Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.

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第一作者： Margherita,Patruno

第一单位： Center for Hereditary Tumors Research, Istituto Tumori Bari, Giovani Paolo II, IRCCS, 70124 Bari, Italy.

作者： Margherita,Patruno ^[1] ; Simona,De Summa ^[2] ; Nicoletta,Resta ^[3] ; Mariapia,Caputo ^[2] ; Silvia,Costanzo ^[1] ; Maria,Digennaro ^[1] ; Brunella,Pilato ^[2] ; Rosanna,Bagnulo ^[3] ; Antonino,Pantaleo ^[3] ; Cristiano,Simone ^[4] ; Maria Iole,Natalicchio ^[5] ; Elisabetta,De Matteis ^[6] ; Paolo,Tarantino ^[7] ; Stefania,Tommasi ^[2] ; Angelo,Paradiso ^[1]

作者单位： Center for Hereditary Tumors Research, Istituto Tumori Bari, Giovani Paolo II, IRCCS, 70124 Bari, Italy. ^[1] Molecular and Pharmacogenetics Diagnostic Laboratory, IRCCS-IstitutoTumori "Giovanni Paolo II", 70124 Bari, Italy. ^[2] Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, "Aldo Moro" University of Bari, Policlinico Hospital Bari, 70124 Bari, Italy. ^[3] Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, "Aldo Moro" University of Bari, Policlinico Hospital Bari, 70124 Bari, Italy.;Medical Genetics, National Institute of Gastroenterology "S. de Bellis" Research Hospital, Castellana Grotte, 70013 Bari, Italy. ^[4] Section of Clinic Pathology, OO.RR., 71122 Foggia, Italy. ^[5] Oncology Unit, "Vito Fazzi" Hospital, 73100 Lecce, Italy. ^[6] Medical Genetics Unit, "Vito Fazzi" Hospital, 73100 Lecce, Italy. ^[7]

关键词 Apulian population BRCA1 BRCA2 geographic distribution hereditary breast and ovarian cancer southern Italy

DOI 10.3390/cancers13184714

PMID 34572941

发布时间 2021-10-01

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