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96 results for Balmaña,+Judith

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Select record 21
ArticlesPeer ReviewedFull Text
Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants
Author / Creator:Lambertini, Matteo ; Ceppi, Marcello ; Hamy, Anne-Sophie ; Caron, Olivier ; Poorvu, Philip D. ; Carrasco, Estela ; Grinshpun, Albert ; Punie, Kevin ; Rousset-Jablonski, Christine ; Ferrari, Alberta ; Paluch-Shimon, Shani ; Toss, Angela ; Senechal, Claire ; Puglisi, Fabio ; Pogoda, Katarzyna ; Pérez-Fidalgo, Jose Alejandro ; De Marchis, Laura ; Ponzone, Riccardo ; Livraghi, Luca ; Estevez-Diz, Maria Del Pilar ; Villarreal-Garza, Cynthia ; Dieci, Maria Vittoria ; Clatot, Florian ; Duhoux, Francois P. ; Graffeo, Rossella ; Teixeira, Luis ; Córdoba, Octavi ; Sonnenblick, Amir ; Ferreira, Arlindo R. ; Partridge, Ann H. ; Di Meglio, Antonio ; Saule, Claire ; Peccatori, Fedro A. ; Bruzzone, Marco ; t’Kint de Roodenbeke, Marie Daphne ; Ameye, Lieveke ; Balmaña, Judith ; Del Mastro, Lucia ; Azim, Hatem A.
Publisher:London: Nature Publishing Group UK
Journal title:NPJ breast cancer, 2021-02, Vol.7 (1), p.16-16, Article 16
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Clinical consequences of BRCA2 hypomorphism
Author / Creator:Castells-Roca, Laia ; Gutiérrez-Enríquez, Sara ; Bonache, Sandra ; Bogliolo, Massimo ; Carrasco, Estela ; Aza-Carmona, Miriam ; Montalban, Gemma ; Muñoz-Subirana, Núria ; Pujol, Roser ; Cruz, Cristina ; Llop-Guevara, Alba ; Ramírez, María J. ; Saura, Cristina ; Lasa, Adriana ; Serra, Violeta ; Diez, Orland ; Balmaña, Judith ; Surrallés, Jordi
Publisher:London: Nature Publishing Group UK
Journal title:NPJ breast cancer, 2021-09, Vol.7 (1), p.117-117, Article 117
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Development and Validation of a Colon Cancer Risk Assessment Tool for Patients Undergoing Colonoscopy
Author / Creator:Kastrinos, Fay ; Allen, John I ; Stockwell, David H ; Stoffel, Elena M ; Cook, Earl F ; Mutinga, Muthoka L ; Balmaña, Judith ; Syngal, Sapna
Publisher:Basingstoke: Nature Publishing Group
Journal title:The American journal of gastroenterology, 2009-06, Vol.104 (6), p.1508-1518
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Prediction models in Lynch syndrome
Author / Creator:Kastrinos, Fay ; Balmaña, Judith ; Syngal, Sapna
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2013-06, Vol.12 (2), p.217-228
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Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study
Author / Creator:Turner, Nicholas C. ; Laird, A. Douglas ; Telli, Melinda L. ; Rugo, Hope S. ; Mailliez, Audrey ; Ettl, Johannes ; Grischke, Eva-Maria ; Mina, Lida A. ; Balmaña, Judith ; Fasching, Peter A. ; Hurvitz, Sara A. ; Hopkins, Julia F. ; Albacker, Lee A. ; Chelliserry, Jijumon ; Chen, Ying ; Conte, Umberto ; Wardley, Andrew M. ; Robson, Mark E.
Publisher:London: Nature Publishing Group UK
Journal title:NPJ breast cancer, 2023-10, Vol.9 (1), p.81-81, Article 81
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Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer
Author / Creator:Campos, Berta ; Balmaña, Judith ; Gardenyes, Josep ; Valenzuela, Irene ; Abad, Oscar ; Fàbregas, Pere ; Volpini, Víctor ; Díez, Orland
Publisher:Boston: Springer US
Journal title:Breast cancer research and treatment, 2013-06, Vol.139 (2), p.597-602
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Reply to Kratz et al
Author / Creator:Frebourg, Thierry ; Lagercrantz, Svetlana Bajalica ; Oliveira, Carla ; Magenheim, Rita ; Evans, D. Gareth ; Hoogerbrugge, Nicoline ; Ligtenberg, Marjolijn ; Oostenbrink, Rianne ; Sijmons, Rolf ; Woodward, Emma ; Tischkowitz, Marc ; Maher, Eamonn ; Ferner, Rosalie E. ; Aretz, Stefan ; Spier, Isabel ; Steinke-Lange, Verena ; Holinski-Feder, Elke ; Schröck, Evelin ; Frebourg, Thierry ; Houdayer, Claude ; Colas, Chrystelle ; Wolkenstein, Pierre ; Bours, Vincent ; Legius, Eric ; Poppe, Bruce ; Claes, Kathleen ; de Putter, Robin ; Guillermo, Ignacio Blanco ; Capella, Gabriel ; Vidal, Joan Brunet ; Lázaro, Conxi ; Balmaña, Judith ; Hernandez, Hector Salvador ; Teixeira, Manuel ; Tham, Emma ; Jan, Lubinski ; Ertmanska, Karolina ; Melegh, Bela ; Krajc, Mateja ; Blatnik, Ana ; Peltonen, Sirkku ; Hietala, Marja
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-11, Vol.28 (11), p.1483-1485
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Select record 28
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Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization
Author / Creator:Sánchez-Heras, A. Beatriz ; Castillejo, Adela ; García-Díaz, Juan D. ; Robledo, Mercedes ; Teulé, Alexandre ; Sánchez, Rosario ; Zúñiga, Ángel ; Lastra, Enrique ; Durán, Mercedes ; Llort, Gemma ; Yagüe, Carmen ; Ramon y Cajal, Teresa ; López San Martin, Consol ; López-Fernández, Adrià ; Balmaña, Judith ; Robles, Luis ; Mesa-Latorre, José M. ; Chirivella, Isabel ; Fonfria, María ; Perea Ibañez, Raquel ; Castillejo, M. Isabel ; Escandell, Inés ; Gomez, Luis ; Berbel, Pere ; Soto, Jose Luis
Publisher:MDPI AG
Journal title:Cancers, 2020-11, Vol.12 (11), p.3277
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Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes
Author / Creator:Vos, Janet R. ; Giepmans, Lisette ; Röhl, Claas ; Geverink, Nicoline ; Hoogerbrugge, Nicoline
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2019-04, Vol.18 (2), p.281-284
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Select record 30
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Attitudes Toward Prenatal Genetic Testing in Patients With Familial Adenomatous Polyposis
Author / Creator:Kastrinos, Fay ; Stoffel, Elena M ; Balmaña, Judith ; Syngal, Sapna
Publisher:Oxford: Blackwell Publishing
Journal title:The American journal of gastroenterology, 2007-06, Vol.102 (6), p.1284-1290
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Select record 31
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Mutation analysis of the SHFM1 gene in breast/ovarian cancer families
Author / Creator:Bonache, Sandra ; de la Hoya, Miguel ; Gutierrez-Enriquez, Sara ; Tenés, Anna ; Masas, Miriam ; Balmaña, Judith ; Diez, Orland
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of cancer research and clinical oncology, 2013-03, Vol.139 (3), p.529-532
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Select record 32
ArticlesPeer ReviewedFull Text
novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer
Author / Creator:Diez, Orland ; Gutiérrez-Enríquez, Sara ; Mediano, Carmen ; Masas, Miriam ; Saura, Cristina ; Gadea, Neus ; Balmaña, Judith
Publisher:Boston: Boston : Springer US
Journal title:Breast cancer research and treatment, 2010-05, Vol.121 (1), p.221-225
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Select record 33
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Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
Author / Creator:Milne, Roger L ; Osorio, Ana ; Ramón y Cajal, Teresa ; Baiget, Montserrat ; Lasa, Adriana ; Diaz-Rubio, Eduardo ; de la Hoya, Miguel ; Caldés, Trinidad ; Teulé, Alex ; Lázaro, Conxi ; Blanco, Ignacio ; Balmaña, Judith ; Sánchez-Ollé, Gessamí ; Vega, Ana ; Blanco, Ana ; Chirivella, Isabel ; Esteban Cardeñosa, Eva ; Durán, Mercedes ; Velasco, Eladio ; Martínez de Dueñas, Eduardo ; Tejada, María-Isabel ; Miramar, María-Dolores ; Calvo, María-Teresa ; Guillén-Ponce, Carmen ; Salazar, Raquel ; San Román, Carlos ; Urioste, Miguel ; Benítez, Javier
Publisher:Boston: Boston : Springer US
Journal title:Breast cancer research and treatment, 2010, Vol.119 (1), p.221-232
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Select record 34
ArticlesPeer ReviewedFull Text
Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing
Author / Creator:Diez, Orland ; Gutiérrez-Enríquez, Sara ; Balmaña, Judith
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2010-06, Vol.9 (2), p.187-191
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Select record 35
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Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Author / Creator:Tischkowitz, Marc ; Balmaña, Judith ; Foulkes, William D. ; James, Paul ; Ngeow, Joanne ; Schmutzler, Rita ; Voian, Nicoleta ; Wick, Myra J. ; Stewart, Douglas R. ; Pal, Tuya
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-08, Vol.23 (8), p.1416-1423
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Select record 36
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variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts
Author / Creator:Gutiérrez-Enríquez, Sara ; Coderch, Verònica ; Masas, Miriam ; Balmaña, Judith ; Diez, Orland
Publisher:Boston: Boston : Springer US
Journal title:Breast cancer research and treatment, 2009-09, Vol.117 (2), p.461-465
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Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations?
Author / Creator:Gutiérrez-Enríquez, Sara ; Balmaña, Judith ; Baiget, Montserrat ; Díez, Orland
Publisher:Boston: Springer US
Journal title:Breast cancer research and treatment, 2008-02, Vol.107 (3), p.455-457
