Relationship of immunohistochemistry, copy number aberrations and epigenetic disorders with BRCAness pattern in hereditary and sporadic breast cancer

Autor: Murria Estal R, Palanca Suela S, de Juan Jiménez I, Alenda Gonzalez C, Egoavil Rojas C, García-Casado Z, López Guerrero JA, Juan Fita MJ, Sánchez Heras AB, Segura Huerta Á, Santaballa Bertrán A, Chirivella González I, Llop García M, Pérez Simó G, Barragán González E, Bolufer Gilabert P

Publikováno v: FAMILIAL CANCER
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante

The study aims to identify the relevance of immunohistochemistry (IHC), copy number aberrations (CNA) and epigenetic disorders in BRCAness breast cancers (BCs). We studied 95 paraffin included BCs, of which 41 carried BRCA1/BRCA2 germline mutations a

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https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=4594

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SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

Autor: Moreno-Cabrera JM; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge-IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Barcelona 08908, Spain.; Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid, 28029, Spain.; Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology (ICO), L'Hospitalet del Llobregat, Barcelona 08908, Spain., Feliubadaló L; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge-IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Barcelona 08908, Spain.; Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid, 28029, Spain., Pineda M; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge-IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Barcelona 08908, Spain.; Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid, 28029, Spain., Prada-Dacasa P; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge-IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Barcelona 08908, Spain.; Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid, 28029, Spain., Ramos-Muntada M; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge-IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Barcelona 08908, Spain.; Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid, 28029, Spain., Del Valle J; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge-IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Barcelona 08908, Spain.; Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid, 28029, Spain., Brunet J; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge-IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Barcelona 08908, Spain.; Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid, 28029, Spain., Gel B; Hereditary Cancer Group, Program for Predictive and Personalized Medicine of Cancer, Germans Trias i Pujol Research Institute (PMPPC-IGTP), Campus Can Ruti, Ctra de Can Ruti, Camí de les Escoles, s/n, Badalona 08916, Spain., Currás-Freixes M; Familial Cancer Clinical Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro, 3, Madrid 28029, Spain., Calsina B; Familial Cancer Clinical Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro, 3, Madrid 28029, Spain., Salazar-Hidalgo ME; Familial Cancer Clinical Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro, 3, Madrid 28029, Spain., Rodríguez-Balada M; Institut d'Oncologia de la Catalunya Sud (IOCS), Hospital Universitari Sant Joan de Reus (HUSJR), Institut d'Investigació Sanitària Pere Virgili (IISPV), Universitat Rovira i Virgili (URV), Dr. Josep Laporte, 2, Reus 43204, Spain., Roig B; Institut d'Oncologia de la Catalunya Sud (IOCS), Hospital Universitari Sant Joan de Reus (HUSJR), Institut d'Investigació Sanitària Pere Virgili (IISPV), Universitat Rovira i Virgili (URV), Dr. Josep Laporte, 2, Reus 43204, Spain., Fernández-Castillejo S; Institut d'Oncologia de la Catalunya Sud (IOCS), Hospital Universitari Sant Joan de Reus (HUSJR), Institut d'Investigació Sanitària Pere Virgili (IISPV), Universitat Rovira i Virgili (URV), Dr. Josep Laporte, 2, Reus 43204, Spain., Durán Domínguez M; Cancer Genetics Group, Unit of Excellence Institute of Biomedicine and Molecular Genetics, University of Valladolid-Spanish National Research Council (IBGM, UVa- CSIC), Sanz y Fores, 3, Valladolid 47003, Spain., Arranz Ledo M; Cancer Genetics Group, Unit of Excellence Institute of Biomedicine and Molecular Genetics, University of Valladolid-Spanish National Research Council (IBGM, UVa- CSIC), Sanz y Fores, 3, Valladolid 47003, Spain., Infante Sanz M; Cancer Genetics Group, Unit of Excellence Institute of Biomedicine and Molecular Genetics, University of Valladolid-Spanish National Research Council (IBGM, UVa- CSIC), Sanz y Fores, 3, Valladolid 47003, Spain., Castillejo A; Unidad de Genética Molecular, Hospital General Universitario de Elche. Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO), Av. de Catalunya, 21, Elche 03203, Spain., Dámaso E; Unidad de Genética Molecular, Hospital General Universitario de Elche. Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO), Av. de Catalunya, 21, Elche 03203, Spain., Soto JL; Unidad de Genética Molecular, Hospital General Universitario de Elche. Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO), Av. de Catalunya, 21, Elche 03203, Spain., de Miguel M; Laboratorio de cáncer hereditario, Servicio de Bioquímica clínica-Análisis clínicos, Hospital Universitario 12 de Octubre, Av. de Córdoba, s/n, Madrid 28041, Spain., Hidalgo Calero B; Laboratorio de cáncer hereditario, Servicio de Bioquímica clínica-Análisis clínicos, Hospital Universitario 12 de Octubre, Av. de Córdoba, s/n, Madrid 28041, Spain., Sánchez-Zapardiel JM; Laboratorio de cáncer hereditario, Servicio de Bioquímica clínica-Análisis clínicos, Hospital Universitario 12 de Octubre, Av. de Córdoba, s/n, Madrid 28041, Spain., Ramon Y Cajal T; Familial Cancer Clinic, Medical Oncology, Hospital de la Santa Creu i Sant Pau, Sant Quintí, 89, Barcelona 08041, Spain., Lasa A; Genetics Department, Hospital de la Santa Creu i Sant Pau, Sant Quintí, 89, Barcelona 08041, Spain.; Biomedical Network Research Centre On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid 28029, Spain., Gisbert-Beamud A; Institut de Recerca Sant Pau (IR Sant Pau), Sant Quintí, 77, Barcelona 08041, Spain., López-Novo A; Fundación Pública Galega de Medicina Xenómica (SERGAS), Instituto de Investigación Sanitaria de Santiago, Grupo de Medicina Xenómica-USC, Av. Barcelona, s/n, Santiago de Compostela 15706, Spain., Ruiz-Ponte C; Biomedical Network Research Centre On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid 28029, Spain.; Fundación Pública Galega de Medicina Xenómica (SERGAS), Instituto de Investigación Sanitaria de Santiago, Grupo de Medicina Xenómica-USC, Av. Barcelona, s/n, Santiago de Compostela 15706, Spain., Potrony M; Biomedical Network Research Centre On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid 28029, Spain.; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FRCB-IDIBAPS), University of Barcelona, Rosselló, 149, Barcelona 08036, Spain., Álvarez-Mora MI; Biomedical Network Research Centre On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid 28029, Spain.; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FRCB-IDIBAPS), University of Barcelona, Rosselló, 149, Barcelona 08036, Spain., Osorio A; Biomedical Network Research Centre On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid 28029, Spain.; Departamento de Genética y Genómica, Hospital Universitario Fundación Jiménez Diaz (IIS-FJD), Av. de los Reyes Católicos, 2, Madrid 28040, Spain., Lorda-Sánchez I; Biomedical Network Research Centre On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid 28029, Spain.; Departamento de Genética y Genómica, Hospital Universitario Fundación Jiménez Diaz (IIS-FJD), Av. de los Reyes Católicos, 2, Madrid 28040, Spain., Robledo M; Biomedical Network Research Centre On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid 28029, Spain.; Hereditary Endocrine Cancer Group, Human Cancer Genetics Program, Spanish National Cancer Research Center (CNIO), Melchor Fernández Almagro, 3, Madrid 28029, Spain., Cascón A; Biomedical Network Research Centre On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid 28029, Spain.; Hereditary Endocrine Cancer Group, Human Cancer Genetics Program, Spanish National Cancer Research Center (CNIO), Melchor Fernández Almagro, 3, Madrid 28029, Spain., Ruiz A; Genetics Laboratory, Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Plaça Torre de l'Aigua, s/n, Sabadell 08208, Spain., Spataro N; Genetics Laboratory, Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Plaça Torre de l'Aigua, s/n, Sabadell 08208, Spain., Hernan I; Molecular Genetics Unit, Consorci Sanitari de Terrassa, Ctra. Torrebonica, S/N, Terrassa 08227, Spain., Borràs E; Molecular Genetics Unit, Consorci Sanitari de Terrassa, Ctra. Torrebonica, S/N, Terrassa 08227, Spain., Moles-Fernández A; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Pg. de la Vall d'Hebron, 119, Barcelona 08035, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Pg. de la Vall d'Hebron, 119, Barcelona 08035, Spain., Earl J; Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid, 28029, Spain.; Biomarkers and Personalized Approach to Cancer Group (BioPAC), Ramón y Cajal Health Research Institute (IRYCIS), Ctra. Colmenar Viejo, Km. 9,100, Madrid 28034, Spain., Cadiñanos J; Fundación Centro Médico de Asturias, José María Richard Grandío, s/n, Oviedo, Asturias 33193, Spain., Sánchez-Heras AB; Cancer Genetic Counseling Unit, Medical Oncology Department, Elche General University Hospital, Almazara, 11, Elche 03203, Spain., Bigas A; Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid, 28029, Spain.; Program in Cancer Research, Institut Hospital del Mar d'Investigacions Mèdiques, Dr. Aiguader, 88, Barcelona 08003, Spain.; Josep Carreras Leukemia Research Institute, Ctra de Can Ruti, Camí de les Escoles, s/n, Barcelona 08916, Spain., Capellá G; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge-IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Barcelona 08908, Spain.; Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid, 28029, Spain., Lázaro C; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge-IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Barcelona 08908, Spain.; Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Monforte de Lemos, 3-5, Madrid, 28029, Spain.

