Browsing by Author Pineda, Marta
Showing results 1 to 16 of 16
| Issue Date | Title | Author(s) |
|---|---|---|
| 1-Jan-2024 | A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis | Porras, Luz Marina; Padilla, Natàlia; Moles Fernández, Alejandro; Feliubadaló, Lidia; Santamariña Pena, Marta; Sánchez, Alysson T.; López Novo, Anael; Blanco, Ana; De La Hoya, Miguel; Molina, Ignacio J.; Osorio, Ana; Pineda, Marta; Rueda, Daniel; Ruiz Ponte, Clara; Vega, Ana; Lázaro García, Conxi; Díez, Orland; Gutiérrez Enríquez, Sara; De La Cruz, Xavier |
| 20-Nov-2022 | A Simple Cervicovaginal Epigenetic Test for Screening and Rapid Triage of Women With Suspected Endometrial Cancer: Validation in Several Cohort and Case/Control Sets | Herzog, Chiara; Marín, Fátima; Jones, Allison; Evans, Iona; Reisel, Daniel; Redl, Elisa; Schreiberhuber, Lena; Paytubi Casabona, Sònia; Pelegrina, Beatriz; Carmona, Álvaro; Peremiquel Trillas, Paula; Frias Gomez, Jon; Pineda, Marta; Brunet, Joan; Ponce, Jordi; Matias-Guiu, Xavier; Sanjosé, Silvia de; Alemany, Laia; Olaitan, Adeola; Wong, Michael; Jurkovic, Davor; Crosbie, Emma J.; Rosenthal, Adam N.; Bjørge, Line; Zikan, Michal; Dostalek, Lukas; Cibula, David; Sundström, Karin; Dillner, Joakim; Costas, Laura; Widschwendter, Martin |
| 24-Oct-2023 | Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome | Dueñas, Nuria; Klinkhammer, Hannah; Bonifaci Cano, Núria; Spier, Isabel; Mayr, Andreas; Hassanin, Emadeldin; Díez Villanueva, Anna; Moreno Aguado, Víctor; Pineda, Marta; Maj, Carlo; Capellà, Gabriel; Aretz, Stefan; Brunet, Joan |
| 29-Jun-2022 | An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study | Peremiquel Trillas, Paula; Paytubi Casabona, Sònia; Pelegrina, Beatriz; Frias Gomez, Jon; Carmona, Álvaro; Martínez Delgado, José Manuel; Francisco, Javier de; Benavente, Yolanda; Barahona, Marc; Briansó, Ferran; Canet Hermida, Júlia; Caño, Víctor; Vidal, Augusto, 1909-1976; Zanca, Alba; Baixeras, Núria; Rodríguez, Axel; Fernández Gonzalez, Sergi; Dueñas, Nuria; Càrdenas, Laura; Aytés Meneses, Álvaro; Bianchi, Ilaria; Pavón Ribas, Miquel Àngel; Reventós, Jaume; Capellá, G. (Gabriel); Gómez, David, 1968-; Diaz, Mireia; Ponce, Jordi; Brunet, Joan; Matias-Guiu, Xavier; Bosch Font, Francesc; Sanjosé, Silvia de; Alemany, Laia; Pineda, Marta; Marin, Fátima; Costas, Laura |
| 1-Oct-2022 | Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium | Møller, Pål; Seppälä, Toni T.; Dowty, James G.; Haupt, Saskia; Dominguez Valentin, Mev; Sunde, Lone; Bernstein, Inge; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capellá, G. (Gabriel); Nakken, Sigve; Kalfayan, Pablo; Burn, John; Büttner, Reinhard; Brunet, Joan; Green, Kate; Sheth, Harsh; Rossi, Benedito Mauro; Stakelum, Aine; Portenkirchner, Carmen; Nascimento, Ivana; Lalloo, Fiona; Newton, Katie; Torrezan, Giovana Tardin; Martin, Claudia; Kloor, Matthias; The European Hereditary Tumour Group (ehtg) And The International Mismatch Repair Consortium (imrc); Bertario, Lucio; Crosbie, Emma