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Associations Between Cancer Predisposition Mutations and Clonal Hematopoiesis in Patients With Solid Tumors.
Franch-Expósito S, Mehine M, Ptashkin RN, Bolton KL, Bandlamudi C, Srinivasan P, Zhang L, Goodell MA, Gedvilaite E, Menghrajani K, Sánchez-Vela P, Mandelker D, Comen E, Norton L, Benayed R, Gao T, Papaemmanuil E, Taylor B, Levine R, Offit K, Stadler Z, Berger MF, Zehir A. Franch-Expósito S, et al. JCO Precis Oncol. 2023 Aug;7:e2300070. doi: 10.1200/PO.23.00070. JCO Precis Oncol. 2023. PMID: 37561983
Interplay between chromosomal alterations and gene mutations shapes the evolutionary trajectory of clonal hematopoiesis.
Gao T, Ptashkin R, Bolton KL, Sirenko M, Fong C, Spitzer B, Menghrajani K, Ossa JEA, Zhou Y, Bernard E, Levine M, Martinez JSM, Zhang Y, Franch-Expósito S, Patel M, Braunstein LZ, Kelly D, Yabe M, Benayed R, Caltabellotta NM, Philip J, Paraiso E, Mantha S, Solit DB, Diaz LA Jr, Berger MF, Klimek V, Levine RL, Zehir A, Devlin SM, Papaemmanuil E. Gao T, et al. Among authors: franch exposito s. Nat Commun. 2021 Jan 12;12(1):338. doi: 10.1038/s41467-020-20565-7. Nat Commun. 2021. PMID: 33436578 Free PMC article.
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: franch exposito s. 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.
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
Esteban-Jurado C, Franch-Expósito S, Muñoz J, Ocaña T, Carballal S, López-Cerón M, Cuatrecasas M, Vila-Casadesús M, Lozano JJ, Serra E, Beltran S, Brea-Fernández A, Ruiz-Ponte C, Castells A, Bujanda L, Garre P, Caldés T, Cubiella J, Balaguer F, Castellví-Bel S. Esteban-Jurado C, et al. Eur J Hum Genet. 2016 Oct;24(10):1501-5. doi: 10.1038/ejhg.2016.44. Epub 2016 May 11. Eur J Hum Genet. 2016. PMID: 27165003 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. Among authors: franch exposito s. 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.
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.
Esteban-Jurado C, Vila-Casadesús M, Garre P, Lozano JJ, Pristoupilova A, Beltran S, Muñoz J, Ocaña T, Balaguer F, López-Cerón M, Cuatrecasas M, Franch-Expósito S, Piqué JM, Castells A, Carracedo A, Ruiz-Ponte C, Abulí A, Bessa X, Andreu M, Bujanda L, Caldés T, Castellví-Bel S. Esteban-Jurado C, et al. Genet Med. 2015 Feb;17(2):131-42. doi: 10.1038/gim.2014.89. Epub 2014 Jul 24. Genet Med. 2015. PMID: 25058500 Free PMC article.
Somatic mutational signatures in polyposis and colorectal cancer.
Grolleman JE, Díaz-Gay M, Franch-Expósito S, Castellví-Bel S, de Voer RM. Grolleman JE, et al. Mol Aspects Med. 2019 Oct;69:62-72. doi: 10.1016/j.mam.2019.05.002. Epub 2019 May 23. Mol Aspects Med. 2019. PMID: 31108140 Free article. Review.
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