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1دورية أكاديمية
المؤلفون: Sandrine M. Caputo, Dominique Telly, Adrien Briaux, Julie Sesen, Maurizio Ceppi, Françoise Bonnet, Violaine Bourdon, Florence Coulet, Laurent Castera, Capucine Delnatte, Agnès Hardouin, Sylvie Mazoyer, Inès Schultz, Nicolas Sevenet, Nancy Uhrhammer, Céline Bonnet, Anne-Françoise Tilkin-Mariamé, Claude Houdayer, Virginie Moncoutier, Catherine Andrieu, French COVAR Group Collaborators, Ivan Bièche, Marc-Henri Stern, Dominique Stoppa-Lyonnet, Rosette Lidereau, Christine Toulas, Etienne Rouleau
المصدر: Cancers, Vol 13, Iss 13, p 3171 (2021)
مصطلحات موضوعية: large genomic rearrangement, BRCA1 gene, large duplication, triplication, variant of unknown significance, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Gisella Figlioli, Anders Kvist, Emma Tham, Jana Soukupova, Petra Kleiblova, Taru A Muranen, Nadine Andrieu, Jacopo Azzollini, Judith Balmaña, Alicia Barroso, Javier Benítez, Birgitte Bertelsen, Ana Blanco, Bernardo Bonanni, Åke Borg, Joan Brunet, Daniele Calistri, Mariarosaria Calvello, Stepan Chvojka, Laura Cortesi, Esther Darder, Jesús Del Valle, Orland Diez, ENIGMA Consortium, Séverine Eon-Marchais, Florentia Fostira, GENESIS Study Collaborators, Francesca Gensini, Claude Houdayer, Marketa Janatova, Johanna I Kiiski, Irene Konstantopoulou, Katerina Kubelka-Sabit, Conxi Lázaro, Fabienne Lesueur, Siranoush Manoukian, Ruta Marcinkute, Ugnius Mickys, Virginie Moncoutier, SWE-BRCA Group, Aleksander Myszka, Tu Nguyen-Dumont, Finn Cilius Nielsen, Rimvydas Norvilas, Edith Olah, Ana Osorio, Laura Papi, Bernard Peissel, Ana Peixoto, Dijana Plaseska-Karanfilska, Timea Pócza, Maria Rossing, Vilius Rudaitis, Marta Santamariña, Catarina Santos, Snezhana Smichkoska, Melissa C Southey, Dominique Stoppa-Lyonnet, Manuel Teixeira, Therese Törngren, Angela Toss, Miguel Urioste, Ana Vega, Zdenka Vlckova, Drakoulis Yannoukakos, Valentina Zampiga, Zdenek Kleibl, Paolo Radice, Heli Nevanlinna, Hans Ehrencrona, Ramunas Janavicius, Paolo Peterlongo
المصدر: Cancers, Vol 12, Iss 2, p 292 (2020)
مصطلحات موضوعية: breast cancer predisposition, breast cancer risk factors, fancm truncating variants, mutation spectrum, ptvs, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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3
المؤلفون: Etienne Rouleau, Agnès Hardouin, Claude Houdayer, Maurizio Ceppi, Florence Coulet, Christine Toulas, Laurent Castera, Violaine Bourdon, Dominique Stoppa-Lyonnet, Inès Schultz, Virginie Moncoutier, Anne-Françoise Tilkin-Mariamé, Sandrine M. Caputo, Ivan Bièche, Céline Bonnet, Julie Sesen, Françoise Bonnet, Dominique Telly, Adrien Briaux, Capucine Delnatte, Catherine Andrieu, Rosette Lidereau, Nicolas Sevenet, Sylvie Mazoyer, Nancy Uhrhammer, Marc-Henri Stern
المصدر: Cancers
Volume 13
Issue 13
Cancers, Vol 13, Iss 3171, p 3171 (2021)مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Biology, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, Gene duplication, large duplication, Gene, RC254-282, Segmental duplication, Genetics, Sanger sequencing, Breakpoint, large genomic rearrangement, Intron, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, variant of unknown significance, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, symbols, BRCA1 gene, triplication, Comparative genomic hybridization
وصف الملف: application/pdf
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4
المؤلفون: Johanna I. Kiiski, Miguel Urioste, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Ana Vega, Irene Konstantopoulou, Ana Blanco, Jesús del Valle, Joan Brunet, Emma Tham, Daniele Calistri, Esther Darder, Taru A. Muranen, Maria Rossing, Åke Borg, Aleksander Myszka, Marketa Janatova, Drakoulis Yannoukakos, Laura Papi, Paolo Peterlongo, Bernardo Bonanni, Florentia Fostira, Catarina Santos, Séverine Eon-Marchais, Anders Kvist, Petra Kleiblova, Snezhana Smichkoska, Manuel R. Teixeira, Vilius Rudaitis, Dijana Plaseska-Karanfilska, Conxi Lázaro, Alicia Barroso, Ugnius Mickys, Mariarosaria Calvello, Edith Olah, Virginie Moncoutier, Zdenek Kleibl, Nadine Andrieu, Rimvydas Norvilas, Stepan Chvojka, Paolo Radice, Jana Soukupova, Birgitte Bertelsen, Siranoush Manoukian, Claude Houdayer, Marta Santamariña, Bernard Peissel, Zdenka Vlckova, Ana Osorio, Laura Cortesi, Jacopo Azzollini, Katerina Kubelka-Sabit, Fabienne Lesueur, Valentina Zampiga, Tu Nguyen-Dumont, Javier Benitez, Gisella Figlioli, Hans Ehrencrona, Orland Diez, Therese Törngren, Judith Balmaña, Francesca Gensini, Ruta Marcinkute, Timea Pocza, Angela Toss, Dominique Stoppa-Lyonnet, Ana Peixoto, Heli Nevanlinna
