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Page 1
DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2.
Holinski-Feder E, Müller-Koch Y, Friedl W, Moeslein G, Keller G, Plaschke J, Ballhausen W, Gross M, Baldwin-Jedele K, Jungck M, Mangold E, Vogelsang H, Schackert HK, Lohsea P, Murken J, Meitinger T. Holinski-Feder E, et al. J Biochem Biophys Methods. 2001 Jan 30;47(1-2):21-32. doi: 10.1016/s0165-022x(00)00148-2. J Biochem Biophys Methods. 2001. PMID: 11179758
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Genetic features of Lynch syndrome in the Israeli population.
Goldberg Y, Barnes-Kedar I, Lerer I, Halpern N, Plesser M, Hubert A, Kadouri L, Goldshmidt H, Solar I, Strul H, Rosner G, Baris HN, Peretz T, Levi Z, Kariv R. Goldberg Y, et al. Clin Genet. 2015 Jun;87(6):549-53. doi: 10.1111/cge.12530. Epub 2014 Nov 28. Clin Genet. 2015. PMID: 25430799
Mutation spectrum in HNPCC in the Israeli population.
Goldberg Y, Porat RM, Kedar I, Shochat C, Sagi M, Eilat A, Mendelson S, Hamburger T, Nissan A, Hubert A, Kadouri L, Pikarski E, Lerer I, Abeliovich D, Bercovich D, Peretz T. Goldberg Y, et al. Fam Cancer. 2008;7(4):309-17. doi: 10.1007/s10689-008-9191-y. Epub 2008 Apr 4. Fam Cancer. 2008. PMID: 18389388
Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer.
Latham A, Srinivasan P, Kemel Y, Shia J, Bandlamudi C, Mandelker D, Middha S, Hechtman J, Zehir A, Dubard-Gault M, Tran C, Stewart C, Sheehan M, Penson A, DeLair D, Yaeger R, Vijai J, Mukherjee S, Galle J, Dickson MA, Janjigian Y, O'Reilly EM, Segal N, Saltz LB, Reidy-Lagunes D, Varghese AM, Bajorin D, Carlo MI, Cadoo K, Walsh MF, Weiser M, Aguilar JG, Klimstra DS, Diaz LA Jr, Baselga J, Zhang L, Ladanyi M, Hyman DM, Solit DB, Robson ME, Taylor BS, Offit K, Berger MF, Stadler ZK. Latham A, et al. J Clin Oncol. 2019 Feb 1;37(4):286-295. doi: 10.1200/JCO.18.00283. Epub 2018 Oct 30. J Clin Oncol. 2019. PMID: 30376427 Free PMC article.