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POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.
Esteban-Jurado C, Giménez-Zaragoza D, Muñoz J, Franch-Expósito S, Álvarez-Barona M, Ocaña T, Cuatrecasas M, Carballal S, López-Cerón M, Marti-Solano M, Díaz-Gay M, van Wezel T, Castells A, Bujanda L, Balmaña J, Gonzalo V, Llort G, Ruiz-Ponte C, Cubiella J, Balaguer F, Aligué R, Castellví-Bel S. Esteban-Jurado C, et al. Among authors: alvarez barona m. Oncotarget. 2017 Apr 18;8(16):26732-26743. doi: 10.18632/oncotarget.15810. Oncotarget. 2017. PMID: 28423643 Free PMC article.
Candidate predisposing germline copy number variants in early onset colorectal cancer patients.
Brea-Fernandez AJ, Fernandez-Rozadilla C, Alvarez-Barona M, Azuara D, Ginesta MM, Clofent J, de Castro L, Gonzalez D, Andreu M, Bessa X, Llor X, Xicola R, Jover R, Castells A, Castellvi-Bel S, Capella G, Carracedo A, Ruiz-Ponte C. Brea-Fernandez AJ, et al. Among authors: alvarez barona m. Clin Transl Oncol. 2017 May;19(5):625-632. doi: 10.1007/s12094-016-1576-z. Epub 2016 Nov 25. Clin Transl Oncol. 2017. PMID: 27888432
Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer.
Fernández-Rozadilla C, Álvarez-Barona M, Quintana I, López-Novo A, Amigo J, Cameselle-Teijeiro JM, Roman E, Gonzalez D, Llor X, Bujanda L, Bessa X, Jover R, Balaguer F, Castells A, Castellví-Bel S, Capellá G, Carracedo A, Valle L, Ruiz-Ponte C. Fernández-Rozadilla C, et al. Among authors: alvarez barona m. Sci Rep. 2021 May 27;11(1):11135. doi: 10.1038/s41598-021-90590-z. Sci Rep. 2021. PMID: 34045552 Free PMC article.
Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.
Fernandez-Rozadilla C, Alvarez-Barona M, Schamschula E, Bodo S, Lopez-Novo A, Dacal A, Calviño-Costas C, Lancho A, Amigo J, Bello X, Cameselle-Teijeiro JM, Carracedo A, Colas C, Muleris M, Wimmer K, Ruiz-Ponte C. Fernandez-Rozadilla C, et al. Among authors: alvarez barona m. Cancers (Basel). 2019 Jul 30;11(8):1081. doi: 10.3390/cancers11081081. Cancers (Basel). 2019. PMID: 31366136 Free PMC article.
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Brea-Fernández AJ, Álvarez-Barona M, Amigo J, Tubío-Fungueiriño M, Caamaño P, Fernández-Prieto M, Barros F, De Rubeis S, Buxbaum J, Carracedo Á. Brea-Fernández AJ, et al. Among authors: alvarez barona m. Eur J Hum Genet. 2022 Aug;30(8):938-945. doi: 10.1038/s41431-022-01087-w. Epub 2022 Mar 23. Eur J Hum Genet. 2022. PMID: 35322241 Free PMC article.
BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis.
Bonjoch L, Fernandez-Rozadilla C, Alvarez-Barona M, Lopez-Novo A, Herrera-Pariente C, Amigo J, Bujanda L, Remedios D, Dacal A, Cubiella J, Balaguer F, Fernández-Bañares F, Carracedo A, Jover R, Castellvi-Bel S, Ruiz-Ponte C. Bonjoch L, et al. Among authors: alvarez barona m. Gastroenterology. 2023 Jul;165(1):162-172.e5. doi: 10.1053/j.gastro.2023.03.006. Epub 2023 Mar 11. Gastroenterology. 2023. PMID: 36907526 Free article.