ArticleResearch square2026
A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.
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Article in Research square, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
57 authors.
Linh T Bui-RabornLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Lorenza PastorinoDepartment of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy.
Donato CalistaDepartment of Dermatology, Maurizio Bufalini Hospital, Cesena, Italy.
Phuc H HoangIntegrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID 0000-0002-9265-8525
Jessica L ScalesLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Mai XuLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Sophie PapiernikLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID 0009-0008-6361-6087
Xiaoyu WangBiostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Bruna DalmassoCancer Genetics, IRCCS Azienda Ospedaliera Metropolitana, Genoa, Italy.
Rohit ThakurLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Stefania PellegriniImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
Joshuah YonLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID 0000-0002-0463-1470
Timothy MyersLaboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Chia-Han LeeLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Jacob WilliamsBiostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID 0000-0002-6425-1365
Haoyu ZhangBiostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID 0000-0001-6423-0444
Tongwu ZhangBiostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID 0000-0003-2124-2706
William BrunoDepartment of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy.
Zaida García-CasadoLaboratory of Molecular Biology, Instituto Valenciano de Oncología, València, Spain.
Enrica Teresa TandaDepartment of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy.
Francesco SpagnoloMedical Oncology 2, IRCCS Azienda Ospedaliera Metropolitana, Genoa, Italy.
Monia Di PreteDermatopathology Research Unit, San Gallicano Dermatological Institute IRCCS, Rome, Italy.
Irene BottilloLaboratory of Medical Genetics, Experimental Medicine Department, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
Siranoush ManukianUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Maria Chiara ScainiImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
Katerina P Kypreou1st University Clinic of Dermatological and Venereal Diseases, Andreas Syggros Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Lucia Di NardoImmunology Research Core Facility - Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Miriam PotronyBiochemistry and Molecular Genetics Department, Hospital Clínic of Barcelona, IDIBAPS, Barcelona, Spain.
Paula Aguilera-PeiróDermatology, Hospital Clínic de Barcelona, Barcelona, Spain.
Nesreen ShahrourIntegrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Tam-Anh TranIntegrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Yao YuDepartment of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.ORCID 0000-0002-2727-1746
Chad D HuffDepartment of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.ORCID 0000-0002-1100-9364
Paul ScheetDepartment of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.ORCID 0000-0002-5173-7497
Lee E WhelessDepartment of Dermatology, Vanderbilt University Medical Center, Nashville, TN, USA.
Rebecca I HartmanDermatology Section, Veterans Affairs Boston Healthcare System, Jamaica Plain, MA, USA.
Jia LiuCancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
Weiyin ZhouCancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.ORCID 0000-0002-0467-3064
Wen LuoCancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
Aurélie VogtCancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
Kristine M JonesCancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.ORCID 0000-0003-1584-8920
Belynda D HicksCancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
Monica RodolfoUnit of Translational Immunology, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Irene Stefanaki1st University Clinic of Dermatological and Venereal Diseases, Andreas Syggros Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Cristina PellegriniDepartment of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
Carlo CotaDermatopathology Research Unit, San Gallicano Dermatological Institute IRCCS, Rome, Italy.
Chiara MeninImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.ORCID 0000-0002-8907-772X
Maria Concetta FargnoliDermatopathology Research Unit, San Gallicano Dermatological Institute IRCCS, Rome, Italy.
Ketty PerisDermatologia, Dipartimento Universitario di Medicina e Chirurgia Traslazionale, Università Cattolica del Sacro Cuore, Rome, Italy.
Susana PuigBiochemistry and Molecular Genetics Department, Hospital Clínic of Barcelona, IDIBAPS, Barcelona, Spain.
Eduardo NagoreDermatology, Instituto Valenciano de Oncología, València, Spain.
Paola GrammaticoExperimental Medicine Department, Laboratory of Medical Genetics, Sapienza University of Rome, Rome, Italy.
Italian Melanoma Intergroup, The MelaNostrum Consortium
Jianxin ShiBiostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID 0000-0001-8606-4707
Paola GhiorzoDepartment of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy.ORCID 0000-0002-3651-8173
Kevin M BrownLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID 0000-0002-8558-6711
Maria Teresa LandiIntegrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID 0000-0003-4507-329X
Funding
CSRD VA IK2 CX002452
Abstract
Approximately 10% of cutaneous malignant melanoma cases are familial. Variants in
Indexed as
CDKN2Acutaneous melanomadeletionfamily studyfounder mutationgenetic susceptibilitystructural variant
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