المؤلفون: Torres-Esquius S; Department of Hematology, Vall d'Hebron Institute of Oncology, Vall d'Hebron University Hospital, Barcelona, Spain., Beas F; Department of Hematology, Vall d'Hebron Institute of Oncology, Vall d'Hebron University Hospital, Barcelona, Spain., Chen-Liang TH; Department of Hematology, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain., Pomares H; Department of Hematology, Institut Català d'Oncologia. Hospital Duran i Reynals, IDIBELL. Hospitalet, Badalona, Barcelona, Spain., Santiago M; Department of Hematology, Hospital Universitario y Politecnico La Fe, Valencia, Spain., Varela ND; Department of Hematology, Hospital Universitario Central de Asturias, Instituto. Universitario (IUOPA), Instituto de Investigación del Principado de Asturias (ISPA), Oviedo, Spain., Liquori A; Department of Hematology, Hospital Universitario y Politecnico La Fe, Valencia, Spain., Hernandez F; Department of Hematology, Hospital Virgen de las Nieves, Granada, Spain., Xicoy B; Department of Hematology, Hospital Germans Trias i Pujol, Badalona, Spain., Hermosín L; Department of Hematology, Hospital de Jerez, Cádiz, Spain., Arnan M; Department of Hematology, Institut Català d'Oncologia. Hospital Duran i Reynals, IDIBELL. Hospitalet, Badalona, Barcelona, Spain., Tazón-Vega B; Department of Hematology, Vall d'Hebron Institute of Oncology, Vall d'Hebron University Hospital, Barcelona, Spain., Blanco A; Department of Hematology, Vall d'Hebron Institute of Oncology, Vall d'Hebron University Hospital, Barcelona, Spain., Cervera J; Department of Hematology, Hospital Universitario y Politecnico La Fe, Valencia, Spain., Diez-Campelo M; Department of Hematology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain., Lozano ML; Department of Hematology, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain., Valcárcel D; Department of Hematology, Vall d'Hebron Institute of Oncology, Vall d'Hebron University Hospital, Barcelona, Spain., Bosch F; Department of Hematology, Vall d'Hebron Institute of Oncology, Vall d'Hebron University Hospital, Barcelona, Spain., Montoro MJ; Department of Hematology, Vall d'Hebron Institute of Oncology, Vall d'Hebron University Hospital, Barcelona, Spain., Jerez A; Department of Hematology, Vall d'Hebron Institute of Oncology, Vall d'Hebron University Hospital, Barcelona, Spain.

مؤلفون مشاركون: GESMD centres

المصدر: British journal of haematology [Br J Haematol] 2024 Apr 19. Date of Electronic Publication: 2024 Apr 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

المؤلفون: Torres-Esquius S; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Llop-Guevara A; Experimental Therapeutics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.; Translational Medicine, DNA Damage Response Department, AstraZeneca, Barcelona, Spain., Gutiérrez-Enríquez S; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Romey M; Institute of Pathology, Universitätsklinikum Marburg, Marburg, Germany., Teulé À; Hereditary Cancer Program, Catalan Institute of Oncology, Bellvitge Biomedical Research Institute (IDIBELL), Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Llort G; Department of Medical Oncology, Hospital Universitari Parc Taulí, Sabadell, Spain., Herrero A; Department of Medical Oncology, Hospital Miguel Servet de Zaragoza, Zaragoza, Spain., Sánchez-Henarejos P; Department of Medical Oncology, Clinical University Hospital Virgen Arrixaca, Murcia, Spain., Vallmajó A; Genetic Counseling Unit, Arnau de Vilanova University Hospital, Lleida, Spain., González-Santiago S; Department of Medical Oncology, Hospital San Pedro de Alcántara, Cáceres, Spain., Chirivella I; Cancer Genetic Counseling, Hospital Clínico Universitario de Valencia, Valencia, Spain., Cano JM; Department of Medical Oncology, Hospital General Universitario de Ciudad Real, Ciudad Real, Spain., Graña B; Department of Medical Oncology, Xerencia de Xestión Integrada de A Coruña, Coruña, Spain., Simonetti S; Molecular Oncology Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Díaz de Corcuera I; Department of Medical Oncology, Hospital Universitario de Galdakao, Galdakao-Usansolo, Spain., Ramon Y Cajal T; Department of Medical Oncology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Sanz J; Unidad de Cáncer Familiar y Hereditario, Althaia Xarxa Assistencial Universitària de Manresa, Manresa, Spain., Serrano S; Department of Medical Oncology, Institute of Oncology of Southern Catalonia (IOCS), Hospital Universitari Sant Joan de Reus, Reus, Spain., Otero A; Institute of Oncology and Molecular Medicine of Asturias (IMOMA) S. A., Oviedo, Spain., Churruca C; Department of Medical Oncology, Hospital Universitario Donostia, San Sebastián, Gipuzkoa, Spain., Sánchez-Heras AB; Cancer Genetic Counselling Unit, Medical Oncology Department, Hospital General Universitario de Elche, Elche, Spain., Servitja S; Department of Medical Oncology, Hospital del Mar-CIBERONC, Barcelona, Spain., Guillén-Ponce C; Department of Medical Oncology, Hospital Universitario Ramón y Cajal (IRYCIS), Madrid, Spain., Brunet J; Hereditary Cancer Program, Catalan Institute of Oncology, Girona, Spain.; Precision Oncology Group (OncoGIR-Pro), Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain., Denkert C; Institute of Pathology, Universitätsklinikum Marburg, Marburg, Germany., Serra V; Experimental Therapeutics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Balmaña J; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.; Medical Oncology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

