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722 results

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Page 1
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.
Valle L, Hernández-Illán E, Bellido F, Aiza G, Castillejo A, Castillejo MI, Navarro M, Seguí N, Vargas G, Guarinos C, Juarez M, Sanjuán X, Iglesias S, Alenda C, Egoavil C, Segura Á, Juan MJ, Rodriguez-Soler M, Brunet J, González S, Jover R, Lázaro C, Capellá G, Pineda M, Soto JL, Blanco I. Valle L, et al. Among authors: segura a. Hum Mol Genet. 2014 Jul 1;23(13):3506-12. doi: 10.1093/hmg/ddu058. Epub 2014 Feb 5. Hum Mol Genet. 2014. PMID: 24501277
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.
Castillejo A, Vargas G, Castillejo MI, Navarro M, Barberá VM, González S, Hernández-Illán E, Brunet J, Ramón y Cajal T, Balmaña J, Oltra S, Iglesias S, Velasco A, Solanes A, Campos O, Sánchez Heras AB, Gallego J, Carrasco E, González Juan D, Segura A, Chirivella I, Juan MJ, Tena I, Lázaro C, Blanco I, Pineda M, Capellá G, Soto JL. Castillejo A, et al. Among authors: segura a. Eur J Cancer. 2014 Sep;50(13):2241-50. doi: 10.1016/j.ejca.2014.05.022. Epub 2014 Jun 18. Eur J Cancer. 2014. PMID: 24953332
EPCAM germ line deletions as causes of Lynch syndrome in Spanish patients.
Guarinos C, Castillejo A, Barberá VM, Pérez-Carbonell L, Sánchez-Heras AB, Segura A, Guillén-Ponce C, Martínez-Cantó A, Castillejo MI, Egoavil CM, Jover R, Payá A, Alenda C, Soto JL. Guarinos C, et al. Among authors: segura a. J Mol Diagn. 2010 Nov;12(6):765-70. doi: 10.2353/jmoldx.2010.100039. Epub 2010 Sep 23. J Mol Diagn. 2010. PMID: 20864635 Free PMC article.
Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.
Castillejo A, Guarinos C, Martinez-Canto A, Barbera VM, Egoavil C, Castillejo MI, Perez-Carbonell L, Sanchez-Heras AB, Segura A, Ochoa E, Lazaro R, Ruiz-Ponte C, Bujanda L, Andreu M, Castells A, Carracedo A, Llor X, Clofent J, Alenda C, Paya A, Jover R, Soto JL. Castillejo A, et al. Among authors: segura a. BMC Med Genet. 2011 Jan 19;12:12. doi: 10.1186/1471-2350-12-12. BMC Med Genet. 2011. PMID: 21247423 Free PMC article.
Characterization of a novel POLD1 missense founder mutation in a Spanish population.
Ferrer-Avargues R, Díez-Obrero V, Martín-Tomás E, Hernández-Illán E, Castillejo MI, Codoñer-Alejos A, Barberá VM, Sánchez-Heras AB, Segura Á, Juan MJ, Tena I, Castillejo A, Soto JL. Ferrer-Avargues R, et al. Among authors: segura a. J Gene Med. 2017 Apr;19(4). doi: 10.1002/jgm.2951. J Gene Med. 2017. PMID: 28306219
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues R, Castillejo MI, Dámaso E, Díez-Obrero V, Garrigos N, Molina T, Codoñer-Alejos A, Segura Á, Sánchez-Heras AB, Castillejo A, Soto JL. Ferrer-Avargues R, et al. Among authors: segura a. Cancer Commun (Lond). 2021 Mar;41(3):218-228. doi: 10.1002/cac2.12134. Epub 2021 Feb 25. Cancer Commun (Lond). 2021. PMID: 33630411 Free PMC article.
Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).
Ramírez-Calvo M, García-Casado Z, Fernández-Serra A, de Juan I, Palanca S, Oltra S, Soto JL, Castillejo A, Barbera VM, Juan-Fita MJ, Segura Á, Chirivella I, Sánchez AB, Tena I, Chaparro C, Salas D, López-Guerrero JA. Ramírez-Calvo M, et al. Among authors: segura a. Hered Cancer Clin Pract. 2019 Jan 18;17:3. doi: 10.1186/s13053-019-0104-x. eCollection 2019. Hered Cancer Clin Pract. 2019. PMID: 30675318 Free PMC article.
Immunohistochemical, genetic and epigenetic profiles of hereditary and triple negative breast cancers. Relevance in personalized medicine.
Murria R, Palanca S, de Juan I, Alenda C, Egoavil C, Seguí FJ, García-Casado Z, Juan MJ, Sánchez AB, Segura Á, Santaballa A, Chirivella I, Llop M, Pérez G, Barragán E, Salas D, Bolufer P. Murria R, et al. Among authors: segura a. Am J Cancer Res. 2015 Jun 15;5(7):2330-43. eCollection 2015. Am J Cancer Res. 2015. PMID: 26328265 Free PMC article.
BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.
de Juan I, Palanca S, Domenech A, Feliubadaló L, Segura Á, Osorio A, Chirivella I, de la Hoya M, Sánchez AB, Infante M, Tena I, Díez O, Garcia-Casado Z, Vega A, Teulé À, Barroso A, Pérez P, Durán M, Carrasco E, Juan-Fita MJ, Murria R, Llop M, Barragan E, Izquierdo Á, Benítez J, Caldés T, Salas D, Bolufer P. de Juan I, et al. Among authors: segura a. Fam Cancer. 2015 Dec;14(4):505-13. doi: 10.1007/s10689-015-9814-z. Fam Cancer. 2015. PMID: 26026974
722 results