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The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.
Pinheiro M, Pinto C, Peixoto A, Veiga I, Mesquita B, Henrique R, Lopes P, Sousa O, Fragoso M, Dias LM, Baptista M, Marinho C, Mangold E, Vaccaro C, Evans DG, Farrington S, Dunlop MG, Teixeira MR. Pinheiro M, et al. Among authors: evans dg. Clin Genet. 2013 Sep;84(3):244-50. doi: 10.1111/cge.12062. Epub 2012 Dec 27. Clin Genet. 2013. PMID: 23170986
Recurrent germline mutation in MSH2 arises frequently de novo.
Desai DC, Lockman JC, Chadwick RB, Gao X, Percesepe A, Evans DG, Miyaki M, Yuen ST, Radice P, Maher ER, Wright FA, de La Chapelle A. Desai DC, et al. Among authors: evans dg. J Med Genet. 2000 Sep;37(9):646-52. doi: 10.1136/jmg.37.9.646. J Med Genet. 2000. PMID: 10978353 Free PMC article.
1,326 results