Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

@article{Borrs2013RefiningTR,
  title={Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.},
  author={Ester Borr{\`a}s and Marta Pineda and Juan Cadi{\~n}anos and Jes{\'u}s Del Valle and Angela Brieger and Inga Hinrichsen and Rub{\'e}n Cabanillas and M Asunci{\'o}n Navarro and Joan Brunet and Xavier Sanju{\'a}n and Eva Musul{\'e}n and Helen van der Klift and Conxi L{\'a}zaro and Guido Plotz and Ignacio Blanco and G. Capella},
  journal={Journal of medical genetics},
  year={2013},
  volume={50 8},
  pages={552-63}
}
BACKGROUND AND AIM The majority of mismatch repair (MMR) gene mutations causing Lynch syndrome (LS) occur either in MLH1 or MSH2. However, the relative contribution of PMS2 is less well defined. The aim of this study was to evaluate the role of PMS2 in LS by assessing the pathogenicity of variants of unknown significance (VUS) detected in the mutational analysis of PMS2 in a series of Spanish patients. METHODS From a cohort of 202 LS suspected patients, 13 patients showing loss of PMS2… CONTINUE READING
Related Discussions
This paper has been referenced on Twitter 9 times. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 14 extracted citations

Similar Papers

Loading similar papers…