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Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Autor: Homan CC; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia., Drazer MW; Departments of Medicine and Human Genetics, Section of Hematology/Oncology, Center for Clinical Cancer Genetics, and The University of Chicago Comprehensive Cancer Center, The University of Chicago, Chicago, IL., Yu K; Division of Intramural Research, Oncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Lawrence DM; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia., Feng J; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia., Arriola-Martinez L; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia., Pozsgai MJ; Departments of Medicine and Human Genetics, Section of Hematology/Oncology, Center for Clinical Cancer Genetics, and The University of Chicago Comprehensive Cancer Center, The University of Chicago, Chicago, IL., McNeely KE; Departments of Medicine and Human Genetics, Section of Hematology/Oncology, Center for Clinical Cancer Genetics, and The University of Chicago Comprehensive Cancer Center, The University of Chicago, Chicago, IL., Ha T; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia., Venugopal P; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia., Arts P; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia., King-Smith SL; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia., Cheah J; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia., Armstrong M; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia., Wang P; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia., Bödör C; HCEMM-SE Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary., Cantor AB; Division of Hematology/Oncology, Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA., Cazzola M; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Degelman E; Alberta Children's Hospital, Calgary, Alberta, Canada., DiNardo CD; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX., Duployez N; Laboratory of Hematology, Biology and Pathology Center, Centre Hospitalier Regional Universitaire de Lille, Lille, France.; Jean-Pierre Aubert Research Center, INSERM, Universitaire de Lille, Lille, France., Favier R; Assistance Publique-Hôpitaux de Paris, Armand Trousseau Children's Hospital, Paris, France., Fröhling S; Department of Translational Medical Oncology, National Center for Tumor Diseases and German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany., Rio-Machin A; Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, United Kingdom., Klco JM; St Jude Children's Research Hospital, Memphis, TN., Krämer A; Clinical Cooperation Unit Molecular Hematology/Oncology, German Cancer Research Center (DKFZ) and Department of Internal Medicine V, University of Heidelberg, Heidelberg, Germany., Kurokawa M; Department of Hematology & Oncology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Lee J; Department of Haematology-Oncology, National University Cancer Institute, National University Health System, Singapore., Malcovati L; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Morgan NV; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom., Natsoulis G; Imago Biosciences, Inc, San Francisco, CA., Owen C; Division of Hematology and Hematological Malignancies, Foothills Medical Centre, Calgary, AB, Canada., Patel KP; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX., Preudhomme C; Laboratory of Hematology, Biology and Pathology Center, Centre Hospitalier Regional Universitaire de Lille, Lille, France.; Jean-Pierre Aubert Research Center, INSERM, Universitaire de Lille, Lille, France., Raslova H; Institut Gustave Roussy, Université Paris Sud, Equipe Labellisée par la Ligue Nationale Contre le Cancer, Villejuif, France., Rienhoff H; Imago Biosciences, Inc, San Francisco, CA., Ripperger T; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Schulte R; Division of Pediatric Hematology and Oncology, Riley Children's Hospital, Indiana University School of Medicine, Indianapolis, IN., Tawana K; Department of Haematology, Addenbrooke's Hospital, Cambridge, United Kingdom., Velloso E; Service of Hematology, Transfusion and Cell Therapy and Laboratory of Medical Investigation in Pathogenesis and Directed Therapy in Onco-Immuno-Hematology (LIM-31) HCFMUSP, University of Sao Paulo Medical School, Sao Paulo, Brazil.; Genetics Laboratory, Hospital Israelita Albert Einstein, Sao Paulo, Brazil., Yan B; Department of Haematology-Oncology, National University Cancer Institute, National University Health System, Singapore., Kim E; National Cancer Institute, National Institutes of Health, Rockville, MD., Sood R; Division of Intramural Research, Oncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Hsu AP; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Holland SM; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Phillips K; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia., Poplawski NK; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Babic M; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia., Wei AH; Department of Haematology, Peter McCallum Cancer Centre, Royal Melbourne Hospital, Walter and Eliza Hall Institute of Medical Research, The University of Melbourne, Melbourne, VIC, Australia., Forsyth C; Central Coast Haematology, North Gosford, NSW, Australia., Mar Fan H; Department of Medicine, The University of Queensland, Brisbane, QLD, Australia., Lewis ID; Adelaide Oncology & Haematology, North Adelaide, SA, Australia., Cooney J; Department of Haematology, Fiona Stanley Hospital, Murdoch, WA, Australia., Susman R; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia., Fox LC; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia., Blombery P; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia., Singhal D; Department of Haematology, SA Pathology, Adelaide, SA, Australia., Hiwase D; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Department of Haematology, SA Pathology, Adelaide, SA, Australia., Phipson B; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; Department of Paediatrics and Department of Molecular Biology, The University of Melbourne, Melbourne, VIC, Australia., Schreiber AW; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia.; School of Biological Sciences, The University of Adelaide, Adelaide, SA, Australia., Hahn CN; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Scott HS; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Liu P; Division of Intramural Research, Oncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Godley LA; Departments of Medicine and Human Genetics, Section of Hematology/Oncology, Center for Clinical Cancer Genetics, and The University of Chicago Comprehensive Cancer Center, The University of Chicago, Chicago, IL., Brown AL; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.

