Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.

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第一作者： Gardenia,Vargas-Parra

第一单位： Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.

作者： Gardenia,Vargas-Parra ^[1] ; Jesús,Del Valle ^[2] ; Paula,Rofes ^[3] ; Mireia,Gausachs ^[1] ; Agostina,Stradella ^[2] ; José M,Moreno-Cabrera ^[3] ; Angela,Velasco ^[1] ; Eva,Tornero ^[2] ; Mireia,Menéndez ^[3] ; Xavier,Muñoz ^[1] ; Silvia,Iglesias ^[2] ; Adriana,López-Doriga ^[1] ; Daniel,Azuara ^[2] ; Olga,Campos ^[4] ; Raquel,Cuesta ^[1] ; Esther,Darder ^[2] ; Rafael,de Cid ^[3] ; Sara,González ^[1] ; Alex,Teulé ^[2] ; Matilde,Navarro ^[3] ; Joan,Brunet ^[1] ; Gabriel,Capellá ^[2] ; Marta,Pineda ^[3] ; Lídia,Feliubadaló ^[1] ; Conxi,Lázaro ^[2]

作者单位： Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain. ^[1] Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain. ^[2] Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. ^[3] Medical Oncology Department, Catalan Institute of Oncology, IDIBELL, Barcelona, Spain. ^[4] Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology, Barcelona, Spain. ^[5] Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), Madrid, Spain. ^[6] Programa de Medicina Predictiva i Personalitzada del Càncer-Institut Germans Trias i Pujol (PMPPC-IGTP), Genomes for Life-GCAT Lab Group, Badalona, Spain. ^[7] Medical Sciences Department, School of Medicine, University of Girona, Girona, Spain. ^[8]

关键词 CHEK2 hereditary cancer low penetrance molecular diagnosis risk allele variant classification