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

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Title: Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Authors: Vargas-Parra G; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Del Valle J; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Rofes P; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Gausachs M; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain., Stradella A; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Medical Oncology Department, Catalan Institute of Oncology, IDIBELL, Barcelona, Spain., Moreno-Cabrera JM; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Velasco A; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Tornero E; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Menéndez M; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Muñoz X; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Iglesias S; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., López-Doriga A; Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology, Barcelona, Spain.; Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), Madrid, Spain., Azuara D; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Campos O; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Cuesta R; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Darder E; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., de Cid R; Programa de Medicina Predictiva i Personalitzada del Càncer-Institut Germans Trias i Pujol (PMPPC-IGTP), Genomes for Life-GCAT Lab Group, Badalona, Spain., González S; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Teulé A; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Navarro M; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Brunet J; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.; Medical Sciences Department, School of Medicine, University of Girona, Girona, Spain., Capellá G; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Pineda M; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Feliubadaló L; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Lázaro C; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Source: Human mutation [Hum Mutat] 2020 Dec; Vol. 41 (12), pp. 2128-2142. Date of Electronic Publication: 2020 Oct 14.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1098-1004
DOI:10.1002/humu.24110