Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).
Autorzy:
Hendricks LAJ; Department of Human Genetics, Radboudumc Expert Center for PHTS, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Radboud Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. Verbeek KCJ; Department of Human Genetics, Radboudumc Expert Center for PHTS, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Radboud Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboudumc Expert Center for PHTS, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. MensenkampAR; Department of Human Genetics, Radboudumc Expert Center for PHTS, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Radboud Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. Brems H; Department of Human Genetics, University of Leuven, 3000 Leuven, Belgium. de Putter R; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium. Anastasiadou VC; Karaiskakio Foundation, Nicosia Cyprus and Archbishop Makarios III Children's Hospital, Nicosia 2012, Cyprus. Villy MC; Service de Génétique, Institut Curie, 75248 Paris, France. Jahn A; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universitat Dresden, 01062 Dresden, Germany.; Hereditary Cancer Syndrome Center Dresden, 01307 Dresden, Germany.; German Cancer Consortium (DKTK), 69120 Dresden, Germany. Steinke-Lange V; Medical Genetics Center, 80335 Munich, Germany.; Arbeitsgruppe Erbliche Gastrointestinale Tumore, Medizinische Klinik und Poliklinik IV-Campus Innenstadt, Klinikum der Universität München, 81377 Munich, Germany. Baldassarri M; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy. Irmejs A; Institute of Oncology, Riga Stradins University, 1007 Riga, Latvia.; Breast Unit, Pauls Stradins Clinical University Hospital, 1002 Riga, Latvia. de Jong MM; Department of Genetics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands. Links TP; Department of Endocrinology, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands. Leter EM; Department of Clinical Genetics, Maastricht University Medical Center, 6229 ER Maastricht, The Netherlands. Bosch DGM; Department of Clinical Genetics, Erasmus MC Rotterdam, 3015 GD Rotterdam, The Netherlands. Høberg-Vetti H; Western Norway Familial Cancer Center, Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway. Tveit Haavind M; Western Norway Familial Cancer Center, Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway. Jørgensen K; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway. Mæhle L; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway. Blatnik A; Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, 1000 Ljubljana, Slovenia. Brunet J; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IDIBGI, 08916 Barcelona, Spain. Darder E; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IDIBGI, 08916 Barcelona, Spain. Tham E; Department of Clinical Genetics, Karolinska University Hospital, 14186 Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institute, 17177 Stockholm, Sweden. Hoogerbrugge N; Department of Human Genetics, Radboudumc Expert Center for PHTS, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Radboud Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. Vos JR; Department of Human Genetics, Radboudumc Expert Center for PHTS, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Radboud Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
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Cancers [Cancers (Basel)] 2024 Feb 27; Vol. 16 (5). Date of Electronic Publication: 2024 Feb 27.
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Autorzy:
Chau C; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. van Doorn R; Department of Dermatology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. van Poppelen NM; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.; Department of Ophthalmology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands. van der Stoep N; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. MensenkampAR; Department of Clinical Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. Sijmons RH; Department of Genetics, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands. van Paassen BW; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands. van den Ouweland AMW; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands. Naus NC; Department of Ophthalmology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands. van der Hout AH; Department of Genetics, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands. Potjer TP; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. Bleeker FE; Department of Clinical Genetics, Netherlands Cancer Institute, 1066 CX Amsterdam, The Netherlands. Wevers MR; Department of Clinical Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. van Hest LP; Department of Clinical Genetics, Amsterdam University Medical Centers, 1081 HV Amsterdam, The Netherlands. Jongmans MCJ; Department of Clinical Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Department of Clinical Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands. Marinkovic M; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. Bleeker JC; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. Jager MJ; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. Luyten GPM; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. Nielsen M; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. .
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Cancers [Cancers (Basel)] 2019 Aug 04; Vol. 11 (8). Date of Electronic Publication: 2019 Aug 04.
