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| Issue Date | Title | Author(s) |
|---|---|---|
| 28-Jan-2021 | Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer | Elkholi, Islam E.; Iorio, Massimo Di; Fahiminiya, Somayyeh; Arcand, Suzanna L.; Han, Hyerim; Nogué, Clara; Behl, Supriya; Hamel, Nancy; Giroux, Sylvie; Ladurantaye, Manon de; Aleynikova, Olga; Gotlieb, Walter H.; Côté, Jean-François; Rousseau, François; Tonin, Patricia N.; Provencher, Diane; Mesmasson, Anne-Marie; Akbari, Mohammad R.; Rivera, Barbara; Foulkes, William D. |
| 1-Feb-2017 | Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers | Lázaro García, Conxi; BCFR Investigators; EMBRACE Collaborators; GEMO Study Collaborators; HEBON Investigators; KConFab Investigators |
| 5-Sep-2018 | Computational tools for splicing defect prediction in breast/ovarian cancer genes: how efficient are they at predicting RNA alterations? | Moles-Fernández, Alejandro; Duran-Lozano, Laura; Montalban, Gemma; Bonache, Sandra; López-Perolio, Irene; Menéndez Vilà, Mireia; Santamariña-Pena, Marta; Behar, Raquel; Blanco, Ana; Carrasco, Estela; López-Fernández, Adrià; Stjepanovic, Neda; Balmaña, Judith; Capellá, G. (Gabriel); Pineda Riu, Marta; Vega, Ana; Lázaro García, Conxi; Hoya, Miguel de la; Díez Gibert, Orland; Gutiérrez Enríquez, Sara |
| 1-May-2018 | Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations | Feliubadaló i Elorza, Maria Lídia; Teulé-Vega, Àlex; CIMBA Consortium |
| 7-Jun-2021 | RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants | Bueno Martínez, Elena; Sanoguera Miralles, Lara; Valenzuela Palomo, Alberto; Lorca, Víctor; Gómez Sanz, Alicia; Carvalho, Sara; Allen, Jamie; Infante, Mar; Pérez Segura, Pedro; Lázaro García, Conxi; Easton, Douglas F.; Devilee, Peter; Vreeswijk, Maaike P. G.; Hoya, Miguel de la; Velasco, Eladio A. |
| 1-Apr-2020 | Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients | Valle, Jesús del; Rofes, Paula; Moreno Cabrera, José Marcos; López Dóriga Guerra, Adriana; Belhadj, Sami; Vargas Parra, Gardenía María; Teulé-Vega, Àlex; Cuesta, Raquel; Muñoz, Xavier; Campos, Olga; Salinas Masdeu, Mònica; Cid, Rafael de; Brunet, Joan; González, Sara; Capellá, G. (Gabriel); Pineda Riu, Marta; Feliubadaló i Elorza, Maria Lídia; Lázaro García, Conxi |
| 1-Feb-2019 | GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes | Caleca, Laura; Colombo, Mara; van Overeem Hansen, Thomas; Lázaro García, Conxi; Manoukian, Siranoush; Parsons, Michael T.; Spurdle, Amanda B.; Radice, Paolo |
| 1-Oct-2020 | Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants | Brunet, Joan; Izquierdo i Font, Àngel Xavier; Lázaro García, Conxi; Pujana Genestar, M. Ángel; GEMO Study Collaborators; EMBRACE Collaborators; KConFab Investigators; HEBON Investigators; GENEPSO Investigators |
| 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, Conxi |
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