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Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
Schubert SA, Ruano D, Elsayed FA, Boot A, Crobach S, Sarasqueta AF, Wolffenbuttel B, van der Klauw MM, Oosting J, Tops CM, van Eijk R, Vasen HF, Vossen RH, Nielsen M, Castellví-Bel S, Ruiz-Ponte C, Tomlinson I, Dunlop MG, Vodicka P, Wijnen JT, Hes FJ, Morreau H, de Miranda NF, Sijmons RH, van Wezel T. Schubert SA, et al. Br J Cancer. 2017 Sep 5;117(6):1215-1223. doi: 10.1038/bjc.2017.240. Epub 2017 Jul 25. Br J Cancer. 2017. PMID: 28742792 Free PMC article.
Update on genetic predisposition to colorectal cancer and polyposis.
Valle L, de Voer RM, Goldberg Y, Sjursen W, Försti A, Ruiz-Ponte C, Caldés T, Garré P, Olsen MF, Nordling M, Castellvi-Bel S, Hemminki K. Valle L, et al. Mol Aspects Med. 2019 Oct;69:10-26. doi: 10.1016/j.mam.2019.03.001. Epub 2019 Mar 18. Mol Aspects Med. 2019. PMID: 30862463 Free article. Review.
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. Cancers (Basel). 2019 Mar 13;11(3):362. doi: 10.3390/cancers11030362. Cancers (Basel). 2019. PMID: 30871259 Free PMC 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. JCI Insight. 2020 Sep 17;5(18):e140698. doi: 10.1172/jci.insight.140698. JCI Insight. 2020. PMID: 32841224 Free PMC article.
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.
Soares de Lima Y, Arnau-Collell C, Díaz-Gay M, Bonjoch L, Franch-Expósito S, Muñoz J, Moreira L, Ocaña T, Cuatrecasas M, Herrera-Pariente C, Carballal S, Moreno L, Díaz de Bustamante A, Castells A, Bujanda L, Cubiella J, Rodríguez-Alcalde D, Balaguer F, Castellví-Bel S. Soares de Lima Y, et al. Cancers (Basel). 2021 Feb 23;13(4):929. doi: 10.3390/cancers13040929. Cancers (Basel). 2021. PMID: 33672345 Free PMC article.
A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer.
Kedar I, Walsh L, Levi GR, Lieberman S, Shtaya AA, Nathan SN, Lagovsky I, Tomashov-Matar R, Goldenberg M, Basel-Salmon L, Katz L, Aleme O, Peretz TY, Hubert A, Rothstein D, Castellvi-Bel S, Walsh T, King MC, Pritchard CC, Levi Z, Half E, Laish I, Goldberg Y. Kedar I, et al. Fam Cancer. 2022 Apr;21(2):181-188. doi: 10.1007/s10689-021-00249-x. Epub 2021 Apr 10. Fam Cancer. 2022. PMID: 33837488
Identification of Lynch Syndrome Carriers among Patients with Small Bowel Adenocarcinoma.
Sánchez A, Bujanda L, Cuatrecasas M, Bofill A, Alvarez-Urturi C, Hernandez G, Aguilera L, Carballal S, Llach J, Herrera-Pariente C, Iglesias M, Rivero-Sánchez L, Jung G, Moreno L, Ocaña T, Bayarri C, Pellise M, Castells A, Castellví-Bel S, Balaguer F, Moreira L. Sánchez A, et al. Cancers (Basel). 2021 Dec 20;13(24):6378. doi: 10.3390/cancers13246378. Cancers (Basel). 2021. PMID: 34944998 Free PMC article.
191 results