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Autorzy:
Arts P; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. Simons A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. AlZahrani MS; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. Yilmaz E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Medical Biology, Faculty of Medicine, Akdeniz University, Antalya, Turkey. AlIdrissi E; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. van Aerde KJ; Department of Pediatric immunology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands. Alenezi N; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. AlGhamdi HA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. AlJubab HA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. Al-Hussaini AA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. AlManjomi F; Department of Pediatric Hematology and Oncology, Comprehensive Cancer center, King Fahad Medical City, Riyadh, Saudi Arabia. Alsaad AB; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. Alsaleem B; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. Andijani AA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. Asery A; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. Ballourah W; Department of Pediatric Hematology and Oncology, Comprehensive Cancer center, King Fahad Medical City, Riyadh, Saudi Arabia. Bleeker-Rovers CP; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. van Deuren M; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. van der Flier M; Department of Pediatric immunology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pediatric Infectious Diseases and Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Habazi MK; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. Hehir-Kwa JY; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands. Henriet SS; Department of Pediatric immunology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands. Hoppenreijs EP; Department of Pediatric Rheumatology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands. Hortillosa S; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. Kerkhofs CH; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands. Keski-Filppula R; PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu, Oulu, Finland.; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland. Lelieveld SH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands. Lone K; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. MacKenzie MA; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands. MensenkampAR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Moilanen J; PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu, Oulu, Finland.; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland. Nelen M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Ten Oever J; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. Potjewijd J; Department of Clinical Immunology, Maastricht University Medical Center, Maastricht, The Netherlands. van Paassen P; Department of Clinical Immunology, Maastricht University Medical Center, Maastricht, The Netherlands. Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Simon A; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. Stokowy T; Department of Clinical Science, Department of Informatics, Computational Biology Unit, University of Bergen, 5020, Bergen, Norway. van de Vorst M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands. Wagner A; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. van Well GTJ; Department of Pediatrics, School for Nutrition and Translational Research in Metabolism (NUTRIM), Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands. Zafeiropoulou D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. Veltman JA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK. van Zelst-Stams WAG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Faqeih EA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. van de Veerdonk FL; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. Netea MG; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. .; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. .; Department of Human Genetics and Department of Internal Medicine, Radboud University Medical Center, P.O. Box 9101, 6500, HB, Nijmegen, The Netherlands. .
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Genome medicine [Genome Med] 2019 Jun 17; Vol. 11 (1), pp. 38. Date of Electronic Publication: 2019 Jun 17.
Typ publikacji:
Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
Autorzy:
Houlleberghs H; Division of Biological Stress Response, The Netherlands Cancer Institute, Amsterdam, The Netherlands. Goverde A; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands. Lusseveld J; Division of Biological Stress Response, The Netherlands Cancer Institute, Amsterdam, The Netherlands. Dekker M; Division of Biological Stress Response, The Netherlands Cancer Institute, Amsterdam, The Netherlands. Bruno MJ; Department of Gastroenterology and Hepatology, Erasmus University Medical Center, Rotterdam, The Netherlands. Menko FH; Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands. MensenkampAR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Spaander MCW; Department of Gastroenterology and Hepatology, Erasmus University Medical Center, Rotterdam, The Netherlands. Wagner A; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands. Hofstra RMW; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands. Te Riele H; Division of Biological Stress Response, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
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PLoS genetics [PLoS Genet] 2017 May 22; Vol. 13 (5), pp. e1006765. Date of Electronic Publication: 2017 May 22 (Print Publication: 2017).
