Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).
Hendriks YM, Jagmohan-Changur S, van der Klift HM, Morreau H, van Puijenbroek M, Tops C, van Os T, Wagner A, Ausems MG, Gomez E, Breuning MH, Bröcker-Vriends AH, Vasen HF, Wijnen JT.
Hendriks YM, et al. Among authors: vasen hf.
Gastroenterology. 2006 Feb;130(2):312-22. doi: 10.1053/j.gastro.2005.10.052.
Gastroenterology. 2006.
PMID: 16472587