Variant Characterization of a Representative Large Pedigree Suggests "Variant Risk Clusters" Convey Varying Predisposition of Risk to Lynch Syndrome.

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第一作者： Mouadh,Barbirou

第一单位： Circulating Tumor Cell Core Laboratory, Population Science Division, Medical Oncology Department, Medical College, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA 19107, USA.;Center for Biomedical Informatics, Department of Health Management and Informatics, School of Medicine, University of Missouri, Columbia, MI 65211, USA.;Medical School, University of Tunis El Manar, Tunis 1068, Tunisia.

作者： Mouadh,Barbirou ^[1] ; Amanda A,Miller ^[2] ; Amel,Mezlini ^[3] ; Balkiss,Bouhaouala-Zahar ^[4] ; Peter J,Tonellato ^[5]

作者单位： Circulating Tumor Cell Core Laboratory, Population Science Division, Medical Oncology Department, Medical College, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA 19107, USA.;Center for Biomedical Informatics, Department of Health Management and Informatics, School of Medicine, University of Missouri, Columbia, MI 65211, USA.;Medical School, University of Tunis El Manar, Tunis 1068, Tunisia. ^[1] Circulating Tumor Cell Core Laboratory, Population Science Division, Medical Oncology Department, Medical College, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA 19107, USA.;Center for Biomedical Informatics, Department of Health Management and Informatics, School of Medicine, University of Missouri, Columbia, MI 65211, USA. ^[2] Medical Oncology Division, Salah Azeiz Oncology Institute, University of Tunis El Manar, Tunis 1068, Tunisia. ^[3] Medical School, University of Tunis El Manar, Tunis 1068, Tunisia.;Laboratory of Venoms and Therapeutic Biomolecules, LR16IPT08 Institute Pasteur of Tunis, University of Tunis El Manar, Tunis 1068, Tunisia. ^[4] Center for Biomedical Informatics, Department of Health Management and Informatics, School of Medicine, University of Missouri, Columbia, MI 65211, USA. ^[5]

关键词 Lynch syndrome colorectal cancer familial germline variants whole-genome sequencing “variant risk cluster” predisposition

DOI 10.3390/cancers15164074

PMID 37627102

发布时间 2024-09-23

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