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
Autorzy:
Vigorito E; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom. Kuchenbaecker KB; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom. Beesley J; Department of Genetics, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, Australia, 4029. Adlard J; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom. Agnarsson BA; Department of Pathology, University Hospital (Landspitali) and University of Iceland School of Medicine, Hringbraut, 101 Reykjavik, Iceland. Andrulis IL; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Ontario M5G 1X5, Canada. Arun BK; Department of Breast Medical Oncology and Clinical Cancer Genetics Program, University Of Texas MD Anderson Cancer Center, 1515 Pressler Street, CBP 5, Houston, TX, United States of America. Barjhoux L; Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, Lyon, France. Belotti M; Service de Génétique Oncologique, Institut Curie, 26, rue d'Ulm, Paris Cedex 05, France. Benitez J; Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain, and Human Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. Berger A; Dept of OB/GYN, Medical University of Vienna, Vienna, Austria. Bojesen A; Department of Clinical Genetics, Vejle Hospital, Kabbeltoft 25, Vejle, Denmark. Bonanni B; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), via Ripamonti 435, 20141 Milan, Italy. Brewer C; Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom. Caldes T; Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain. Caligo MA; Section of Genetic Oncology, Dept. of Laboratory Medicine, University and University Hospital of Pisa, Pisa Italy. Campbell I; Research Division, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett Street, Melbourne, VIC 8006, Australia. Chan SB; 1600 Divisadero Street, C415, San Francisco, CA 94143-1714, United States of America. Claes KB; Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000 Gent, Belgium. Cohn DE; Ohio State University Columbus Cancer Council GYN Oncology, 3651 Ridge Mill Drive, Columbus, OH 43026, United States of America. Cook J; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom. Daly MB; Department of Clinical Oncology, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, United States of America. Damiola F; Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, Lyon, France. Davidson R; Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, United Kingdom. Pauw Ad; Service de Génétique Oncologique, Institut Curie, 26, rue d'Ulm, Paris Cedex 05, France. Delnatte C; Unité d'oncogénétique, ICO-Centre René Gauducheau, Boulevard Jacques Monod, 44805 Nantes Saint Herblain Cedex, France. Diez O; Oncogenetics Group, Vall d'Hebron University Hospital, Vall d'Hebron Institute of Oncology (VHIO), and Universitat Autònoma, Passeig Vall d'Hebron 119-129, Barcelona, Spain. Domchek SM; Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, United States of America. Dumont M; Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec City (Quebec), Canada. Durda K; Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland. Dworniczak B; Institute of Human Genetics, University of Münster, Münster, Germany. Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom. Eccles D; University of Southampton Faculty of Medicine, Southampton University Hospitals NHS Trust, Southampton, United Kingdom. Edwinsdotter Ardnor C; Department of Radiation Sciences, Oncology, Umeå University, Umea, Sweden. Eeles R; Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, United Kingdom. Ejlertsen B; Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK-2100 Copenhagen, Denmark. Ellis S; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, United Kingdom. Evans DG; Genomic Medicine, Manchester Academic Health Sciences Centre, Institute of Human Development, Manchester University, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom. Feliubadalo L; Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l'Hospitalet, 199-203, 08908 L'Hospitalet, Barcelona, Spain. Fostira F; Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research 'Demokritos', Patriarchou Gregoriou & Neapoleos str., Aghia Paraskevi, Attiki, Athens, Greece. Foulkes WD; Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, Quebec, Canada. Friedman E; The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan 52621, and Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel. Frost D; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, United Kingdom. Gaddam P; Clinical Cancer Genetics Laboratory, Memorial Sloane Kettering Cancer Center, New York, NY, United States of America. Ganz PA; UCLA Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Center, 650 Charles Young Drive South, Room A2-125 HS, Los Angeles, CA 90095-6900, United States of America. Garber J; Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA, United States of America. Garcia-Barberan V; Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain. Gauthier-Villars M; Service de Génétique Oncologique, Institut Curie, 26, rue d'Ulm, Paris Cedex 05, France. Gehrig A; Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Würzburg, Germany. Gerdes AM; Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, København Ø, Denmark. Giraud S; Service de Génétique Moléculaire et Clinique, Hospices Civils de Lyon, Lyon cedex 04, France. Godwin AK; Department of Pathology and Laboratory Medicine, 3901 Rainbow Boulevard, 4019 Wahl Hall East, MS 3040, University of Kansas Medical Center, Kansas City, Kansas, United States of America. Goldgar DE; Department of Dermatology, University of Utah School of Medicine, 30 North 1900 East, SOM 4B454, Salt Lake City, UT 84132, United States of America. Hake CR; City of Hope Clinical Cancer Genetics Community Research Network, 1500 East Duarte Road, Duarte, CA 91010, United States of America. Hansen TV; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK-2100 Copenhagen, Denmark. Healey S; Department of Genetics, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, Australia, 4029. Hodgson S; Medical Genetics Unit, St George's, University of London, London, United Kingdom. Hogervorst FB; Family Cancer Clinic, Netherlands Cancer Institute, P.O. Box 90203, 1000 BE, Amsterdam, The Netherlands. Houdayer C; Service de Génétique Oncologique, Institut Curie, 26, rue d'Ulm, Paris Cedex 05, France. Hulick PJ; Center for Medical Genetics, NorthShore University Health System, University of Chicago Pritzker School of Medicine, 1000 Central Street, Suite 620, Evanston, IL 60201, United States of America. Imyanitov EN; N.N. Petrov Institute of Oncology, St.-Petersburg 197758, Russia. Isaacs C; Lombardi Comprehensive Cancer Center, Georgetown University, 3800 Reservoir Road NW, Washington, DC, United States of America. Izatt L; Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom. Izquierdo A; Genetic Counseling Unit, Hereditary Cancer Program, IDIBGI (Institut d'Investigació Biomèdica de Girona), Catalan Institute of Oncology, Av. França s/n. 1707 Girona, Spain. Jacobs L; Clinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, United States of America. Jakubowska A; Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland. Janavicius R; Vilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Dept. of Molecular and Regenerative Medicine, Santariskiu st., State Research Institute Centre for Innovative medicine, Zygymantu st. 9, Vilnius, Lithuania. Jaworska-Bieniek K; Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland. Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgaardsvej 21C, Aarhus N, Denmark. John EM; Department of Epidemiology, Cancer Prevention Institute of California, 2201 Walnut Avenue, Suite 300, Fremont, CA 94538, United States of America. Vijai J; Clinical Genetics Research Laboratory, Dept. of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10044, United States of America. Karlan BY; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA, United States of America. Kast K; Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany. Khan S; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. BOX 700 (Haartmaninkatu 8), 00029 HUS, Finland. Kwong A; The Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Center, Hong Kong Sanatorium and Hospital, Hong Kong China. Laitman Y; The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan 52621, Israel. Lester J; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA, United States of America. Lesueur F; Genetic Epidemiology of Cancer team, Inserm U900, Institut Curie, Mines ParisTech, 26 rue d'Ulm, 75248 Paris cedex 05, France. Liljegren A; Department of Oncology, Karolinska University Hospital, Stockholm, Sweden. Lubinski J; Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, Szczecin, Poland. Mai PL; Clinical Genetics Branch, DCEG, NCI, NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD, United States of America. Manoukian S; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133 Milan, Italy. Mazoyer S; Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, Lyon, France. Meindl A; Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany. MensenkampAR; Department of Human Genetics, Radboud university medical centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. Montagna M; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Via Gattamelata 64, Padua, Italy. Nathanson KL; Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, United States of America. Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, United States of America. Nevanlinna H; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. BOX 700 (Haartmaninkatu 8), 00029 HUS, Finland. Niederacher D; Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany. Olah E; Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary. Olopade OI; The University of Chicago Medicine, 5841 South Maryland Avenue, MC 2115 Chicago, IL 60637. Ong KR; West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom. Osorio A; Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain. Park SK; Department of Preventive Medicine, Seoul National University College of Medicine, Department of Biomedical Science, Seoul National University Graduate School, and Cancer Research Institute, Seoul