MLH1 methylation screening is effective in identifying epimutation carriers

@article{Pineda2012MLH1MS,
  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},
  year={2012},
  volume={20},
  pages={1256-1264}
}
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
Recent Discussions
This paper has been referenced on Twitter 1 time over the past 90 days. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 15 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 37 references

MLH 193 G 4 A is a risk factor for MSI colorectal cancer

  • N Whiffin, P Broderick, SJ Lubbe
  • Carcinogenesis
  • 2011

Similar Papers

Loading similar papers…