J.; Mints, Miriam; Tjandra, Douglas; Steinke Lange, Verena; Neffa, Florencia; Perne, Claudia; Esperon, Patricia; Winship, Ingrid; Latchford, Andrew; Kariv, Revital; Macrae, Finlay; Guillén Ponce, Carmen; Rosner, Guy; Levi, Zohar; Vaccaro, Carlos Alberto; Tibiletti, Maria Grazia; Pavicic, Walter Hernán; Plazzer, John-Paul; Sijmons, Rolf; Backman, Ann Sofie; De Vargas, Aída Falcón; Vangala, Deepak; Lautrup, Charlotte K.; Laghi, Luigi; Valle, Adriana Della; Carraro, Dirce Maria; Abu Freha, Naim; Winter, Des; Bohorquez, Mabel; Horisberger, Karoline; Heinimann, Karl; Half, Elizabeth; Lopez Köstner, Francisco; Alvarez Valenzuela, Karin; Van Hest, Liselotte P.; Scott, Rodney J.; Thomas, Huw; Ligtenberg, Marjolijn J. L.; Katz, Lior; Da Silva, Leandro Apolinário; Zahary, Mohd N.; Laish, Ido; Rossi, Norma Teresa; Morrison, Patrick J.; Vainer, Elez; Zaránd, Attila; Poplawski, Nicola; Aronson, Melyssa; Kohonen Corish, Maija R. J.; Lee, Grant; Chen Shtoyerman, Rakefet; Mecklin, Jukka Pekka; Pylvänäinen, Kirsi; Schmiegel, Wolff; Hüneburg, Robert; Gerdes, Anne Marie; Snyder, Carrie; Renkonen Sinisalo, Laura; Lepisto, Anna; Peltomäki, Päivi; Therkildsen, Christina; Heuveline, Vincent; Lindberg, Lars Joachim; Lindor, Noralane; Thorlacius Ussing, Ole; Stoffel, Elena; Newcomb, Polly A.; Von Knebel Doeberitz, Magnus; Palmero, Edenir; Thibodeau, Stephen N.; Loeffler, Markus; Amor, David; Senter, Leigha; Hoogerbrugge, Nicoline; Rahner, Nils; Duijkers, Floor; Hall, Michael J.; Buchanan, Daniel D.; Le Marchand, Loïc; Win, Aung Ko; Hovig, Eivind; Hampel, Heather; Williams, Heinric; Rasmussen, Lene J.; Ricciardiello, Luigi; Southey, Melissa; Samadder, N. Jewel; James, Paul; Okkels, Henrik; Lubiński, Jan; Reece, Jeanette; Ngeow, Joanne; Bassaneze, Thiago; Guillem, Jose G.; Ward, Robyn; Ahadova, Aysel; Arnold, Julie; Pai, Rish K.; Jenkins, Mark A.; Wadt, Karin; Ankathil, Ravindran; Holinski Feder, Elke; Monahan, Kevin; Parry, Susan; Evans, D. Gareth; Sampson, Julian R.; Moslein, Gabriela; Bonanni, Bernardo; Lindblom, Annika; Dębniak, Tadeusz; John, Thomas; Hopper, John L.; Gallinger, Steven; Figueiredo, Jane; Ten Broeke, Sanne W.; Van Overeem Hansen, Thomas; Caldés, Trinidad; Yamaguchi, Tatsuro; Barca Tierno, Verónica; Gluck, Nathan; Garre, Pilar; Kennelly, Rory; Cavestro, Giulia Martina; Dueñas, Nuria; Greenblatt, Marc; Weitz, Jürgen; Pineda, Marta; Lino Silva, Leonardo S.; Redler, Silke |
| 1-Feb-2024 | Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel | Spier, Isabel; Yin, Xiaoyu; Richardson, Marcy; Pineda, Marta; Laner, Andreas; Ritter, Deborah; Boyle, Julie; Mur, Pilar; Hansen, Thomas V O.; Shi, Xuemei; Mahmood, Khalid; Plazzer, John-Paul; Ognedal, Elisabet; Nordling, Margareta; Farrington, Susan M.; Yamamoto, Gou; Baert-Desurmont, Stéphanie; Martins, Alexandra; Borras, Ester; Tops, Carli; Webb, Erica; Beshay, Victoria; Genuardi, Maurizio; Pesaran, Tina; Capellá, Gabriel; Tavtigian, Sean V.; Latchford, Andrew; Frayling, Ian M.; Plon, Sharon E.; Greenblatt, Marc; Macrae, Finlay A.; Aretz, Stefan |