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Select record 38
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BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance
Author / Creator:Wang, Yifan ; Bernhardy, Andrea J. ; Nacson, Joseph ; Krais, John J. ; Tan, Yin-Fei ; Nicolas, Emmanuelle ; Radke, Marc R. ; Handorf, Elizabeth ; Llop-Guevara, Alba ; Balmaña, Judith ; Swisher, Elizabeth M. ; Serra, Violeta ; Peri, Suraj ; Johnson, Neil
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-12, Vol.10 (1), p.5661-12, Article 5661
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Select record 39
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Role of POLE and POLD1 in familial cancer
Author / Creator:Mur, Pilar ; García-Mulero, Sandra ; del Valle, Jesús ; Magraner-Pardo, Lorena ; Vidal, August ; Pineda, Marta ; Cinnirella, Giacomo ; Martín-Ramos, Edgar ; Pons, Tirso ; López-Doriga, Adriana ; Belhadj, Sami ; Feliubadaló, Lidia ; Munoz-Torres, Pau M. ; Navarro, Matilde ; Grau, Elia ; Darder, Esther ; Llort, Gemma ; Sanz, Judit ; Ramón y Cajal, Teresa ; Balmana, Judith ; Brunet, Joan ; Moreno, Victor ; Piulats, Josep M. ; Matías-Guiu, Xavier ; Sanz-Pamplona, Rebeca ; Aligué, Rosa ; Capellá, Gabriel ; Lázaro, Conxi ; Valle, Laura
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-12, Vol.22 (12), p.2089-2100
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BRCA1185delAG tumors may acquire therapy resistance through expression of RING-less BRCA1
Author / Creator:Drost, Rinske ; Dhillon, Kiranjit K ; van der Gulden, Hanneke ; van der Heijden, Ingrid ; Brandsma, Inger ; Cruz, Cristina ; Chondronasiou, Dafni ; Castroviejo-Bermejo, Marta ; Boon, Ute ; Schut, Eva ; van der Burg, Eline ; Wientjens, Ellen ; Pieterse, Mark ; Klijn, Christiaan ; Klarenbeek, Sjoerd ; Loayza-Puch, Fabricio ; Elkon, Ran ; van Deemter, Liesbeth ; Rottenberg, Sven ; van de Ven, Marieke ; Dekkers, Dick H W ; Demmers, Jeroen A A ; van Gent, Dik C ; Agami, Reuven ; Balmaña, Judith ; Serra, Violeta ; Taniguchi, Toshiyasu ; Bouwman, Peter ; Jonkers, Jos
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2016-08, Vol.126 (8), p.2903-2918
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Showing 21 to 40 of 96 results

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Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants

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Clinical consequences of BRCA2 hypomorphism

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Development and Validation of a Colon Cancer Risk Assessment Tool for Patients Undergoing Colonoscopy

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Prediction models in Lynch syndrome

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Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study

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Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer

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Reply to Kratz et al

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Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

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Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

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Attitudes Toward Prenatal Genetic Testing in Patients With Familial Adenomatous Polyposis

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Mutation analysis of the SHFM1 gene in breast/ovarian cancer families

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novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer

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Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

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Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing

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Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

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variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts

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Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations?

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BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance

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Role of POLE and POLD1 in familial cancer

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BRCA1185delAG tumors may acquire therapy resistance through expression of RING-less BRCA1

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