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Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Published in:
Journal of Cancer Research & Clinical Oncology, 2018, v. 144, n. 12, p. 2495, doi. 10.1007/s00432-018-2763-9
By:
- Bonache, Sandra;
- Esteban, Irene;
- Moles-Fernández, Alejandro;
- Tenés, Anna;
- Duran-Lozano, Laura;
- Montalban, Gemma;
- Bach, Vanessa;
- Carrasco, Estela;
- Gadea, Neus;
- López-Fernández, Adrià;
- Torres-Esquius, Sara;
- Mancuso, Francesco;
- Caratú, Ginevra;
- Vivancos, Ana;
- Tuset, Noemí;
- Balmaña, Judith;
- Gutiérrez-Enríquez, Sara;
- Diez, Orland
Publication type:
Article
Anogenital distance and the risk of prostate cancer.
Published in:
BJU International, 2012, v. 110, n. 11b, p. E707, doi. 10.1111/j.1464-410X.2012.11516.x
By:
- Castaño-Vinyals, Gemma;
- Carrasco, Estela;
- Lorente, José Antonio;
- Sabaté, Yasmin;
- Cirac-Claveras, Judith;
- Pollán, Marina;
- Kogevinas, Manolis
Publication type:
Article
Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.
Published in:
Journal of Genetic Counseling, 2023, v. 32, n. 4, p. 778, doi. 10.1002/jgc4.1687
By:
- López‐Fernández, Adrià;
- Villacampa, Guillermo;
- Salinas, Mònica;
- Grau, Elia;
- Darder, Esther;
- Carrasco, Estela;
- Solanes, Ares;
- Velasco, Angela;
- Torres, Maite;
- Munté, Elisabet;
- Iglesias, Silvia;
- Torres‐Esquius, Sara;
- Tuset, Noemí;
- Diez, Orland;
- Lázaro, Conxi;
- Brunet, Joan;
- Corbella, Sergi;
- Balmaña, Judith
Publication type:
Article
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
Published in:
Breast Cancer Research & Treatment, 2019, v. 174, n. 2, p. 543, doi. 10.1007/s10549-018-05094-8
By:
- Duran-Lozano, Laura;
- Montalban, Gemma;
- Bonache, Sandra;
- Moles-Fernández, Alejandro;
- Tenés, Anna;
- Castroviejo-Bermejo, Marta;
- Carrasco, Estela;
- López-Fernández, Adrià;
- Torres-Esquius, Sara;
- Gadea, Neus;
- Stjepanovic, Neda;
- Balmaña, Judith;
- Gutiérrez-Enríquez, Sara;
- Diez, Orland
Publication type:
Article
Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.
Published in:
American Journal of Hematology, 2021, v. 96, n. 8, p. 989, doi. 10.1002/ajh.26234
By:
- Ramírez, María José;
- Pujol, Roser;
- Trujillo‐Quintero, Juan Pablo;
- Minguillón, Jordi;
- Bogliolo, Massimo;
- Río, Paula;
- Navarro, Susana;
- Casado, José A.;
- Badell, Isabel;
- Carrasco, Estela;
- Balmaña, Judith;
- Català, Albert;
- Sevilla, Julián;
- Beléndez, Cristina;
- Argilés, Bienvenida;
- López, Mónica;
- Díaz de Heredia, Cristina;
- Rao, Gayatri;
- Nicoletti, Eileen;
- Schwartz, Jonathan D.
Publication type:
Article
Clinical consequences of BRCA2 hypomorphism.
Published in:
NPJ Breast Cancer, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41523-021-00322-9
By:
- 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
Publication type:
Article
Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants.
Published in:
NPJ Breast Cancer, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41523-021-00224-w
By:
- 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
Publication type:
Article
Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma.
Published in:
Cancers, 2023, v. 15, n. 6, p. 1871, doi. 10.3390/cancers15061871
By:
- Errazquin, Ricardo;
- Carrasco, Estela;
- Del Marro, Sonia;
- Suñol, Anna;
- Peral, Jorge;
- Ortiz, Jessica;
- Rubio, Juan Carlos;
- Segrelles, Carmen;
- Dueñas, Marta;
- Garrido-Aranda, Alicia;
- Alvarez, Martina;
- Belendez, Cristina;
- Balmaña, Judith;
- Garcia-Escudero, Ramon
Publication type:
Article
Pregnancy After Breast Cancer in Young BRCA Carriers: An International Hospital-Based Cohort Study.
