MLH1 methylation screening is effective in identifying epimutation carriers

  title={MLH1 methylation screening is effective in identifying epimutation carriers},
  author={Marta Pineda and Pilar Mur and Mar{\'i}a Dolores Iniesta and Ester Borr{\`a}s and O. B. Campos and Gardenia Vargas and S{\'i}lvia Iglesias and Ana Fern{\'a}ndez and Stephen B. Gruber and Conxi L{\'a}zaro and Joan Brunet and M Asunci{\'o}n Navarro and Ignacio Blanco and G. Capella},
  journal={European Journal of Human Genetics},
Recently, constitutional MLH1 epimutations have been identified in a subset of Lynch syndrome (LS) cases. The aim of this study was the identification of patients harboring constitutional MLH1 epimutations in a set of 34 patients with a clinical suspicion of LS, MLH1-methylated tumors and non-detected germline mutations in mismatch repair (MMR) genes. MLH1 promoter methylation was analyzed in lymphocyte DNA samples by MS-MLPA (Methylation-specific multiplex ligation-dependent probe… CONTINUE READING
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