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Page 1
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: macias ja. Hum Mutat. 2019 May;40(5):566-577. doi: 10.1002/humu.23732. Epub 2019 Mar 13. Hum Mutat. 2019. PMID: 30817846
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: macias ja. 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
DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers.
Vaclová T, Gómez-López G, Setién F, Bueno JM, Macías JA, Barroso A, Urioste M, Esteller M, Benítez J, Osorio A. Vaclová T, et al. Among authors: macias ja. Breast Cancer Res Treat. 2015 Jul;152(2):271-82. doi: 10.1007/s10549-015-3459-3. Epub 2015 Jun 14. Breast Cancer Res Treat. 2015. PMID: 26071757
Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.
Vaclová T, Woods NT, Megías D, Gomez-Lopez S, Setién F, García Bueno JM, Macías JA, Barroso A, Urioste M, Esteller M, Monteiro ANA, Benítez J, Osorio A. Vaclová T, et al. Among authors: macias ja. Hum Mol Genet. 2016 Dec 15;25(24):5287-5299. doi: 10.1093/hmg/ddw343. Hum Mol Genet. 2016. PMID: 27742776 Free PMC article.
Customized treatment in non-small-cell lung cancer based on EGFR mutations and BRCA1 mRNA expression.
Rosell R, Perez-Roca L, Sanchez JJ, Cobo M, Moran T, Chaib I, Provencio M, Domine M, Sala MA, Jimenez U, Diz P, Barneto I, Macias JA, de Las Peñas R, Catot S, Isla D, Sanchez JM, Ibeas R, Lopez-Vivanco G, Oramas J, Mendez P, Reguart N, Blanco R, Taron M. Rosell R, et al. Among authors: macias ja. PLoS One. 2009;4(5):e5133. doi: 10.1371/journal.pone.0005133. Epub 2009 May 5. PLoS One. 2009. PMID: 19415121 Free PMC article. Clinical Trial.
Methotrexate, uracil and tegafur, and leucovorin chemotherapy for patients with breast cancer in progression after high-dose chemotherapy with peripheral blood progenitor cell transplant: a phase II study.
Martín M, Casado A, Macias JA, Garcia-Carbonero I, Garcia-Saenz JA, Oruezabal M, Manrique I, Diaz-Rubio E. Martín M, et al. Among authors: macias ja. Am J Clin Oncol. 2000 Dec;23(6):617-21. doi: 10.1097/00000421-200012000-00019. Am J Clin Oncol. 2000. PMID: 11202810 Clinical Trial.
Worldwide Diagnostic Reference Levels for Single-Photon Emission Computed Tomography Myocardial Perfusion Imaging: Findings From INCAPS.
Hirschfeld CB, Dondi M, Pascual TNB, Mercuri M, Vitola J, Karthikeyan G, Better N, Mahmarian JJ, Bouyoucef SE, Hee-Seung Bom H, Lele V, Magboo VPC, Alexánderson E, Allam AH, Al-Mallah MH, Flotats A, Jerome S, Kaufmann PA, Luxenburg O, Underwood SR, Rehani MM, Vassileva J, Paez D, Einstein AJ; INCAPS Investigators Group. Hirschfeld CB, et al. JACC Cardiovasc Imaging. 2021 Mar;14(3):657-665. doi: 10.1016/j.jcmg.2020.06.029. Epub 2020 Aug 19. JACC Cardiovasc Imaging. 2021. PMID: 32828783 Free article.
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