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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
Dominguez-Valentin M, Plazzer JP, Sampson JR, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Macrae F, Winship IM, Thomas H, Evans DG, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Sijmons RH, Nielsen M, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Lindblom A, Valle AD, Lopez-Kostner F, Alvarez K, Gluck N, Katz L, Heinimann K, Vaccaro CA, Nakken S, Hovig E, Green K, Lalloo F, Hill J, Vasen HFA, Perne C, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Rahner N, Weitz J, Steinke-Lange V, Schmiegel W, Vangala D, Crosbie EJ, Pineda M, Navarro M, Brunet J, Moreira L, Sánchez A, Serra-Burriel M, Mints M, Kariv R, Rosner G, Piñero TA, Pavicic WH, Kalfayan P, Broeke SWT, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Peltomäki P, Hopper JL, Win AK, Buchanan DD, Lindor NM, Gallinger S, Marchand LL, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Hansen TVO, Lindberg L, Rødland EA, Neffa F, Esperon P, Tjandra D, Möslein G, Seppälä TT, Møller P. Dominguez-Valentin M, et al. Among authors: balaguer f. J Clin Med. 2021 Jun 28;10(13):2856. doi: 10.3390/jcm10132856. J Clin Med. 2021. PMID: 34203177 Free PMC article.
MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer.
Giráldez MD, Balaguer F, Bujanda L, Cuatrecasas M, Muñoz J, Alonso-Espinaco V, Larzabal M, Petit A, Gonzalo V, Ocaña T, Moreira L, Enríquez-Navascués JM, Boland CR, Goel A, Castells A, Castellví-Bel S. Giráldez MD, et al. Among authors: balaguer f. Clin Cancer Res. 2010 Nov 15;16(22):5402-13. doi: 10.1158/1078-0432.CCR-10-1491. Epub 2010 Oct 5. Clin Cancer Res. 2010. PMID: 20924129 Free PMC article.
Novel MLH1 duplication identified in Colombian families with Lynch syndrome.
Alonso-Espinaco V, Giráldez MD, Trujillo C, van der Klift H, Muñoz J, Balaguer F, Ocaña T, Madrigal I, Jones AM, Echeverry MM, Velez A, Tomlinson I, Milà M, Wijnen J, Carvajal-Carmona L, Castells A, Castellví-Bel S. Alonso-Espinaco V, et al. Among authors: balaguer f. Genet Med. 2011 Feb;13(2):155-60. doi: 10.1097/GIM.0b013e318202e10b. Genet Med. 2011. PMID: 21233718 Free article.
Identification of Lynch syndrome among patients with colorectal cancer.
Moreira L, Balaguer F, Lindor N, de la Chapelle A, Hampel H, Aaltonen LA, Hopper JL, Le Marchand L, Gallinger S, Newcomb PA, Haile R, Thibodeau SN, Gunawardena S, Jenkins MA, Buchanan DD, Potter JD, Baron JA, Ahnen DJ, Moreno V, Andreu M, Ponz de Leon M, Rustgi AK, Castells A; EPICOLON Consortium. Moreira L, et al. Among authors: balaguer f. JAMA. 2012 Oct 17;308(15):1555-65. doi: 10.1001/jama.2012.13088. JAMA. 2012. PMID: 23073952 Free PMC article.
[Serrated polyps and serrated polyposis syndrome].
Carballal S, Moreira L, Balaguer F. Carballal S, et al. Among authors: balaguer f. Cir Esp. 2013 Mar;91(3):141-8. doi: 10.1016/j.ciresp.2012.12.001. Epub 2013 Feb 13. Cir Esp. 2013. PMID: 23414940 Review. Spanish.
LINE-1 hypomethylation is neither present in rectal aberrant crypt foci nor associated with field defect in sporadic colorectal neoplasia.
Quintanilla I, Lopez-Cerón M, Jimeno M, Cuatrecasas M, Muñoz J, Moreira L, Carballal S, Leoz ML, Camps J, Castells A, Pellisé M, Balaguer F. Quintanilla I, et al. Among authors: balaguer f. Clin Epigenetics. 2014 Nov 10;6(1):24. doi: 10.1186/1868-7083-6-24. eCollection 2014. Clin Epigenetics. 2014. PMID: 25859284 Free PMC article.
Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer.
Kastrinos F, Ojha RP, Leenen C, Alvero C, Mercado RC, Balmaña J, Valenzuela I, Balaguer F, Green R, Lindor NM, Thibodeau SN, Newcomb P, Win AK, Jenkins M, Buchanan DD, Bertario L, Sala P, Hampel H, Syngal S, Steyerberg EW; Lynch Syndrome prediction model validation study group. Kastrinos F, et al. Among authors: balaguer f. J Natl Cancer Inst. 2015 Nov 18;108(2):djv308. doi: 10.1093/jnci/djv308. Print 2016 Feb. J Natl Cancer Inst. 2015. PMID: 26582061 Free PMC article.
[Hereditary gastric and pancreatic cancer predisposition syndromes].
Leoz ML, Sánchez A, Carballal S, Ruano L, Ocaña T, Pellisé M, Castells A, Balaguer F, Moreira L. Leoz ML, et al. Among authors: balaguer f. Gastroenterol Hepatol. 2016 Aug-Sep;39(7):481-93. doi: 10.1016/j.gastrohep.2015.11.009. Epub 2016 Feb 23. Gastroenterol Hepatol. 2016. PMID: 26916701 Review. Spanish.
231 results