المصدر: JAMA network open [JAMA Netw Open] 2024 Apr 01; Vol. 7 (4), pp. e247811. Date of Electronic Publication: 2024 Apr 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

مواضيع طبية MeSH: Breast Neoplasms*/genetics , Breast Neoplasms*/epidemiology , Germ-Line Mutation* , Homologous Recombination*/genetics , Ovarian Neoplasms*/genetics , Ovarian Neoplasms*/epidemiology , Rad51 Recombinase*/genetics, Adult ; Female ; Humans ; DNA-Binding Proteins/genetics ; Genetic Predisposition to Disease ; Prevalence ; Retrospective Studies ; Spain/epidemiology

المؤلفون: Pla-Juher H; Medical Oncology, Catalan Institute of Oncology, Hospital Universitari Dr. Josep Trueta, Avinguda de França s/n, 17707, Girona, Spain. hpla@iconcologia.net.; Precision Oncology Group (OncoGIR-Pro), Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain. hpla@iconcologia.net.; Department of Epidemiology and Cancer Register, Girona, Spain. hpla@iconcologia.net., Pardo M; Precision Oncology Group (OncoGIR-Pro), Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain., Izquierdo ÀJ; Precision Oncology Group (OncoGIR-Pro), Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain.; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBGI, Girona, Spain.; Department of Epidemiology and Cancer Register, Girona, Spain., Darder E; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBGI, Girona, Spain.; Department of Epidemiology and Cancer Register, Girona, Spain., Carbó A; Medical Oncology, Catalan Institute of Oncology, Hospital Universitari Dr. Josep Trueta, Avinguda de França s/n, 17707, Girona, Spain.; Precision Oncology Group (OncoGIR-Pro), Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain.; Department of Epidemiology and Cancer Register, Girona, Spain., Munté E; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, L'Hospitalet, Barcelona, Spain., Torres-Esquius S; Department of Medical Oncology, Vall d'Hebrón Hospital, Barcelona, Spain., Balmaña J; Department of Medical Oncology, Vall d'Hebrón Hospital, Barcelona, Spain., Lázaro C; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, L'Hospitalet, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto Salud Carlos III, Madrid, Spain., Brunet JM; Medical Oncology, Catalan Institute of Oncology, Hospital Universitari Dr. Josep Trueta, Avinguda de França s/n, 17707, Girona, Spain.; Precision Oncology Group (OncoGIR-Pro), Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain.; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBGI, Girona, Spain.; Department of Epidemiology and Cancer Register, Girona, Spain., Barretina-Ginesta MP; Medical Oncology, Catalan Institute of Oncology, Hospital Universitari Dr. Josep Trueta, Avinguda de França s/n, 17707, Girona, Spain.; Precision Oncology Group (OncoGIR-Pro), Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain.; Department of Epidemiology and Cancer Register, Girona, Spain.

المصدر: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico [Clin Transl Oncol] 2024 Apr; Vol. 26 (4), pp. 1033-1037. Date of Electronic Publication: 2023 Sep 08.