Publikováno v: Database : the journal of biological databases and curation [Database (Oxford)] 2024 Jul 04; Vol. 2024.

Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer.

Autor: 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.

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

Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.

Autor: Sánchez-Heras AB; Cancer Genetic Counselling Unit, Medical Oncology Department, Hospital General Universitario de Elche, 03203, Elche, Alicante, Spain. sanchez_ana@gva.es., Dámaso E; Molecular Genetics Laboratory, Hospital General Universitario de Elche, Elche, Alicante, Spain.; Foundation for the Promotion of Health and Biomedical Research of Valencia Region (FISABIO), FISABIO-Elche Health Department, Elche, Spain., Castillejo A; Molecular Genetics Laboratory, Hospital General Universitario de Elche, Elche, Alicante, Spain.; Foundation for the Promotion of Health and Biomedical Research of Valencia Region (FISABIO), FISABIO-Elche Health Department, Elche, Spain., Robledo M; Hereditary Endocrine Cancer, Human Cancer Genetics Programme Spanish National Cancer Centre (CNIO), Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, 28029, Madrid, Spain., Teulé A; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology, L'Hospitalet del Llobregat, Barcelona, Spain., Lázaro C; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology, L'Hospitalet del Llobregat, Barcelona, Spain., Sánchez-Martínez R; Multidisciplinary Rare Disease Unit, Internal Medicine Department, Alicante University General Hospital, Alicante Institute for Health and Biomedical Research (ISABIAL), Alicante, Spain., Zúñiga Á; Clinical Genetics Unit, Hospital Politécnico y Universitario La Fe, Valencia, Spain., López-Fernández A; Hereditary Cancer Genetics Group, VHIO, and Medical Oncology Department, Hospital Vall D'Hebron, Barcelona, Spain., Balmaña J; Hereditary Cancer Genetics Group, VHIO, and Medical Oncology Department, Hospital Vall D'Hebron, Barcelona, Spain., Robles L; Medical Oncology Department. Hospital 12 de Octubre, Madrid, Spain., Ramon Y Cajal T; Familiar Cancer Clinic, Medical Oncology Department, Santa Creu i Sant Pau Hospital, Barcelona, Spain., Castillejo MI; Molecular Genetics Laboratory, Hospital General Universitario de Elche, Elche, Alicante, Spain.; Foundation for the Promotion of Health and Biomedical Research of Valencia Region (FISABIO), FISABIO-Elche Health Department, Elche, Spain., Ibañez RP; Cancer Genetic Counselling Unit, Medical Oncology Department, Hospital General Universitario de Elche, 03203, Elche, Alicante, Spain., Sevila CM; Cancer Genetic Counselling Unit, Medical Oncology Department, Hospital General Universitario de Elche, 03203, Elche, Alicante, Spain., Sánchez-Mira A; Molecular Genetics Laboratory, Hospital General Universitario de Elche, Elche, Alicante, Spain.; Foundation for the Promotion of Health and Biomedical Research of Valencia Region (FISABIO), FISABIO-Elche Health Department, Elche, Spain., Escandell I; Servicio de Dermatología, Hospital General Universitario de Elda, Elda, Alicante, Spain., Gómez L; Urology Department, Hospital General Universitario de Elche, Elche, Alicante, Spain., Berbel P; Departamento de Histología y Anatomía, Facultad de Medicina, Universidad Miguel Hernández, Sant Joan d'Alacant, Alicante, Spain., Soto JL; Molecular Genetics Laboratory, Hospital General Universitario de Elche, Elche, Alicante, Spain.; Foundation for the Promotion of Health and Biomedical Research of Valencia Region (FISABIO), FISABIO-Elche Health Department, Elche, Spain.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 26; Vol. 19 (1), pp. 26. Date of Electronic Publication: 2024 Jan 26.