المساهمون: Institut Català de la Salut, [Figlioli G] Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan, Italy. [Kvist A] Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden. [Tham E] Department of Clinical Genetics, Karolinska University Hospital and Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. [Soukupova J] Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic. [Kleiblova P] Institute of Biology and Medical Genetics, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic. [Muranen TA] Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, HUS, Helsinki, Finland. [Balmaña J] Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Diez O] Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Italian Association for Cancer Research, Fondazione Umberto Veronesi, Ministero della Salute (Italia), Region Stockholm (ALF), Ministry of Health (República Checa), Unión Europea. Comisión Europea, Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red - CIBERER (Enfermedades Raras), French National Institute of Cancer (INCa grant), National Health and Medical Research Council (Australia), Hungarian Research Grants, Lietuvos Mokslo Taryba (Lituania), Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Associazione Italiana per la Ricerca sul Cancro (AIRC), Ministry of Health, Italy, Ministry of Health, Czech Republic, European Commission, Instituto de Salud Carlos III - ISCIII, Spanish Network on Rare Diseases (CIBERER), National Health and Medical Research Council of Australia, Research Council of Lithuania (LMTLT), European Regional Development Fund (ERDF/FEDER), HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Helsinki University Hospital Area, University of Helsinki, INDIVIDRUG - Individualized Drug Therapy, Clinicum
المصدر: Scientia
Cancers, Basel : MDPI AG, 2020, vol. 12, no. 2, art. no. 292, p. [1-14]
Dipòsit Digital de la UB
Universidad de Barcelona
Repisalud
Instituto de Salud Carlos III (ISCIII)
Cancers, Vol 12, Iss 2, p 292 (2020)
Cancers
Figlioli, G, Kvist, A, Tham, E, Soukupova, J, Kleiblova, P, Muranen, T A, Andrieu, N, Azzollini, J, Balmaña, J, Barroso, A, Benítez, J, Bertelsen, B, Blanco, A, Bonanni, B, Borg, Å, Brunet, J, Calistri, D, Calvello, M, Chvojka, S, Cortesi, L, Darder, E, Del Valle, J, Diez, O, Eon-Marchais, S, Fostira, F, Gensini, F, Houdayer, C, Janatova, M, Kiiski, J I, Konstantopoulou, I, Kubelka-Sabit, K, Lázaro, C, Lesueur, F, Manoukian, S, Marcinkute, R, Mickys, U, Moncoutier, V, Myszka, A, Nguyen-Dumont, T, Nielsen, F C, Norvilas, R, Olah, E, Osorio, A, Papi, L, Peissel, B, Peixoto, A, Plaseska-Karanfilska, D, Pócza, T, Rossing, M, Rudaitis, V & ENIGMA Consortium 2020, ' The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases ', Cancers, vol. 12, no. 2, 292 . https://doi.org/10.3390/cancers12020292
Volume 12
Issue 2مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, Breast cancer risk factors, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], ptvs, Càncer - Aspectes genètics, Basic medicine, Breast cancer, 0302 clinical medicine, Mama - Càncer, hemic and lymphatic diseases, FANCM, Breast cancer predisposition, FANCM truncating variants, Mutation spectrum, PTVs, RISK, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], Factors de risc en les malalties, Otros calificadores::Otros calificadores::/genética [Otros calificadores], FANCM GENE, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, 3. Good health, 030220 oncology & carcinogenesis, Gene sequence, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Risk factors in diseases, 3122 Cancers, lcsh:RC254-282, fancm truncating variants, Càncer de mama, breast cancer predisposition, breast cancer risk factors, mutation spectrum, 03 medical and health sciences, Internal medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, ANEMIA, Allele frequency, Female breast cancer, MUTATIONS, business.industry, nutritional and metabolic diseases, BRCA1, medicine.disease, GENE, 030104 developmental biology, Clinical medicine, C.5791C-GREATER-THAN-T, FANCM Protein, business
وصف الملف: application/pdf; text