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A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.
Marchena-Perea EM, Salazar-Hidalgo ME, Gómez-Sanz A, Arranz-Ledo M, Barroso A, Fernández V, Tejera-Pérez H, Pita G, Núñez-Torres R, Pombo L, Morales-Chamorro R, Cano-Cano JM, Soriano MDC, Garre P, Durán M, Currás-Freixes M, de la Hoya M, Osorio A. Marchena-Perea EM, et al. Among authors: osorio a. Cancers (Basel). 2022 Sep 28;14(19):4738. doi: 10.3390/cancers14194738. Cancers (Basel). 2022. PMID: 36230663 Free PMC article.
MicroRNA-based molecular classification of non-BRCA1/2 hereditary breast tumours.
Tanic M, Andrés E, Rodriguez-Pinilla SM, Marquez-Rodas I, Cebollero-Presmanes M, Fernandez V, Osorio A, Benítez J, Martinez-Delgado B. Tanic M, et al. Among authors: osorio a. Br J Cancer. 2013 Nov 12;109(10):2724-34. doi: 10.1038/bjc.2013.612. Epub 2013 Oct 8. Br J Cancer. 2013. PMID: 24104964 Free PMC article.
Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.
Tavera-Tapia A, Pérez-Cabornero L, Macías JA, Ceballos MI, Roncador G, de la Hoya M, Barroso A, Felipe-Ponce V, Serrano-Blanch R, Hinojo C, Miramar-Gallart MD, Urioste M, Caldés T, Santillan-Garzón S, Benitez J, Osorio A. Tavera-Tapia A, et al. Among authors: osorio a. Breast Cancer Res Treat. 2017 Feb;161(3):597-604. doi: 10.1007/s10549-016-4058-7. Epub 2016 Dec 2. Breast Cancer Res Treat. 2017. PMID: 27913932
RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility.
Tavera-Tapia A, de la Hoya M, Calvete O, Martin-Gimeno P, Fernández V, Macías JA, Alonso B, Pombo L, de Diego C, Alonso R, Pita G, Barroso A, Urioste M, Caldés T, Newman JA, Benítez J, Osorio A. Tavera-Tapia A, et al. Among authors: osorio a. Hum Mutat. 2019 May;40(5):566-577. doi: 10.1002/humu.23732. Epub 2019 Mar 13. Hum Mutat. 2019. PMID: 30817846
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
Breast Cancer Association Consortium; Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, Törngren T, Harrington PA, Baynes C, Conroy DM, Decker B, Fachal L, Mavaddat N, Ahearn T, Aittomäki K, Antonenkova NN, Arnold N, Arveux P, Ausems MGEM, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Białkowska K, Blomqvist C, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Bremer M, Briceno I, Brüning T, Burwinkel B, Cameron DA, Camp NJ, Campbell A, Carracedo A, Castelao JE, Cessna MH, Chanock SJ, Christiansen H, Collée JM, Cordina-Duverger E, Cornelissen S, Czene K, Dörk T, Ekici AB, Engel C, Eriksson M, Fasching PA, Figueroa J, Flyger H, Försti A, Gabrielson M, Gago-Dominguez M, Georgoulias V, Gil F, Giles GG, Glendon G, Garcia EBG, Alnæs GIG, Guénel P, Hadjisavvas A, Haeberle L, Hahnen E, Hall P, Hamann U, Harkness EF, Hartikainen JM, Hartman M, He W, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Hollestelle A, Ho WK, Hooning MJ, Howell A, Hump… See abstract for full author list ➔ Breast Cancer Association Consortium, et al. Among authors: osorio a. N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20. N Engl J Med. 2021. PMID: 33471991 Free PMC article.
Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.
Benito-Sánchez B, Barroso A, Fernández V, Mercadillo F, Núñez-Torres R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano JM, Urioste M, González-Neira A, Osorio A. Benito-Sánchez B, et al. Among authors: osorio a. Sci Rep. 2022 May 20;12(1):8547. doi: 10.1038/s41598-022-12480-2. Sci Rep. 2022. PMID: 35595798 Free PMC article.
530 results