National University, 103 Daehak-ro, Jongno-gu, Seoul 110-799, Korea. Paulsson-Karlsson Y; Department of Immunology, Genetics and Pathology, Uppsala University, SE-751 85 Uppsala, Sweden. Pedersen IS; Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Reberbansgade 15, Aalborg, Denmark. Peissel B; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133 Milan, Italy. Peterlongo P; IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, c/o IFOM-IEO campus, via Adamello 16, 20139 Milan, Italy. Pfeiler G; Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria. Phelan CM; Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, United States of America. Piedmonte M; NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Elm St & Carlton St, Buffalo, NY 14263, United States of America. Poppe B; Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000 Gent, Belgium. Pujana MA; Translational Research Laboratory, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain. Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predicted Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), c/o Amaedeolab, via GA Amadeo 42, 20133 Milan, Italy. Rennert G; Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine, 7 Michal St., Haifa 34362, Israel. Rodriguez GC; Division of Gynecologic Oncology, NorthShore University HealthSystem, Univ of Chicago, 2650 Ridge Avenue Suite 1507 Walgreens, Evanston, IL 60201, United States of America. Rookus MA; Department of Epidemiology, Netherlands Cancer Institute, P.O. Box 90203, 1000 BE, Amsterdam, The Netherlands. Ross EA; Biostatistics and Bioinformatics Facility, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, United States of America. Schmutzler RK; Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, University Hospital Cologne, Cologne, Germany. Simard J; Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec City (Quebec), Canada. Singer CF; Dept of OB/GYN, Medical University of Vienna, Vienna, Austria, and Waehringer Guertel 18-20, A 1090 Vienna, Austria. Slavin TP; Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, California 91010, United States of America. Soucy P; Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec City (Quebec), Canada. Southey M; Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Victoria, Australia. Steinemann D; Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany. 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Terry MB; Department of Epidemiology, Columbia University, New York, NY, United States of America. Thomassen M; Department of Clinical Genetics, Odense University Hospital, Sonder Boulevard 29, Odense C, Denmark. Tibiletti MG; UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Via O.Rossi 9, 21100 Varese, Italy. Tihomirova L; Latvian Biomedical Research and Study Centre, Ratsupites str 1, Riga, Latvia. Tognazzo S; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Via Gattamelata 64, Padua, Italy. van Rensburg EJ; Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia 0007, South Africa. Varesco L; Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) AOU San Martino-IST Istituto Nazionale per la Ricerca sul Cancro, largo Rosanna Benzi 10, 16132 Genoa, Italy. Varon-Mateeva R; Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany. Vratimos A; Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research 'Demokritos' Patriarchou Gregoriou & Neapoleos str., Aghia Paraskevi, Attiki, Athens, Greece. Weitzel JN; Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, California 91010, United States of America. McGuffog L; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom. Kirk J; Westmead Hospital, Familial Cancer Service, Hawkesbury Road, P.O. Box 533, Wentworthville, NSW 2145, Australia. Toland AE; Divison of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, 998 Biomedical Research Tower, Columbus, OH, United States of America. Hamann U; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany. Lindor N; Department of Health Sciences Research, Mayo Clinic, 13400 E. Scottsdale Blvd., Scottsdale, AZ, United States of America. Ramus SJ; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, California, United States of America. Greene MH; Clinical Genetics Branch, DCEG, NCI, NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD, United States of America. Couch FJ; Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, United States of America. Offit K; Clinical Genetics Research Laboratory, Dept. of Medicine, Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10044, United States of America. Pharoah PD; Department of Oncology, University of Cambridge, Cambridge, United Kingdom. Chenevix-Trench G; Department of Genetics, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, Australia, 4029. Antoniou AC; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
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Corporate Authors:
KConFab Investigators; Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia.
Źródło:
PloS one [PLoS One] 2016 Jul 27; Vol. 11 (7), pp. e0158801. Date of Electronic Publication: 2016 Jul 27 (Print Publication: 2016).
