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Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.

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第一作者: B,Dalmasso
第一单位: IRCCS Ospedale Policlinico San Martino, Genetics of Rare Cancers, Genoa, Italy. brunasamia.dalmasso@dimi.unige.it.;Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy. brunasamia.dalmasso@dimi.unige.it.
作者: B,Dalmasso [1] ; L,Pastorino [2] ; V,Nathan [3] ; N N,Shah [4] ; J M,Palmer [3] ; M,Howlie [3] ; P A,Johansson [3] ; N D,Freedman [4] ; B D,Carter [5] ; L,Beane-Freeman [4] ; B,Hicks [6] ; A,Molven [7] ; H,Helgadottir [8] ; A,Sankar [9] ; H,Tsao [10] ; A J,Stratigos [11] ; P,Helsing [12] ; R,Van Doorn [13] ; N A,Gruis [13] ; M,Visser [13] ; K A W,Wadt [14] ; G,Mann [15] ; E A,Holland [15] ; E,Nagore [16] ; M,Potrony [17] ; S,Puig [18] ; C,Menin [19] ; K,Peris [20] ; M C,Fargnoli [21] ; D,Calista [22] ; N,Soufir [23] ; M,Harland [24] ; T,Bishop [24] ; P A,Kanetsky [25] ; D E,Elder [25] ; V,Andreotti [2] ; I,Vanni [2] ; W,Bruno [2] ; V,Höiom [8] ; M A,Tucker [4] ; X R,Yang [4] ; P A,Andresen [26] ; D J,Adams [9] ; M T,Landi [27] ; N K,Hayward [3] ; A M,Goldstein [4] ; P,Ghiorzo [2] ; GenoMEL ; MelaNostrum consortia
作者单位: IRCCS Ospedale Policlinico San Martino, Genetics of Rare Cancers, Genoa, Italy. brunasamia.dalmasso@dimi.unige.it.;Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy. brunasamia.dalmasso@dimi.unige.it. [1] IRCCS Ospedale Policlinico San Martino, Genetics of Rare Cancers, Genoa, Italy.;Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy. [2] Oncogenomics Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. [3] Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA. [4] American Cancer Society, Atlanta, GA, USA. [5] Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA. [6] Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.;Department of Pathology, Haukeland University Hospital, Bergen, Norway. [7] Department of Oncology Pathology, Karolinska Institutet and Karolinska University Hospital Solna, Stockholm, Sweden. [8] Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK. [9] Wellman Center for Photomedicine, Department of Dermatology, MGH Cancer Center, Massachusetts General Hospital, Boston, MA, USA. [10] First Department of Dermatology-Venereology, Andreas Sygros Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece. [11] Department of Dermatology, Oslo University Hospital, Oslo, Norway. [12] Department Dermatology, Leiden University Medical Center, Leiden, The Netherlands. [13] Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark. [14] Centre for Cancer Research, Westmead Institute for Medical Research, University of Sydney, Westmead, Australia. [15] Department of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain. [16] Biochemistry and Molecular Genetics Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain. [17] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.;Dermatology Department, Melanoma Unit, HospitalClínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain. [18] Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy. [19] Institute of Dermatology, Catholic University of the Sacred Heart, Rome, Italy.;Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy. [20] Dermatology, Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy. [21] Dermatology Unit, Maurizio Bufalini Hospital, Cesena, Italy. [22] Dépatement de Génétique Moléculaire, Hôpital Bichat-Claude Bernard, Paris, France. [23] Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK. [24] Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA. [25] Department of Pathology, Oslo University Hospital, Oslo, Norway. [26] Divison of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. [27]
DOI 10.1038/s41436-021-01240-8
PMID 34262154
发布时间 2025-05-30
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Genetics in medicine : official journal of the American College of Medical Genetics

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