A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndrome.

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作者： Clémentine,Legrand ^[1] ; Marine,Lebrun ^[2] ; Pierre,Naïbo ^[3] ; Magalie,Peysselon ^[1] ; Fabienne,Prieur ^[2] ; Caroline,Kientz ^[2] ; Françoise,Desseigne ^[4] ; Sandrine,Handallou ^[5] ; Jean-Marc,Rey ^[6] ; Sophie,Nambot ^[7] ; Vincent,Goussot ^[8] ; Nadim,Hamzaoui ^[9] ; Qing,Wang ^[10]

作者单位： CHU Grenoble Alpes, Genetic Service, Department of Genetics and Procreation, Grenoble, France. ^[1] CHU Saint Etienne, Genetic Service, Hôpital de Nord, Saint Etienne, France. ^[2] Centre Léon Bérard, Laboratory of Constitutional Genetics for Frequent Cancers HCL-CLB, Lyon, France. ^[3] Centre Léon Bérard, Department of Medicine, Lyon, France. ^[4] Centre Léon Bérard, Cancer Genetics Unit, Department of Public Health, Lyon, France. ^[5] Hôpital Arnaud de Villeneuve, Cellular and Hormonal Biology Service, Montpellier, France. ^[6] CHU Dijon Bourgogne, Genetic and Rare Disease Reference Center for Development Abnormalities in the East Interregion, Children's Hospital, Dijon, France. ^[7] Centre Georges François Leclerc, Department of Pathology and Tumor Biology, Dijon, France. ^[8] Hôpital Cochin, Genetic and Molecular Biology Service, Paris, France. ^[9] Centre Léon Bérard, Laboratory of Constitutional Genetics for Frequent Cancers HCL-CLB, Lyon, France. Electronic address: qing.wang@lyon.unicancer.fr. ^[10]

关键词 Cancer predisposition Hereditary colorectal cancer Lynch syndrome POLD1 gene PPAP syndrome