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
Autorzy:
de Voer RM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Hahn MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Weren RD; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. MensenkampAR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. van Zelst-Stams WA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Spruijt L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Kets CM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Zhang J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Venselaar H; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Vreede L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Schubert N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Tychon M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Derks R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Schackert HK; Abteilung Chirurgische Forschung, Technische Universität Dresden, Dresden, Germany. Geurts van Kessel A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Ligtenberg MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands. Kuiper RP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
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Źródło:
PLoS genetics [PLoS Genet] 2016 Feb 22; Vol. 12 (2), pp. e1005880. Date of Electronic Publication: 2016 Feb 22 (Print Publication: 2016).
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
Autorzy:
de Voer RM; Department of Human Genetics, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. Hahn MM; Department of Human Genetics, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. MensenkampAR; Department of Human Genetics, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. Hoischen A; Department of Human Genetics, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. Gilissen C; Department of Human Genetics, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. Henkes A; Department of Human Genetics, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. Spruijt L; Department of Human Genetics, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. van Zelst-Stams WA; Department of Human Genetics, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. Kets CM; Department of Human Genetics, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. Verwiel ET; Department of Human Genetics, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. Nagtegaal ID; Department of Pathology, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. Schackert HK; Department of Surgical Research, University Hospital Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307, Dresden, Germany. van Kessel AG; Department of Human Genetics, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. Hoogerbrugge N; Department of Human Genetics, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. Ligtenberg MJ; Department of Human Genetics, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.; Department of Pathology, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. Kuiper RP; Department of Human Genetics, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
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Źródło:
Scientific reports [Sci Rep] 2015 Sep 11; Vol. 5, pp. 14060. Date of Electronic Publication: 2015 Sep 11.
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
Autorzy:
Elsayed FA; Department of Pathology, LUMC, Leiden, The Netherlands. Kets CM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Ruano D; Department of Pathology, LUMC, Leiden, The Netherlands. van den Akker B; Department of Pathology, LUMC, Leiden, The Netherlands. MensenkampAR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Schrumpf M; Department of Pathology, LUMC, Leiden, The Netherlands. Nielsen M; Department of Clinical Genetics, LUMC, Leiden, The Netherlands. Wijnen JT; 1] Department of Clinical Genetics, LUMC, Leiden, The Netherlands [2] Department of Human Genetics, LUMC, Leiden, The Netherlands. Tops CM; Department of Clinical Genetics, LUMC, Leiden, The Netherlands. Ligtenberg MJ; 1] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands [2] Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands. Vasen HF; Department of Gastroenterology, LUMC, Leiden, The Netherlands. Hes FJ; Department of Clinical Genetics, LUMC, Leiden, The Netherlands. Morreau H; Department of Pathology, LUMC, Leiden, The Netherlands. van Wezel T; Department of Pathology, LUMC, Leiden, The Netherlands.
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.
Autorzy:
Kwok CT; Adult Cancer Program, Lowy Cancer Research Centre, Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia. Vogelaar IP; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands. van Zelst-Stams WA; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands. MensenkampAR; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands. Ligtenberg MJ; 1] Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands [2] Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands. Rapkins RW; Adult Cancer Program, Lowy Cancer Research Centre, Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia. Ward RL; Adult Cancer Program, Lowy Cancer Research Centre, Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia. Chun N; Program for Clinical Cancer Genetics, Departments of Medicine (Oncology) and Genetics, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA. Ford JM; Program for Clinical Cancer Genetics, Departments of Medicine (Oncology) and Genetics, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA. Ladabaum U; Gastrointestinal Cancer Prevention Program, Division of Gastroenterology and Hepatology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA. McKinnon WC; Department of Medicine and Familial Cancer Program, Vermont Cancer Centre, University of Vermont, Burlington, VT, USA. Greenblatt MS; Department of Medicine and Familial Cancer Program, Vermont Cancer Centre, University of Vermont, Burlington, VT, USA. Hitchins MP; 1] Adult Cancer Program, Lowy Cancer Research Centre, Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia [2] Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.
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