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. |
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| 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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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 32906215 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Vargas-Parra+G%22">Vargas-Parra G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Del+Valle+J%22">Del Valle J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rofes+P%22">Rofes P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Gausachs+M%22">Gausachs M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Stradella+A%22">Stradella A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Moreno-Cabrera+JM%22">Moreno-Cabrera JM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Velasco+A%22">Velasco A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tornero+E%22">Tornero E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Menéndez+M%22">Menéndez M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Muñoz+X%22">Muñoz X</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Iglesias+S%22">Iglesias S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22López-Doriga+A%22">López-Doriga A</searchLink>; Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology, Barcelona, Spain.; Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Azuara+D%22">Azuara D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Campos+O%22">Campos O</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cuesta+R%22">Cuesta R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Darder+E%22">Darder E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22de+Cid+R%22">de Cid R</searchLink>; Programa de Medicina Predictiva i Personalitzada del Càncer-Institut Germans Trias i Pujol (PMPPC-IGTP), Genomes for Life-GCAT Lab Group, Badalona, Spain.<br /><searchLink fieldCode="AU" term="%22González+S%22">González S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Teulé+A%22">Teulé A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Navarro+M%22">Navarro M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Brunet+J%22">Brunet J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Capellá+G%22">Capellá G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pineda+M%22">Pineda M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Feliubadaló+L%22">Feliubadaló L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lázaro+C%22">Lázaro C</searchLink>; 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. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2020 Dec; Vol. 41 (12), pp. 2128-2142. <i>Date of Electronic Publication: </i>2020 Oct 14. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/humu.24110 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 2128 Titles: – TitleFull: Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Vargas-Parra G – PersonEntity: Name: NameFull: Del Valle J – PersonEntity: Name: NameFull: Rofes P – PersonEntity: Name: NameFull: Gausachs M – PersonEntity: Name: NameFull: Stradella A – PersonEntity: Name: NameFull: Moreno-Cabrera JM – PersonEntity: Name: NameFull: Velasco A – PersonEntity: Name: NameFull: Tornero E – PersonEntity: Name: NameFull: Menéndez M – PersonEntity: Name: NameFull: Muñoz X – PersonEntity: Name: NameFull: Iglesias S – PersonEntity: Name: NameFull: López-Doriga A – PersonEntity: Name: NameFull: Azuara D – PersonEntity: Name: NameFull: Campos O – PersonEntity: Name: NameFull: Cuesta R – PersonEntity: Name: NameFull: Darder E – PersonEntity: Name: NameFull: de Cid R – PersonEntity: Name: NameFull: González S – PersonEntity: Name: NameFull: Teulé A – PersonEntity: Name: NameFull: Navarro M – PersonEntity: Name: NameFull: Brunet J – PersonEntity: Name: NameFull: Capellá G – PersonEntity: Name: NameFull: Pineda M – PersonEntity: Name: NameFull: Feliubadaló L – PersonEntity: Name: NameFull: Lázaro C IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: 2020 Dec Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 1098-1004 Numbering: – Type: volume Value: 41 – Type: issue Value: 12 Titles: – TitleFull: Human mutation Type: main |
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