Published in:
JAMA: Journal of the American Medical Association, 2024, v. 331, n. 1, p. 49, doi. 10.1001/jama.2023.25463
By:
- Lambertini, Matteo;
- Blondeaux, Eva;
- Agostinetto, Elisa;
- Hamy, Anne-Sophie;
- Kim, Hee Jeong;
- Di Meglio, Antonio;
- Bernstein Molho, Rinat;
- Hilbers, Florentine;
- Pogoda, Katarzyna;
- Carrasco, Estela;
- Punie, Kevin;
- Bajpai, Jyoti;
- Ignatiadis, Michail;
- Moore, Halle C. F.;
- Phillips, Kelly-Anne;
- Toss, Angela;
- Rousset-Jablonski, Christine;
- Peccatori, Fedro A.;
- Renaud, Tiphaine;
- Ferrari, Alberta
Publication type:
Article
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Published in:
Clinical Chemistry, 2024, v. 70, n. 5, p. 737, doi. 10.1093/clinchem/hvae027
By:
- Marín, Fátima;
- Canet-Hermida, Júlia;
- Bianchi, Vanessa;
- Chung, Jiil;
- Wimmer, Katharina;
- Foulkes, William;
- Pérez-Alonso, Vanesa;
- Domínguez-Pinilla, Nerea;
- Sábado, Constantino;
- Vázquez-Gómez, Felisa;
- Molinés, Antonio;
- Fioravantti, Victoria;
- Carrasco, Estela;
- Stengs, Lucie;
- Edwards, Melissa;
- Negm, Logine;
- Das, Anirban;
- Aronson, Melyssa;
- Pastor, Ángela;
- Rueda, Daniel
Publication type:
Article
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Published in:
Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00366
By:
- Moles-Fernández, Alejandro;
- Duran-Lozano, Laura;
- Montalban, Gemma;
- Bonache, Sandra;
- López-Perolio, Irene;
- Menéndez, Mireia;
- Santamariña, Marta;
- Behar, Raquel;
- Blanco, Ana;
- Carrasco, Estela;
- López-Fernández, Adrià;
- Stjepanovic, Neda;
- Balmaña, Judith;
- Capellá, Gabriel;
- Pineda, Marta;
- Vega, Ana;
- Lázaro, Conxi;
- de la Hoya, Miguel;
- Diez, Orland;
- Gutiérrez-Enríquez, Sara
Publication type:
Article
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
Published in:
International Journal of Cancer, 2019, v. 145, n. 10, p. 2682, doi. 10.1002/ijc.32304
By:
- Feliubadaló, Lídia;
- López‐Fernández, Adrià;
- Pineda, Marta;
- Díez, Orland;
- Valle, Jesús;
- Gutiérrez‐Enríquez, Sara;
- Teulé, Alex;
- González, Sara;
- Stjepanovic, Neda;
- Salinas, Mónica;
- Capellá, Gabriel;
- Brunet, Joan;
- Lázaro, Conxi;
- Balmaña, Judith;
- Campos, Olga;
- Carrasco, Estela;
- Cuesta, Raquel;
- Darder, Esther;
- Gadea, Neus;
- Gómez, Carolina
Publication type:
Article
Characterization of the Small RNA Transcriptome of the Marine Coccolithophorid, Emiliania huxleyi.
Published in:
PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0154279
By:
- Zhang, Xiaoyu;
- Gamarra, Jaime;
- Castro, Steven;
- Carrasco, Estela;
- Hernandez, Aaron;
- Mock, Thomas;
- Hadaegh, Ahmad R.;
- Read, Betsy A.
Publication type:
Article
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.
Published in:
2023
By:
- Marmolejo Castañeda, David Humberto;
- Cruellas Lapeña, Mara;
- Carrasco López, Estela;
- Aparicio Español, Gloria;
- Valverde Morales, Claudia;
- López-Fernández, Adrià;
- Pérez Ballesteros, Eduard;
- Torres-Esquius, Sara;
- Pardo Muñoz, Mónica;
- Balmaña Gelpi, Judith
Publication type:
Case Study
BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.
Published in:
Familial Cancer, 2015, v. 14, n. 4, p. 505, doi. 10.1007/s10689-015-9814-z
By:
- de Juan, Inmaculada;
- Palanca, Sarai;
- Domenech, Asunción;
- Feliubadaló, Lidia;
- Segura, Ángel;
- Osorio, Ana;
- Chirivella, Isabel;
- de la Hoya, Miguel;
- Sánchez, Ana;
- Infante, Mar;
- Tena, Isabel;
- Díez, Orland;
- Garcia-Casado, Zaida;
- Vega, Ana;
- Teulé, Àlex;
- Barroso, Alicia;
- Pérez, Pedro;
- Durán, Mercedes;
- Carrasco, Estela;
- Juan-Fita, Mª
Publication type:
Article
Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.
Published in:
Human Mutation, 2019, v. 40, n. 12, p. 2296, doi. 10.1002/humu.23882
By:
- Montalban, Gemma;
- Bonache, Sandra;
- Moles‐Fernández, Alejandro;
- Gadea, Neus;
- Tenés, Anna;
- Torres‐Esquius, Sara;
- Carrasco, Estela;
- Balmaña, Judith;
- Diez, Orland;
- Gutiérrez‐Enríquez, Sara
Publication type:
Article
Characterization of HER2‐low breast cancer in young women with germline BRCA1/2 pathogenetic variants: Results of a large international retrospective cohort study.
Published in:
Cancer (0008543X), 2024, v. 130, n. 16, p. 2746, doi. 10.1002/cncr.35323
By:
- Schettini, Francesco;
- Blondeaux, Eva;
- Molinelli, Chiara;
- Bas, Raphaëlle;
- Kim, Hee Jeong;
- Di Meglio, Antonio;
- Bernstein Molho, Rinat;
- Linn, Sabine C.;
- Pogoda, Katarzyna;
- Carrasco, Estela;
- Punie, Kevin;
- Agostinetto, Elisa;
- Lopetegui‐Lia, Nerea;
- Phillips, Kelly‐Anne;
- Toss, Angela;
- Rousset‐Jablonski, Christine;
- Acheritogaray, Marion;
- Ferrari, Alberta;
- Paluch‐Shimon, Shani;
- Fruscio, Robert
Publication type:
Article

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