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Acceptability and somatic mutations in cervicovaginal self-sampling for early endometrial cancer detection in women with Lynch syndrome Peremiquel-Trillas, Paula; Martinez, Jose Manuel; Paytubi, Sonia; Frias-Gomez, Jon; Pelegrina, Beatriz; Marin, Fatima; Benavente, Yolanda; Ibanez, Raquel; Barahona, Marc; Fernandez-Gonzalez, Sergi; Cardenas, Laura; Taltavull, Anna; Darder, Esther; de Sanjose, Silvia; Widschwendter, Martin; Matias-Guiu, Xavier; Bosch, Xavier; Pineda, Marta; Ponce, Jordi; Brunet, Joan; Alemany, Laia; Costas, Laura Share Save
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
Detection of germline CNVs from gene panel data: benchmarking the state of the art Munte, Elisabet; Roca, Carla; Del Valle, Jesus; Feliubadalo, Lidia; Pineda, Marta; Gel, Bernat; Castellanos, Elisabeth; Rivera, Barbara; Cordero, David; Moreno, Victor; Lazaro, Conxi; Moreno-Cabrera, Jose Marcos 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
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
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
Total Effective Xenoestrogen Burden in Serum Samples and Risk of Endometrial Cancer in the Spanish Screenwide Case-Control Study Costas, Laura; Frias-Gomez, Jon; Peinado, Francisco M.; Molina-Molina, Jose Manuel; Peremiquel-Trillas, Paula; Paytubi, Sonia; Crous-Bou, Marta; de Francisco, Javier; Cano, Victor; Benavente, Yolanda; Pelegrina, Beatriz; Martinez, Jose Manuel; Pineda, Marta; Brunet, Joan; Matias-Guiu, Xavier; de Sanjose, Silvia; Ponce, Jordi; Olea, Nicolas; Alemany, Laia; Fernandez, Mariana F. 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
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis Porras, Luz-Marina; Padilla, Natalia; Moles-Fernandez, Alejandro; Feliubadalo, Lidia; Santamarina-Pena, Marta; Sanchez, Alysson T.; Lopez-Novo, Anael; Blanco, Ana; de la Hoya, Miguel; Molina, Ignacio J.; Osorio, Ana; Pineda, Marta; Rueda, Daniel; Ruiz-Ponte, Clara; Vega, Ana; Lazaro, Conxi; Diez, Orland; Gutierrez-Enriquez, Sara; de la Cruz, Xavier Share Save
Occupational exposure to pesticides and endometrial cancer in the Screenwide case-control study Penalver-Pinol, Arnau; Benavente, Yolanda; Frias-Gomez, Jon; Alguacil, Juan; Santibanez, Miguel; Contreras-Llanes, Manuel; Peremiquel-Trillas, Paula; Lopez-Querol, Marta; Paytubi, Sonia; Pelegrina, Beatriz; Onieva, Irene; Martinez, Jose Manuel; Fernandez-Gonzalez, Sergi; de Francisco, Javier; Cano, Victor; Brunet, Joan; Pineda, Marta; Ponce, Jordi; Matias-Guiu, Xavier; Bosch, Francesc Xavier; de Sanjose, Silvia; Alemany, Laia; Costas, Laura Share Save
MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome Wiik, Mariann Unhjem; Negline, Mia; Beisvag, Vidar; Clapham, Matthew; Holliday, Elizabeth; Duenas, 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. 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
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer Fernandez-Castillejo, Sara; Roig, Barbara; Mele, Mireia; Serrano, Sara; Salvat, Monica; Querol, Montserrat; Brunet, Joan; Pineda, Marta; Cisneros, Adela; Parada, David; Badia, Joan; Borras, Joan; Rodriguez-Balada, Marta; Guma, Josep Share Save
Evaluation of somatic mutations in cervicovaginal samples as a non-invasive method for the detection and molecular classification of endometrial cancer Pelegrina, Beatriz; Paytubi, Sonia; Marin, Fatima; Martinez, Jose Manuel; Carmona, Alvaro; Frias-Gomez, Jon; Peremiquel-Trillas, Paula; Dorca, Eduard; Zanca, Alba; Lopez-Querol, Marta; Onieva, Irene; Benavente, Yolanda; Barahona, Marc; Fernandez-Gonzalez, Sergi; De Francisco, Javier; Cano, Victor; Vidal, August; Pijuan, Lara; Canet-Hermida, Julia; Duenas, Nuria; Brunet, Joan; Pineda, Marta; Matias-Guiu, Xavier; Ponce, Jordi; Bosch, Francesc Xavier; De Sanjose, Silvia; Alemany, Laia; Costasa, Laura Share Save
Evaluation of Somatic Mutations in Urine Samples as a Noninvasive Method for the Detection and Molecular Classification of Endometrial Cancer Costas, Laura; Onieva, Irene; Pelegrina, Beatriz; Marin, Fatima; Carmona, Alvaro; Lopez-Querol, Marta; Frias-Gomez, Jon; Peremiquel-Trillas, Paula; Martinez, Jose Manuel; Dorca, Eduard; Brunet, Joan; Pineda, Marta; Ponce, Jordi; Matias-Guiu, Xavier; de Sanjose, Silvia; Bosch, Francesc Xavier; Alemany, Laia; Paytubi, Sonia Share Save
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