نوع المنشور: Multicenter Study; Journal Article

بيانات الدورية: Publisher: Country of Publication: Italy NLM ID: 101247119 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1699-3055 (Electronic) Linking ISSN: 1699048X NLM ISO Abbreviation: Clin Transl Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Endometrial Neoplasms*/epidemiology , Endometrial Neoplasms*/genetics , Ovarian Neoplasms*/pathology, Humans ; Female ; Salpingo-oophorectomy ; BRCA1 Protein/genetics ; Ovariectomy ; BRCA2 Protein/genetics ; Genes, BRCA1 ; Genes, BRCA2 ; Mutation ; Cohort Studies ; Genetic Predisposition to Disease

المؤلفون: Rezqallah A; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Torres-Esquius S; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Llop-Guevara A; Experimental Therapeutics Group, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Cruellas M; Medical Oncology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Martinez MT; Medical Oncology Department, INCLIVA Biomedical Research Institute, Hospital Clínico de València, University of Valencia, Valencia, Spain., Romey M; Institute of Pathology, Universitätsklinikum Marburg, Marburg, Germany., Denkert C; Institute of Pathology, Universitätsklinikum Marburg, Marburg, Germany., Serra V; Experimental Therapeutics Group, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Chirivella I; Medical Oncology Department, INCLIVA Biomedical Research Institute, Hospital Clínico de València, University of Valencia, Valencia, Spain., Balmaña J; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.; Medical Oncology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

المصدر: JCO precision oncology [JCO Precis Oncol] 2024 Mar; Vol. 8, pp. e2300446.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 101705370 Publication Model: Print Cited Medium: Internet ISSN: 2473-4284 (Electronic) Linking ISSN: 24734284 NLM ISO Abbreviation: JCO Precis Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Breast Neoplasms*/diagnosis , Breast Neoplasms*/genetics , Breast Neoplasms*/pathology, Humans ; Female ; Genetic Predisposition to Disease/genetics ; Germ-Line Mutation/genetics ; Homologous Recombination/genetics ; Germ Cells/pathology

المؤلفون: López-Fernández A; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.; Medical Oncology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Genetic and Microbiology Department, Universitat Autònoma de Barcelona, Barcelona, Spain., Villacampa G; Oncology Data Science (ODysSey) Group, VHIO, Barcelona, Spain., Salinas M; Hereditary Cancer Program, Duran i Reynals Hospital, Catalan Institute of Oncology, IDIBELL, Barcelona, Spain., Grau E; Genetic and Microbiology Department, Universitat Autònoma de Barcelona, Barcelona, Spain.; Hereditary Cancer Program, Duran i Reynals Hospital, Catalan Institute of Oncology, IDIBELL, Barcelona, Spain., Darder E; Hereditary Cancer Program, Josep Trueta University Hospital, Catalan Institute of Oncology, IDIBGI, Girona, Spain., Carrasco E; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.; Medical Oncology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Solanes A; Hereditary Cancer Program, Germans Trias i Pujol Hospital, Catalan Institute of Oncology, Barcelona, Spain., Velasco A; Hereditary Cancer Program, Josep Trueta University Hospital, Catalan Institute of Oncology, IDIBGI, Girona, Spain., Torres M; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Munté E; Hereditary Cancer Program, Duran i Reynals Hospital, Catalan Institute of Oncology, IDIBELL, Barcelona, Spain., Iglesias S; Hereditary Cancer Program, Duran i Reynals Hospital, Catalan Institute of Oncology, IDIBELL, Barcelona, Spain., Torres-Esquius S; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Tuset N; Genetic Counseling Unit, Arnau de Vilanova University Hospital, Lleida, Spain., Diez O; Hereditary Cancer Genetics Group, Area of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Lázaro C; Hereditary Cancer Program, Molecular Diagnosis Laboratory, Catalan Institute of Oncology, Barcelona, Spain., Brunet J; Hereditary Cancer Program, Duran i Reynals Hospital, Catalan Institute of Oncology, IDIBELL, Barcelona, Spain.; Medical Sciences Dpt. School of Medicine, University of Girona, Girona, Spain., Corbella S; School of Psychology, Education and Sports Sciences, Ramon Llull University - Blanquerna, Barcelona, Spain., Balmaña J; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.; Medical Oncology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

المصدر: Journal of genetic counseling [J Genet Couns] 2023 Aug; Vol. 32 (4), pp. 778-787. Date of Electronic Publication: 2023 Feb 07.