Publikováno v: Blood advances [Blood Adv] 2023 Oct 24; Vol. 7 (20), pp. 6092-6107.

Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers.

Autor: Joo JE; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia. ji.joo@unimelb.edu.au.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia. ji.joo@unimelb.edu.au., Mahmood K; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.; Melbourne Bioinformatics, The University of Melbourne, Melbourne, VIC, Australia., Walker R; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia., Georgeson P; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia., Candiloro I; Beacon Biomarkers Lab, Department of Surgery, Austin Health, University of Melbourne, Heidelberg, VIC, Australia., Clendenning M; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia., Como J; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia., Joseland S; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia., Preston S; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia., Graversen L; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Wilding M; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia., Field M; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia., Lemon M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Wakeling J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.; Tasman Health Care, Southport, QLD, Australia., Marfan H; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Susman R; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Isbister J; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia., Edwards E; Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Sydney, NSW, 2145, Australia., Bowman M; Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Sydney, NSW, 2145, Australia., Kirk J; Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Sydney, NSW, 2145, Australia., Ip E; Department of Cancer Genetics, Liverpool Hospital, Liverpool, NSW, Australia., McKay L; The Cabrini Family Cancer Clinic, Cabrini Health, Malvern, VIC, Australia., Antill Y; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia.; The Cabrini Family Cancer Clinic, Cabrini Health, Malvern, VIC, Australia., Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Carlton, VIC, Australia., Boussioutas A; Department of Gastroenterology, The Alfred Hospital, Melbourne, Parkville, VIC, 3010, Australia.; Central Clinical School, Monash University, Melbourne, VIC, 3004, Australia., Macrae FA; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia.; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, VIC, Australia.; Department of Medicine, The University of Melbourne, Parkville, Australia., Dobrovic A; Beacon Biomarkers Lab, Department of Surgery, Austin Health, University of Melbourne, Heidelberg, VIC, Australia., Jenkins MA; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Carlton, VIC, Australia., Rosty C; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.; Envoi Specialist Pathologists, Brisbane, Australia.; University of Queensland, Brisbane, Australia., Winship IM; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia.; Department of Medicine, The University of Melbourne, Parkville, Australia., Buchanan DD; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia.

Publikováno v: Clinical epigenetics [Clin Epigenetics] 2023 Jun 03; Vol. 15 (1), pp. 95. Date of Electronic Publication: 2023 Jun 03.

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Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

Autor: Mikropoulos, C., Selkirk, C.G.H., Saya, S., Bancroft, E., Vertosick, E., Dadaev, T., Brendler, C., Page, E., Dias, A., Evans, D.G., Rothwell, J., Maehle, L., Axcrona, K., Richardson, K., Eccles, D., Jensen, T., Osther, P.J., Asperen, C.J. van, Vasen, H., Kiemeney, L.A., Ringelberg, J., Cybulski, C., Wokolorczyk, D., Hart, R., Glover, W., Lam, J., Taylor, L., Salinas, M., Feliubadalo, L., Oldenburg, R., Cremers, R., Verhaegh, G., Zelst-Stams, W.A. van, Oosterwijk, J.C., Cook, J., Rosario, D.J., Buys, S.S., Conner, T., Domchek, S., Powers, J., Ausems, M.G.E.M., Teixeira, M.R., Maia, S., Izatt, L., Schmutzler, R., Rhiem, K., Foulkes, W.D., Boshari, T., Davidson, R., Ruijs, M., Helderman-van den Enden, A.T.J.M., Andrews, L., Walker, L., Snape, K., Henderson, A., Jobson, I., Lindeman, G.J., Liljegren, A., Harris, M., Adank, M.A., Kirk, J., Taylor, A., Susman, R., Chen-Shtoyerman, R., Pachter, N., Spigelman, A., Side, L., Zgajnar, J., Mora, J., Brewer, C., Gadea, N., Brady, A.F., Gallagher, D., Os, T. van, Donaldson, A., Stefansdottir, V., Barwell, J., James, P.A., Murphy, D., Friedman, E., Nicolai, N., Greenhalgh, L., Obeid, E., Murthy, V., Copakova, L., McGrath, J., Teo, S.H., Strom, S., Kast, K., Leongamornlert, D.A., Chamberlain, A., Pope, J., Newlin, A.C., Aaronson, N., Ardern-Jones, A., Bangma, C., Castro, E., Dearnaley, D., Eyfjord, J., Falconer, A., Foster, C.S., Gronberg, H., Hamdy, F.C., Johannsson, O., Khoo, V., Lubinski, J., Grindedal, E.M., McKinley, J., Shackleton, K., Mitra, A.V., Moynihan, C., Rennert, G., Suri, M., Tricker, K., Moss, S., Kote-Jarai, Z., Vickers, A., Lilja, H., Helfand, B.T., Eeles, R.A., IMPACT Study Collaborators

Publikováno v: BRITISH JOURNAL OF CANCER
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
British Journal of Cancer, 118(2), 266-276

Background: Prostate-specific antigen (PSA) and PSA-velocity (PSAV) have been used to identify men at risk of prostate cancer (PrCa). The IMPACT study is evaluating PSA screening in men with a known genetic predisposition to PrCa due to BRCA1/2 mutat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a1899312a2b83ca1fccfa64274e2645a