首页> Breast cancer research and treatment> Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.

Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.

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第一作者： Irene,Catucci

第一单位： IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy.

作者： Irene,Catucci ^[1] ; Silvia,Casadei ^[2] ; Yuan Chun,Ding ^[3] ; Sara,Volorio ^[4] ; Filomena,Ficarazzi ^[4] ; Anna,Falanga ^[5] ; Marina,Marchetti ^[5] ; Carlo,Tondini ^[6] ; Michela,Franchi ^[6] ; Aaron,Adamson ^[3] ; Jessica,Mandell ^[2] ; Tom,Walsh ^[2] ; Olufunmilayo I,Olopade ^[7] ; Siranoush,Manoukian ^[8] ; Paolo,Radice ^[9] ; Charite,Ricker ^[10] ; Jeffrey,Weitzel ^[3] ; Mary-Claire,King ^[2] ; Paolo,Peterlongo ^[1] ; Susan L,Neuhausen ^[11]

作者单位： IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy. ^[1] Departments of Medicine and Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. ^[2] Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA. ^[3] Cogentech, Cancer Genetic Test Laboratory, Milan, Italy. ^[4] Department of Immunohematology and Transfusion Medicine, Ospedale Papa Giovanni XXIII, Bergamo, Italy. ^[5] Unit of Oncology, Ospedale Papa Giovanni XXIII, Bergamo, Italy. ^[6] Department of Medicine, Center for Clinical Cancer Genetics and Global Health, University of Chicago, Chicago, IL, USA. ^[7] Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. ^[8] Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. ^[9] Department Medicine, Keck School of Medicine at University of Southern California, Los Angeles, CA, USA. ^[10] Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA. sneuhausen@coh.org. ^[11]

关键词 Breast cancer Founder mutations, Haplotype PALB2

医学主题词等位基因(Alleles);乳腺肿瘤(Breast Neoplasms);女(雌)性(Female);建立者效应(Founder Effect);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);单倍型(Haplotypes);杂合子(Heterozygote);人类(Humans);意大利(Italy);微卫星重复(Microsatellite Repeats);突变(Mutation);系谱(Pedigree)

DOI 10.1007/s10549-016-3981-y

PMID 27624329

发布时间 2018-11-13

基金项目

P30 CA033572/CA/NCI NIH HHS/United States R01 CA175716/CA/NCI NIH HHS/United States R01 CA184585/CA/NCI NIH HHS/United States R35 CA197458/CA/NCI NIH HHS/United States

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