Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

@article{Hendriks2006HeterozygousMI,
  title={Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).},
  author={Yvonne M. C. Hendriks and Shantie C. Jagmohan-Changur and Heleen M. van der Klift and Hans Morreau and Marjo van Puijenbroek and Carli M. J. Tops and Theo A van Os and Anja Wagner and Margreet G F M Ausems and Encarna Gomez and Martijn H. Breuning and Annette H. J. T. Br{\"o}cker-Vriends and Hans F. A. Vasen and Juul Th Wijnen},
  journal={Gastroenterology},
  year={2006},
  volume={130 2},
  pages={312-22}
}
BACKGROUND & AIMS The role of the mismatch repair gene PMS2 in hereditary nonpolyposis colorectal carcinoma (HNPCC) is not fully clarified. To date, only 7 different heterozygous truncating PMS2 mutations have been reported in HNPCC-suspected families. Our aim was to further assess the role of PMS2 in HNPCC. METHODS We performed Southern blot analysis in 112 patients from MLH1-, MSH2-, and MSH6-negative HNPCC-like families. A subgroup (n = 38) of these patients was analyzed by denaturing… CONTINUE READING