نوع المنشور: Multicenter Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

مواضيع طبية MeSH: Stress, Psychological*/psychology , Neoplasms*/genetics, Humans ; Female ; Genetic Testing ; Genetic Counseling/psychology ; Anxiety/psychology

المؤلفون: Carrasco E; Hereditary Cancer Genetics Group, Medical Oncology Department, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Department of Pediatrics, Obstetrics and Gynecology, Preventative Medicine and Public Health, Autonomous University of Barcelona, Barcelona, Spain.; Hereditary Cancer Genetics Group, Medical oncology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, C/ Natzaret, 115-117, 08035, Barcelona, Spain., López-Fernández A; Hereditary Cancer Genetics Group, Medical Oncology Department, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Hereditary Cancer Genetics Group, Medical oncology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, C/ Natzaret, 115-117, 08035, Barcelona, Spain., Codina-Sola M; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516], ERN-ITHACA, Barcelona, Spain., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516], ERN-ITHACA, Barcelona, Spain., Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516], ERN-ITHACA, Barcelona, Spain., Villacampa G; Oncology Data Science (ODysSey) Group, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, C/ Natzaret, 115-117, 08035, Barcelona, Spain., Navarro V; Oncology Data Science (ODysSey) Group, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, C/ Natzaret, 115-117, 08035, Barcelona, Spain., Torres-Esquius S; Hereditary Cancer Genetics Group, Medical oncology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, C/ Natzaret, 115-117, 08035, Barcelona, Spain., Palau D; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516], ERN-ITHACA, Barcelona, Spain., Cruellas M; Hereditary Cancer Genetics Group, Medical Oncology Department, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Hereditary Cancer Genetics Group, Medical oncology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, C/ Natzaret, 115-117, 08035, Barcelona, Spain., Torres M; Hereditary Cancer Genetics Group, Medical Oncology Department, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain., Perez-Dueñas B; Paediatric Neurology Department, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Universitat Autónoma de Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain., Abulí A; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516], ERN-ITHACA, Barcelona, Spain., Diez O; Hereditary Cancer Genetics Group, Medical oncology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, C/ Natzaret, 115-117, 08035, Barcelona, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516], ERN-ITHACA, Barcelona, Spain., Sábado-Álvarez C; Department of Pediatric Oncology and Hematology, Vall d'Hebron Barcelona Hospital Campus, C/ Natzaret, 115-117, 08035, Barcelona, Spain., García-Arumí E; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516], ERN-ITHACA, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.; Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain., Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516], ERN-ITHACA, Barcelona, Spain., Moreno L; Department of Pediatric Oncology and Hematology, Vall d'Hebron Barcelona Hospital Campus, C/ Natzaret, 115-117, 08035, Barcelona, Spain lucas.moreno@vallhebron.cat.; Childhood Cancer and Blood Disorders Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Balmaña J; Hereditary Cancer Genetics Group, Medical Oncology Department, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.; Hereditary Cancer Genetics Group, Medical oncology, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, C/ Natzaret, 115-117, 08035, Barcelona, Spain.; Member of the European Reference Network on GENTURIS, ID: HP-ERN-2016 739547, GENTURIS, Barcelona, Spain.

المصدر: Journal of medical genetics [J Med Genet] 2023 Jul; Vol. 60 (7), pp. 685-691. Date of Electronic Publication: 2022 Nov 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Breast Neoplasms*/genetics, Humans ; Female ; Exome Sequencing ; Incidental Findings ; Genes, BRCA2

المؤلفون: Marmolejo Castañeda DH; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain., Cruellas Lapeña M; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain.; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Carrasco López E; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Aparicio Español G; Dermatology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Valverde Morales C; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain., López-Fernández A; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Pérez Ballesteros E; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Torres-Esquius S; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Pardo Muñoz M; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Balmaña Gelpi J; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain. jbalmana@vhio.net.; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain. jbalmana@vhio.net.

المصدر: Familial cancer [Fam Cancer] 2023 Jan; Vol. 22 (1), pp. 99-102. Date of Electronic Publication: 2022 Jul 04.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Rothmund-Thomson Syndrome*/diagnosis , Rothmund-Thomson Syndrome*/genetics , Bloom Syndrome*/diagnosis , Bloom Syndrome*/genetics, Male ; Humans ; Middle Aged ; RecQ Helicases/genetics

المؤلفون: Gomez-Puerto D; Medical Oncology Department, Vall d'Hebron Institute of Oncology (VHIO), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Llop-Guevara A; Experimental Therapeutics Group, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Cruellas M; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Torres-Esquius S; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., De La Torre J; Gynecologic Oncology and the Breast Pathology Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Peg V; Pathology Department, Vall d'Hebron University Hospital, Barcelona, Spain., Balmaña J; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Pimentel I; Medical Oncology Department, Vall d'Hebron Institute of Oncology (VHIO), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Breast Cancer and Melanoma Group, Vall d'Hebron Institute of Oncology (VHIO), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.

