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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate
Author / Creator:Rofes, Paula ; Castillo-Manzano, Carmen ; Menéndez, Mireia ; Teulé, Álex ; Iglesias, Sílvia ; Munté, Elisabet ; Ramos-Muntada, Mireia ; Gómez, Carolina ; Tornero, Eva ; Darder, Esther ; Montes, Eva ; Valle, Laura ; Capellá, Gabriel ; Pineda, Marta ; Brunet, Joan ; Feliubadaló, Lidia ; del Valle, Jesús ; Lázaro, Conxi
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2025-01, Vol.17 (1), p.3-17, Article 3
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ArticlesPeer ReviewedFull Text
Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic
Author / Creator:López-Fernández, Adrià ; Villacampa, Guillermo ; Grau, Elia ; Salinas, Mónica ; Darder, Esther ; Carrasco, Estela ; Torres-Esquius, Sara ; Iglesias, Silvia ; Solanes, Ares ; Gadea, Neus ; Velasco, Angela ; Urgell, Gisela ; Torres, Maite ; Tuset, Noemí ; Brunet, Joan ; Corbella, Sergi ; Balmaña, Judith
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-08, Vol.23 (8), p.1450-1457
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ArticlesPeer ReviewedFull Text
Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families
Author / Creator:Fernández-Rodríguez, Juana ; Quiles, Francisco ; Blanco, Ignacio ; Teulé, Alex ; Feliubadaló, Lídia ; Valle, Jesús del ; Salinas, Mónica ; Izquierdo, Àngel ; Darder, Esther ; Schindler, Detlev ; Capellá, Gabriel ; Brunet, Joan ; Lázaro, Conxi ; Pujana, Miguel Angel
Publisher:England: BioMed Central Ltd
Journal title:BMC cancer, 2012-03, Vol.12 (1), p.84-84, Article 84
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ArticlesPeer ReviewedFull Text
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
Author / Creator:Bellido, Fernando ; Pineda, Marta ; Aiza, Gemma ; Valdés-Mas, Rafael ; Navarro, Matilde ; Puente, Diana A. ; Pons, Tirso ; González, Sara ; Iglesias, Silvia ; Darder, Esther ; Piñol, Virginia ; Soto, José Luís ; Valencia, Alfonso ; Blanco, Ignacio ; Urioste, Miguel ; Brunet, Joan ; Lázaro, Conxi ; Capellá, Gabriel ; Puente, Xose S. ; Valle, Laura
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2016-04, Vol.18 (4), p.325-332
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ArticlesPeer ReviewedFull Text
Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis
Author / Creator:Quintana, Isabel ; Mejías-Luque, Raquel ; Terradas, Mariona ; Navarro, Matilde ; Piñol, Virginia ; Mur, Pilar ; Belhadj, Sami ; Grau, Elia ; Darder, Esther ; Solanes, Ares ; Brunet, Joan ; Capellá, Gabriel ; Gerhard, Markus ; Valle, Laura
Publisher:England: BMJ Publishing Group LTD
Journal title:Gut, 2018-12, Vol.67 (12), p.2230-2232
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ArticlesPeer ReviewedFull Text
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)
Author / Creator:Hendricks, Linda A. J. ; Verbeek, Katja C. J. ; Schuurs-Hoeijmakers, Janneke H. M. ; Mensenkamp, Arjen R. ; Brems, Hilde ; de Putter, Robin ; Anastasiadou, Violetta C. ; Villy, Marie-Charlotte ; Jahn, Arne ; Steinke-Lange, Verena ; Baldassarri, Margherita ; Irmejs, Arvids ; de Jong, Mirjam M. ; Links, Thera P. ; Leter, Edward M. ; Bosch, Daniëlle G. M. ; Høberg-Vetti, Hildegunn ; Tveit Haavind, Marianne ; Jørgensen, Kjersti ; Mæhle, Lovise ; Blatnik, Ana ; Brunet, Joan ; Darder, Esther ; Tham, Emma ; Hoogerbrugge, Nicoline ; Vos, Janet R.
Publisher:Switzerland: MDPI AG
Journal title:Cancers, 2024-02, Vol.16 (5), p.953
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ArticlesPeer ReviewedFull Text
Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation
Author / Creator:Dámaso, Estela ; Canet-Hermida, Júlia ; Vargas-Parra, Gardenia ; Velasco, Àngela ; Marín, Fátima ; Darder, Esther ; del Valle, Jesús ; Fernández, Anna ; Izquierdo, Àngel ; Mateu, Gemma ; Oliveras, Glòria ; Escribano, Carmen ; Piñol, Virgínia ; Uchima, Hugo-Ikuo ; Soto, José Luis ; Hitchins, Megan ; Farrés, Ramon ; Lázaro, Conxi ; Queralt, Bernat ; Brunet, Joan ; Capellá, Gabriel ; Pineda, Marta
Publisher:Germany: BioMed Central Ltd
Journal title:Clinical epigenetics, 2019-11, Vol.11 (1), p.171-171, Article 171
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ArticlesPeer ReviewedFull Text
Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes
Author / Creator:del Valle, Jesús ; Feliubadaló, Lídia ; Nadal, Marga ; Teulé, Alex ; Miró, Rosa ; Cuesta, Raquel ; Tornero, Eva ; Menéndez, Mireia ; Darder, Esther ; Brunet, Joan ; Capellà, Gabriel ; Blanco, Ignacio ; Lázaro, Conxi
Publisher:Boston: Boston : Springer US
Journal title:Breast cancer research and treatment, 2010-08, Vol.122 (3), p.733-743
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ArticlesPeer ReviewedFull Text
Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain
Author / Creator:Sanz, Judit ; Ramón y Cajal, Teresa ; Torres, Asunción ; Darder, Esther ; Gadea, Neus ; Velasco, Angela ; Fortuny, Daniel ; López, Consol ; Fisas, David ; Brunet, Joan ; Alonso, M. Carmen ; Balmaña, Judith
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2010-09, Vol.9 (3), p.297-304
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ArticlesPeer ReviewedFull Text
Identification of a new complex rearrangement affecting exon 20 of BRCA1
Author / Creator:del Valle, Jesús ; Campos, Olga ; Velasco, Angela ; Darder, Esther ; Menéndez, Mireia ; Feliubadaló, Lídia ; Tornero, Eva ; Blanco, Ignacio ; Izquierdo, Ángel ; Brunet, Joan ; Capellá, Gabriel ; Lázaro, Conxi
Publisher:Boston: Springer US
Journal title:Breast cancer research and treatment, 2011-11, Vol.130 (1), p.341-344
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ArticlesPeer ReviewedFull Text
Identification and comprehensive characterization of large genomic rearrangements in the and genes
Author / Creator:Valle, Jesús ; Feliubadaló, Lídia ; Nadal, Marga ; Teulé, Alex ; Miró, Rosa ; Cuesta, Raquel ; Tornero, Eva ; Menéndez, Mireia ; Darder, Esther ; Brunet, Joan ; Capellà, Gabriel ; Blanco, Ignacio ; Lázaro, Conxi
Publisher:Springer Verlag
Journal title:Breast cancer research and treatment, 2009-11, Vol.122 (3), p.733-743
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Role of POLE and POLD1 in familial cancer

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TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate

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Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic

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Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families

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POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

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Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis

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Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)

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Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation

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Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes

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Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain

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Identification of a new complex rearrangement affecting exon 20 of BRCA1

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Identification and comprehensive characterization of large genomic rearrangements in the and genes

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