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Issue Date | Title | Author(s) |
---|---|---|
1-Nov-2020 | Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements | Turashvili, Gulisa; Lázaro García, Conxi; Ying, Shengjie; Charames, George; Wong, Andrew; Hamilton, Krista; Yee, Denise; Agro, Evangeline; Chang, Martin; Pollett, Aaron; Lerner-Ellis, Jordan |
21-Oct-2020 | Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia | Asis Tuazon, Anna Marie De; Lott, Paul; Bohorquez, Mabel; Benavides, Jennyfer; Ramirez, Carolina; Criollo, Angel; Estrada Florez, Ana; Mateus, Gilbert; Velez, Alejandro; Carmona, Jenny; Olaya, Justo; Garcia, Elisha; Polanco Echeverry, Guadalupe; Stultz, Jacob; Alvarez, Carolina; Tapia, Teresa; Ashton Prolla, Patricia; Vega, Ana; Lázaro García, Conxi; Tornero, Eva; Martinez Bouzas, Cristina; Infante, Mar; Hoya, Miguel De La; Diez, Orland; Browning, Brian L.; Rannala, Bruce; Teixeira, Manuel R.; Carvallo, Pilar; Echeverry, Magdalena; Carvajal Carmona, Luis G.; Brazilian Familial Cancer Network; COLUMBUS Consortium |
23-Jan-2021 | BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort | Rofes, Paula; Valle, Jesús del; Torres Esquius, Sara; Feliubadaló i Elorza, Maria Lídia; Stradella, Agostina; Moreno Cabrera, José Marcos; López Dóriga Guerra, Adriana; Munté, Elisabet; Cid, Rafael de; Campos, Olga; Cuesta, Raquel; Teulé-Vega, Àlex; Grau Garcés, Èlia; Sanz, Judit; Capellá, G. (Gabriel); Díez Gibert, Orland; Brunet, Joan; Balmaña, Judith; Lázaro García, Conxi |
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. |
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-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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