المصدر: Frontiers in oncology [Front Oncol] 2022 Sep 14; Vol. 12, pp. 963728. Date of Electronic Publication: 2022 Sep 14 (Print Publication: 2022).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101568867 Publication Model: eCollection Cited Medium: Print ISSN: 2234-943X (Print) Linking ISSN: 2234943X NLM ISO Abbreviation: Front Oncol Subsets: PubMed not MEDLINE

المؤلفون: López-Fernández A; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Villacampa G; Oncology Data Science (ODysSey) Group, VHIO, Barcelona, Spain., Grau E; Hereditary Cancer Program, Duran i Reynals Hospital, Catalan Institute of Oncology, Barcelona, Spain., Salinas M; Hereditary Cancer Program, Duran i Reynals Hospital, Catalan Institute of Oncology, Barcelona, Spain., Darder E; Hereditary Cancer Program, Josep Trueta University Hospital, Catalan Institute of Oncology, Barcelona, Spain., Carrasco E; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.; Medical Oncology Department, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Torres-Esquius S; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Iglesias S; Hereditary Cancer Program, Duran i Reynals Hospital, Catalan Institute of Oncology, Barcelona, Spain., Solanes A; Hereditary Cancer Program, Germans Trias i Pujol Hospital, Catalan Institute of Oncology, Barcelona, Spain., Gadea N; Medical Oncology Department, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Velasco A; Hereditary Cancer Program, Josep Trueta University Hospital, Catalan Institute of Oncology, Barcelona, Spain., Urgell G; Genetic Counseling Unit, Arnau de Vilanova University Hospital, Barcelona, Spain., Torres M; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Tuset N; Genetic Counseling Unit, Arnau de Vilanova University Hospital, Barcelona, Spain., Brunet J; Hereditary Cancer Program, Josep Trueta University Hospital, Catalan Institute of Oncology, Barcelona, Spain., Corbella S; School of Psychology, Education and Sports Sciences. Ramon Llull University-Blanquerna, Barcelona, Spain., Balmaña J; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain. jbalmana@vhio.net.; Medical Oncology Department, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain. jbalmana@vhio.net.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Aug; Vol. 23 (8), pp. 1450-1457. Date of Electronic Publication: 2021 Apr 06.

نوع المنشور: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: COVID-19* , Neoplasms*, Cohort Studies ; Communicable Disease Control ; Genetic Predisposition to Disease ; Humans ; Pandemics ; Prospective Studies ; SARS-CoV-2

المؤلفون: Rofes P; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain., Del Valle J; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain., Torres-Esquius S; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Medical Oncology Department, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035 Barcelona, Spain., Feliubadaló L; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain., Stradella A; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Medical Oncology Department, Catalan Institute of Oncology, IDIBELL, 08916 Barcelona, Spain., Moreno-Cabrera JM; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain., López-Doriga A; Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology, 08916 Barcelona, Spain.; Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), 28029 Madrid, Spain., Munté E; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain., De Cid R; Genomes for Life-GCAT Lab Group, IGTP, Institut Germans Trias i Pujol (IGTP), 08916 Badalona, Spain., Campos O; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain., Cuesta R; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain., Teulé Á; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain., Grau È; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain., Sanz J; Genetic Counselling Unit, Medical Oncology Department, Althaia Xarxa Assistencial Universitària de Manresa, 08243 Manresa, Spain., Capellá G; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain., Díez O; Catalan Health Institute, Vall d'Hebron Hospital Universitari, 08035 Barcelona, Spain.; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), 08035 Barcelona, Spain., Brunet J; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain.; Medical Sciences Department, School of Medicine, University of Girona, 17007 Girona, Spain., Balmaña J; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Medical Oncology Department, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035 Barcelona, Spain., Lázaro C; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain.

المصدر: Genes [Genes (Basel)] 2021 Jan 23; Vol. 12 (2). Date of Electronic Publication: 2021 Jan 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Genetic Variation*, Hereditary Breast and Ovarian Cancer Syndrome/*genetics , Triple Negative Breast Neoplasms/*epidemiology , Triple Negative Breast Neoplasms/*genetics , Tumor Suppressor Proteins/*genetics , Ubiquitin-Protein Ligases/*genetics, Alleles ; Biomarkers, Tumor ; Cohort Studies ; Female ; Genetic Association Studies ; Genetic Testing ; Genotype ; Germ-Line Mutation ; Hereditary Breast and Ovarian Cancer Syndrome/epidemiology ; Humans ; Phenotype ; Population Surveillance ; Spain/epidemiology