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Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations Climent-Canto, Paula; Subirana-Granes, Marc; Ramos-Rodriguez, Mireia; Damaso, Estela; Marin, Fatima; Vara, Covadonga; Perez-Gonzalez, Beatriz; Raurell, Helena; Munte, Elisabet; Soto, Jose Luis; Alonso, Angel; Shin, Giwon; Ji, Hanlee; Hitchins, Megan; Capella, Gabriel; Pasquali, Lorenzo; Pineda, Marta Share Save
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.; Capella, Gabriel; Latchford, Andrew; Tavtigian, Sean, V; Maj, Carlo; Plon, Sharon E.; Greenblatt, Marc S.; Macrae, Finlay A.; Spier, Isabel; Aretz, Stefan Share Save
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Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data Munte, Elisabet; Feliubadalo, Lidia; Del Valle, Jesus; Gonzalez, Sara; Ramos-Muntada, Mireia; Balmana, Judith; Ramon y Caja, Teresa; Tuset, Noemi; Llort, Gemma; Cadinanos, Juan; Brunet, Joan; Capella, Gabriel; Lazaro, Conxi; Pineda, Marta Share Save
SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population Moreno-Cabrera, Jose M.; Feliubadalo, Lidia; Pineda, Marta; Prada-Dacasa, Patricia; Ramos-Muntada, Mireia; Del Valle, Jesus; Brunet, Joan; Gel, Bernat; Curras-Freixes, Maria; Calsina, Bruna; Salazar-Hidalgo, Milton E.; Rodriguez-Balada, Marta; Roig, Barbara; Fernandez-Castillejo, Sara; Duran Dominguez, Mercedes; Arranz Ledo, Monica; Infante Sanz, Mar; Castillejo, Adela; Damaso, Estela; Soto, Jose L.; de Miguel, Montserrat; Hidalgo Calero, Beatriz; Sanchez-Zapardiel, Jose M.; Ramon Y Ramon, Teresa; Lasa, Adriana; Gisbert-Beamud, Alexandra; Lopez-Novo, Anael; Ruiz-Ponte, Clara; Potrony, Miriam; Alvarez-Mora, Maria, I; Osorio, Ana; Lorda-Sanchez, Isabel; Robledo, Mercedes; Cascon, Alberto; Ruiz, Anna; Spataro, Nino; Hernan, Imma; Borras, Emma; Moles-Fernandez, Alejandro; Earl, Julie; Cadinanos, Juan; Sanchez-Heras, Ana B.; Bigas, Anna; Capella, Gabriel; Lazaro, Conxi Share Save
Germline NPAT inactivating variants as cause of hereditary colorectal cancer Terradas, Mariona; Schubert, Stephanie A.; Viana-Errasti, Julen; Ruano, Dina; Aiza, Gemma; Nielsen, Maartje; Marciel, Paula; Tops, Carli M.; Parra, Genis; Morreau, Hans; Torrents, David; van Leerdam, Monique E.; Capella, Gabriel; de Miranda, Noel F. C. C.; Valle, Laura; van Wezel, Tom Share Save
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency Marin, Fatima; Canet-Hermida, Julia; Bianchi, Vanessa; Chung, Jiil; Wimmer, Katharina; Foulkes, William; Perez-Alonso, Vanesa; Dominguez-Pinilla, Nerea; Sabado, Constantino; Vazquez-Gomez, Felisa; Molines, Antonio; Fioravantti, Victoria; Carrasco, Estela; Stengs, Lucie; Edwards, Melissa; Negm, Logine; Das, Anirban; Aronson, Melyssa; Pastor, Angela; Rueda, Daniel; Gonzalez-Granado, Luis Ignacio; Tabori, Uri; Capella, Gabriel; Pineda, Marta Share Save
Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome Gonzalez-Abuin, Noemi; Pons, Tirso; Fuster, Teresa; Quintana, Isabel; Terradas, Mariona; Aiza, Gemma; Brunet, Joan; Capella, Gabriel; Hampel, Heather; Valle, Laura Share Save
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, Stephanie; Martins, Alexandra; Borras, Ester; Tops, Carli; Webb, Erica; Beshay, Victoria; Genuardi, Maurizio; Pesaran, Tina; Capella, Gabriel; Tavtigian, Sean, V; Latchford, Andrew; Frayling, Ian M.; Plon, Sharon E.; Greenblatt, Marc; Macrae, Finlay A.; Aretz, Stefan Share Save
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1 Mur, Pilar; Viana-Errasti, Julen; Garcia-Mulero, Sandra; Magraner-Pardo, Lorena; Munoz, Ines G.; Pons, Tirso; Capella, Gabriel; Pineda, Marta; Feliubadalo, Lidia; Valle, Laura Share Save
Survival outcomes in phase I trial combining VCN-01 and durvalumab (MEDI4736) in subjects with recurrent/ metastatic head and neck squamous cell carcinoma refractory to previous immunotherapy treatment Jove, M.; Brana, I.; Oliva Bernal, M.; Hernando Calvo, A.; Erasun Lecuona, C.; Assaf Pastrana, J. D.; Mato-Berciano, A.; V. Maliandi, M.; Torres-Manjon, S.; Moreno, R.; Le, C.; G. Nuciforo, P.; Alemany, R.; Capella, G.; Blasco, C.; Cascallo Piqueras, M.; Mesia Nin, R. Share Save
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Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger Hitchins, Megan P.; Damaso, Estela; Alvarez, Rocio; Zhou, Lisa; Hu, Yajing; Diniz, Marcio A.; Pineda, Marta; Capella, Gabriel; Pearlman, Rachel; Hampel, Heather Share Save
Highly Sensitive Microsatellite Instability and Immunohistochemistry Assessment in Endometrial Aspirates as a Tool for Cancer Risk Individualization in Lynch Syndrome Canet-Hermida, Julia; Marin, Fatima; Dorca, Eduard; Duenas, Nuria; Costas, Laura; Salinas, Monica; Velasco, Angela; Peremiquel-Trillas, Paula; Paytubi, Sonia; Ponce, Jordi; Fernandez, Sergi; Manuel Martinez, Jose; Cardenas, Laura; Taltavull, Anna; Alemany, Laia; Melendez, Cristina; Oliveras, Gloria; Vidal, August; Capella, Gabriel; Lopez-Bonet, Eugeni; Brunet, Joan; Matias-Guiu, Xavier; Pineda, Marta Share Save
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome Duenas, Nuria; Klinkhammer, Hannah; Bonifaci, Nuria; Spier, Isabel; Mayr, Andreas; Hassanin, Emadeldin; Diez-Villanueva, Anna; Moreno, Victor; Pineda, Marta; Maj, Carlo; Capella, Gabriel; Aretz, Stefan; Brunet, Joan Share Save
Wnt genes in colonic polyposis predisposition Quintana, Isabel; Terradas, Mariona; Mur, Pilar; te Paske, Iris B. A. W.; Peters, Sophia; Spier, Isabel; Steinke-Lange, Verena; Maestro, Claudia; Torrents, David; Puiggros, Montserrat; Royo, Romina; Tonda, Raul; Parra, Genis; Piscia, Davide; Beltran, Sergi; Navarro, Matilde; Pinol, Virginia; Brunet, Joan; Gonzalez-Abuin, Noemi; Aiza, Gemma; Sommer, Anna; van Herwaarden, Yasmijn; Astuti, Galuh; Holinski-Feder, Elke; Hoogerbrugge, Nicoline; de Voer, Richarda M.; Aretz, Stefan; Capella, Gabriel; Valle, Laura Share Save
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