| 16-Jul-2020 | High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers | González Acosta, María Isabel; Marín, Fátima; Puliafito, Benjamin; Bonifaci Cano, Núria; Fernández, Anna; Navarro, Matilde; Salvador, Hector; Balaguer Prunés, Francesc; Iglesias, Silvia; Velasco, Àngela; Grau Garcés, Èlia; Moreno Aguado, Víctor; González Granado, Luis Ignacio; Guerra García, Pilar; Ayala, Rosa; Florkin, Benoît; Kratz, Christian; Ripperger, Tim; Rosenbaum, Thorsten; Januszkiewicz-Lewandowska, Danuta; Azizi, Amedeo A.; Ragab, Iman; Nathrath, Michaela; Pander, Hans-Jürgen; Lobitz, Stephan; Suerink, Manon; Dahan, Karin; Imschweiler, thomas; Demirsoy, Ugur; Brunet, Joan; Lázaro García, Conxi; Rueda, Daniel; Wimmer, Katharina; Capellá, G. (Gabriel); Pineda, Marta |
| 1-Nov-2024 | Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS | Yin, Xiaoyu; Richardson, Marcy; Laner, Andreas; Shi, Xuemei; Ognedal, Elisabet; Vasta, Valeria; Hansen, Thomas V.o.; Pineda, Marta; Ritter, Deborah; De Dunnen, Johan; Hassanin, Emadeldin; Lin, Wencong Lyman; Borras, Ester; Krahn, Karl; Nordling, Margareta; Martins, Alexandra; Mahmood, Khalid; Nadeau, Emily; Beshay, Victoria; Tops, Carli; Genuardi, Maurizio; Pesaran, Tina; Frayling, Ian M.; Capellá, Gabriel; Latchford, Andrew; Tavtigian, Sean V.; Maj, Carlo; Plon, Sharon E.; Greenblatt, Marc S.; Macrae, Finlay A.; Spier, Isabel; Aretz, Stefan |
| 1-Nov-2022 | Lessons learnt from the implementation of a colorectal cancer screening programme for lynch syndrome in a tertiary public hospital. | Dueñas, Nuria; Navarro, Matilde; Sanjuán, Xavier; Ruiz, Núria; Iglesias, Silvia; Matias-Guiu, Xavier; Guardiola, Jordi; Kreisler, Esther; Biondo, Sebastiano; González, Sara; Legido, Raquel; Blanco, Ana; Navarro, Silvia; Asiain, Leyre; Santos, Cristina; Capellá, G. (Gabriel); Pineda, Marta; Brunet, Joan |
| 1-Nov-2023 | MTHFR C677T and A1298C polymorphism’s effect on risk of colorectal cancer in Lynch syndrome | Wiik, Mariann Unhjem; Negline, Mia; Beisvåg, Vidar; Clapham, Matthew; Holliday, Elizabeth; Dueñas, Nuria; Brunet, Joan; Pineda, Marta; Bonifaci, Nuria; Aretz, Stefan; Klinkhammer, Hannah; Spier, Isabel; Perne, Claudia; Mayr, Andreas; Valle, Laura; Lubinski, Jan; Sjursen, Wenche; Scott, Rodney J.; Talseth-Palmer, Bente A. |
| 28-Jun-2021 | No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study | Dominguez Valentin, Mev; Plazzer, John-Paul; Sampson, Julian R.; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capellá, G. (Gabriel); Balaguer Prunés, Francesc; Macrae, Finlay; Winship, Ingrid M.; Thomas, Huw; Evans, D. Gareth; Burn, John; Greenblatt, Marc; de Vos Tot Nederveen Cappel, Wouter H.; Sijmons, Rolf H.; Nielsen, Maartje; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Valle, Adriana Della; Lopez Kostner, Francisco; Alvarez Valenzuela, Karin; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Nakken, Sigve; Hovig, Eivind; Green, Kate; Lalloo, Fiona; Hill, James; Vasen, Hans; Perne, Claudia; Büttner, Reinhard; Görgens, Heike; Holinski Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Weitz, Jürgen; Steinke Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Crosbie, Emma