Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome) by Hendriks Yvonne M C, Jagmohan-Changur Shantie, van der Klift Heleen M, Morreau Hans, van Puijenbroek Marjo, Tops Carli, van Os Theo, Wagner Anja, Ausems Margreet G F M, Gomez Encarna, Breuning Martijn H, Bröcker-Vriends Annette H J T, Vasen Hans F A, Wijnen Juul Th in Gastroenterology (2006).

[PMID: 16472587] PubMed


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.

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