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Page 1
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernàndez G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiella J, Rodríguez-Alcalde D, Holinski-Feder E, de Voer R, Buchanan DD, Aretz S, Ruiz-Ponte C, Valle L, Balaguer F, Bonjoch L, Castellvi-Bel S. Soares de Lima Y, et al. Among authors: bonjoch l. J Med Genet. 2023 Jun;60(6):557-567. doi: 10.1136/jmg-2022-108684. Epub 2022 Oct 21. J Med Genet. 2023. PMID: 36270769 Free PMC article.
Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis.
Franch-Expósito S, Esteban-Jurado C, Garre P, Quintanilla I, Duran-Sanchon S, Díaz-Gay M, Bonjoch L, Cuatrecasas M, Samper E, Muñoz J, Ocaña T, Carballal S, López-Cerón M, Castells A; EPICOLON consortium; Vila-Casadesús M, Derdak S, Laurie S, Beltran S, Carvajal J, Bujanda L, Ruiz-Ponte C, Camps J, Gironella M, Lozano JJ, Balaguer F, Cubiella J, Caldés T, Castellví-Bel S. Franch-Expósito S, et al. Among authors: bonjoch l. J Genet Genomics. 2018 Jan 20;45(1):41-45. doi: 10.1016/j.jgg.2017.12.001. Epub 2017 Dec 20. J Genet Genomics. 2018. PMID: 29396139 No abstract available.
Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer.
Díaz-Gay M, Franch-Expósito S, Arnau-Collell C, Park S, Supek F, Muñoz J, Bonjoch L, Gratacós-Mulleras A, Sánchez-Rojas PA, Esteban-Jurado C, Ocaña T, Cuatrecasas M, Vila-Casadesús M, Lozano JJ, Parra G, Laurie S, Beltran S; EPICOLON Consortium; Castells A, Bujanda L, Cubiella J, Balaguer F, Castellví-Bel S. Díaz-Gay M, et al. Among authors: bonjoch l. Cancers (Basel). 2019 Mar 13;11(3):362. doi: 10.3390/cancers11030362. Cancers (Basel). 2019. PMID: 30871259 Free PMC article.
Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer.
Toma C, Díaz-Gay M, Franch-Expósito S, Arnau-Collell C, Overs B, Muñoz J, Bonjoch L, Soares de Lima Y, Ocaña T, Cuatrecasas M, Castells A, Bujanda L, Balaguer F, Cubiella J, Caldés T, Fullerton JM, Castellví-Bel S. Toma C, et al. Among authors: bonjoch l. Int J Cancer. 2020 Mar 15;146(6):1568-1577. doi: 10.1002/ijc.32683. Epub 2019 Nov 6. Int J Cancer. 2020. PMID: 31525256 Free PMC article.
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing.
Toma C, Díaz-Gay M, Soares de Lima Y, Arnau-Collell C, Franch-Expósito S, Muñoz J, Overs B, Bonjoch L, Carballal S, Ocaña T, Cuatrecasas M, Díaz de Bustamante A, Castells A, Bujanda L, Cubiella J, Balaguer F, Rodríguez-Alcalde D, Fullerton JM, Castellví-Bel S. Toma C, et al. Among authors: bonjoch l. Clin Transl Gastroenterol. 2019 Oct;10(10):e00100. doi: 10.14309/ctg.0000000000000100. Clin Transl Gastroenterol. 2019. PMID: 31663907 Free PMC article.
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.
Arnau-Collell C, Soares de Lima Y, Díaz-Gay M, Muñoz J, Carballal S, Bonjoch L, Moreira L, Lozano JJ, Ocaña T, Cuatrecasas M, Díaz de Bustamante A, Castells A, Capellà G, Bujanda L, Cubiella J, Rodríguez-Alcalde D, Balaguer F, Ruiz-Ponte C, Valle L, Moreno V, Castellvi-Bel S. Arnau-Collell C, et al. Among authors: bonjoch l. J Med Genet. 2020 Oct;57(10):677-682. doi: 10.1136/jmedgenet-2019-106374. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170005 Free PMC article.
Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.
Bonjoch L, Franch-Expósito S, Garre P, Belhadj S, Muñoz J, Arnau-Collell C, Díaz-Gay M, Gratacós-Mulleras A, Raimondi G, Esteban-Jurado C, Soares de Lima Y, Herrera-Pariente C, Cuatrecasas M, Ocaña T, Castells A, Fillat C, Capellá G, Balaguer F, Caldés T, Valle L, Castellví-Bel S. Bonjoch L, et al. Gastroenterology. 2020 Jul;159(1):227-240.e7. doi: 10.1053/j.gastro.2020.03.015. Epub 2020 Mar 14. Gastroenterology. 2020. PMID: 32179092 Free article.
Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.
Golubicki M, Bonjoch L, Acuña-Ochoa JG, Díaz-Gay M, Muñoz J, Cuatrecasas M, Ocaña T, Iseas S, Mendez G, Cisterna D, Schubert SA, Nielsen M, van Wezel T, Goldberg Y, Pikarsky E, Robbio J, Roca E, Castells A, Balaguer F, Antelo M, Castellví-Bel S. Golubicki M, et al. Among authors: bonjoch l. JCI Insight. 2020 Sep 17;5(18):e140698. doi: 10.1172/jci.insight.140698. JCI Insight. 2020. PMID: 32841224 Free PMC article.
Identification of New Genes Involved in Germline Predisposition to Early-Onset Gastric Cancer.
Herrera-Pariente C, Capó-García R, Díaz-Gay M, Carballal S, Muñoz J, Llach J, Sánchez A, Bonjoch L, Arnau-Collell C, Soares de Lima Y, Golubicki M, Jung G, Lozano JJ, Castells A, Balaguer F, Bujanda L, Castellví-Bel S, Moreira L. Herrera-Pariente C, et al. Among authors: bonjoch l. Int J Mol Sci. 2021 Jan 28;22(3):1310. doi: 10.3390/ijms22031310. Int J Mol Sci. 2021. PMID: 33525650 Free PMC article.
30 results