeverry MM, Tomlinson I, Carvajal-Carmona LG

Publikováno v: Clinical genetics [Clin Genet] 2009 Mar; Vol. 75 (3), pp. 304-6.