A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.

ABSTRACT:

Background

When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (<2% of all identified mutations), yet the immunohistochemical analysis of tumour samples indicates that approximately 5% of Lynch syndrome cases are caused by PMS2. This disparity is primarily due to complications in the study of this gene caused by interference from pseudogene sequences.

Methods

Using a recently developed method for detecting PMS2 specific mutations, we have screened 99 patients who are likely candidates for PMS2 mutations based on immunohistochemical analysis.

Results

We have identified a frequently occurring frame-shift mutation (c.736_741del6ins11) in 12 ostensibly unrelated Lynch syndrome patients (

SUBMITTER: Clendenning M 

PROVIDER: S-EPMC4339871 | biostudies-literature | 2008 Jun

REPOSITORIES: biostudies-literature