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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: pita g. Cancers (Basel). 2022 Sep 28;14(19):4738. doi: 10.3390/cancers14194738. Cancers (Basel). 2022. PMID: 36230663 Free PMC article.
Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies.
Gonzalez-Neira A, Rosa-Rosa JM, Osorio A, Gonzalez E, Southey M, Sinilnikova O, Lynch H, Oldenburg RA, van Asperen CJ, Hoogerbrugge N, Pita G, Devilee P, Goldgar D, Benitez J. Gonzalez-Neira A, et al. Among authors: pita g. BMC Genomics. 2007 Aug 30;8:299. doi: 10.1186/1471-2164-8-299. BMC Genomics. 2007. PMID: 17760956 Free PMC article.
Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci.
Rosa-Rosa JM, Pita G, Urioste M, Llort G, Brunet J, Lázaro C, Blanco I, Ramón y Cajal T, Díez O, de la Hoya M, Caldés T, Tejada MI, González-Neira A, Benítez J. Rosa-Rosa JM, et al. Among authors: pita g. Am J Hum Genet. 2009 Feb;84(2):115-22. doi: 10.1016/j.ajhg.2008.12.013. Epub 2009 Jan 15. Am J Hum Genet. 2009. PMID: 19147119 Free PMC article.
A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer.
Rosa-Rosa JM, Pita G, González-Neira A, Milne RL, Fernandez V, Ruivenkamp C, van Asperen CJ, Devilee P, Benitez J. Rosa-Rosa JM, et al. Among authors: pita g. Breast Cancer Res Treat. 2009 Nov;118(1):151-9. doi: 10.1007/s10549-009-0317-1. Epub 2009 Feb 10. Breast Cancer Res Treat. 2009. PMID: 19205878
Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.
Gracia-Aznarez FJ, Fernandez V, Pita G, Peterlongo P, Dominguez O, de la Hoya M, Duran M, Osorio A, Moreno L, Gonzalez-Neira A, Rosa-Rosa JM, Sinilnikova O, Mazoyer S, Hopper J, Lazaro C, Southey M, Odefrey F, Manoukian S, Catucci I, Caldes T, Lynch HT, Hilbers FS, van Asperen CJ, Vasen HF, Goldgar D, Radice P, Devilee P, Benitez J. Gracia-Aznarez FJ, et al. Among authors: pita g. PLoS One. 2013;8(2):e55681. doi: 10.1371/journal.pone.0055681. Epub 2013 Feb 8. PLoS One. 2013. PMID: 23409019 Free PMC article.
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.
Osorio A, Milne RL, Kuchenbaecker K, Vaclová T, Pita G, Alonso R, Peterlongo P, Blanco I, de la Hoya M, Duran M, Díez O, Ramón Y Cajal T, Konstantopoulou I, Martínez-Bouzas C, Andrés Conejero R, Soucy P, McGuffog L, Barrowdale D, Lee A; SWE-BRCA; Arver B, Rantala J, Loman N, Ehrencrona H, Olopade OI, Beattie MS, Domchek SM, Nathanson K, Rebbeck TR, Arun BK, Karlan BY, Walsh C, Lester J, John EM, Whittemore AS, Daly MB, Southey M, Hopper J, Terry MB, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Ejlertsen B, Gerdes AM, Infante M, Herráez B, Moreno LT, Weitzel JN, Herzog J, Weeman K, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Bonanni B, Mariette F, Volorio S, Viel A, Varesco L, Papi L, Ottini L, Tibiletti MG, Radice P, Yannoukakos D, Garber J, Ellis S, Frost D, Platte R, Fineberg E, Evans G, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Eccles D, Cook J, Hodgson S, Brewer C, Tischkowitz M, Douglas F, Porteous M, Side L, Walker L, Morrison P, Donaldson A, Kennedy J, Foo C, Godwin AK, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wa… See abstract for full author list ➔ Osorio A, et al. Among authors: pita g. PLoS Genet. 2014 Apr 3;10(4):e1004256. doi: 10.1371/journal.pgen.1004256. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24698998 Free PMC article.
Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas.
Remacha L, Comino-Méndez I, Richter S, Contreras L, Currás-Freixes M, Pita G, Letón R, Galarreta A, Torres-Pérez R, Honrado E, Jiménez S, Maestre L, Moran S, Esteller M, Satrústegui J, Eisenhofer G, Robledo M, Cascón A. Remacha L, et al. Among authors: pita g. Clin Cancer Res. 2017 Oct 15;23(20):6315-6324. doi: 10.1158/1078-0432.CCR-16-2250. Epub 2017 Jul 18. Clin Cancer Res. 2017. PMID: 28720665
Gain-of-function mutations in DNMT3A in patients with paraganglioma.
Remacha L, Currás-Freixes M, Torres-Ruiz R, Schiavi F, Torres-Pérez R, Calsina B, Letón R, Comino-Méndez I, Roldán-Romero JM, Montero-Conde C, Santos M, Pérez LI, Pita G, Alonso MR, Honrado E, Pedrinaci S, Crespo-Facorro B, Percesepe A, Falcioni M, Rodríguez-Perales S, Korpershoek E, Ramón-Maiques S, Opocher G, Rodríguez-Antona C, Robledo M, Cascón A. Remacha L, et al. Among authors: pita g. Genet Med. 2018 Dec;20(12):1644-1651. doi: 10.1038/s41436-018-0003-y. Epub 2018 May 8. Genet Med. 2018. PMID: 29740169 Free article.
Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer.
Paumard-Hernández B, Calvete O, Inglada Pérez L, Tejero H, Al-Shahrour F, Pita G, Barroso A, Carlos Triviño J, Urioste M, Valverde C, González Billalabeitia E, Quiroga V, Francisco Rodríguez Moreno J, Fernández Aramburo A, López C, Maroto P, Sastre J, José Juan Fita M, Duran I, Lorenzo-Lorenzo I, Iranzo P, García Del Muro X, Ros S, Zambrana F, María Autran A, Benítez J. Paumard-Hernández B, et al. Among authors: pita g. Int J Cancer. 2018 Oct 15;143(8):1954-1962. doi: 10.1002/ijc.31604. Epub 2018 Aug 9. Int J Cancer. 2018. PMID: 29761480 Free article.
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: pita g. Hum Mutat. 2019 May;40(5):566-577. doi: 10.1002/humu.23732. Epub 2019 Mar 13. Hum Mutat. 2019. PMID: 30817846
103 results