J.; Pineda, Marta; Navarro, Matilde; Brunet, Joan; Moreira Ruiz, Leticia; Sánchez, Ariadna; Serra Burriel, Miquel; Mints, Miriam; Kariv, Revital; Rosner, Guy; Piñero, Tamara Alejandra; Pavicic, Walter Hernán; Kalfayan, Pablo; ten Broeke, Sanne W.; Mecklin, Jukka-Pekka; Pylvänäinen, Kirsi; Renkonen Sinisalo, Laura; Lepistö, Anna; Peltomäki, Päivi; Hopper, John L.; Ko Win, Aung; Buchanan, Daniel D.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Hansen, Thomas V. O.; Lindberg, Lars; Rødland, Einar Andreas; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Möslein, Gabriela; Seppälä, Toni T.; Møller, Pål |
| 17-Oct-2023 | Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1 | Mur, Pilar; Viana Errasti, Julen; García Mulero, Sandra; Magraner Pardo, Lorena; Muñoz, Inés G.; Pons, Tirso; Capellá, Gabriel; Pineda, Marta; Feliubadaló, Lidia; Valle, Laura |
| 25-Nov-2021 | RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant | Rofes, Paula; Pineda, Marta; Feliubadaló, Lídia; Menéndez, Mireia; Cid, Rafael de; Gómez, Carolina; Montes, Eva; Capellá, G. (Gabriel); Brunet, Joan; Valle, Jesús del; Lázaro García, Conxi |
| 4-Sep-2021 | Sensitivity of cervical cytology in endometrial cancer detection in a tertiary hospital in Spain | Frias Gomez, Jon; Tovar, Eva; Vidal, August; Murgui, Lluis; Ibáñez, Raquel; Peremiquel Trillas, Paula; Paytubi Casabona, Sònia; Baixeras, Nuria; Zanca, Alba; Ponce i Sebastià, Jordi; Pineda, Marta; Brunet, Joan; De Sanjosé, Silvia; Bosch, F. Xavier; Matias-Guiu, Xavier; Alemany, Laia; Costas, Laura; Screenwide Team |
| 3-May-2023 | SEOM clinical guideline on heritable TP53-related cancer syndrome (2022) | Sánchez Heras, Ana Beatriz; Ramon y Cajal, Teresa; Pineda, Marta; Aguirre, Elena; Graña, Begoña; Chirivella, Isabel; Balmaña, Judith; Brunet, Joan; The Seom Hereditary Cancer Working Group And Aegh Hereditary Cancer Committee |
| 1-Jan-2024 | SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population | Moreno Cabrera, José M.; Feliubadaló, Lidia; Pineda, Marta; Prada Dacasa, Patricia; Ramos Muntada, Mireia; Valle, Jesús del; Brunet, Joan; Gel Moreno, Bernat; Currás Freixes, María; Calsina, Bruna; Salazar Hidalgo, Milton E.; Rodríguez Balada, Marta; Roig, Bàrbara; Fernández Castillejo, Sara; Durán Domínguez, Mercedes; Arranz Ledo, Mónica; Infante Sanz, Mar; Castillejo, Adela; Dámaso, Estela; Soto, José L; Miguel, Montserrat de; Hidalgo Calero, Beatriz; Sánchez Zapardiel, José M.; Ramon y Cajal, Teresa; Lasa, Adriana; Gisbert Beamud, Alexandra; López Novo, Anael; Ruiz Ponte, Clara; Potrony Mateu, Míriam; Álvarez Mora, María I.; Osorio, Ana; Lorda Sánchez, Isabel; Robledo, Mercedes; Cascón, Alberto; Ruiz, Anna; Spataro, Nino; Hernan, Imma; Borràs, Emma; Moles Fernández, Alejandro; Earl, Julie; Cadiñanos, Juan; Sánchez Heras, Ana B.; Bigas, Anna; Capellá, Gabriel; Lázaro, Conxi |