ParkinsonCanadaV1, Main, Exploration, bibRecord, 002363

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

Identifieur interne : 002363 ( Main/Exploration ); précédent : 002362; suivant : 002364

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

Auteurs : M. Clendenning [États-Unis] ; L. Senter [États-Unis] ; H. Hampel [États-Unis] ; K Lagerstedt Robinson [Suède] ; S. Sun [États-Unis] ; D. Buchanan [Australie] ; M D Walsh [Australie] ; M. Nilbert [Suède] ; J. Green [Canada] ; J. Potter [États-Unis] ; A. Lindblom [Suède] ; A. De La Chapelle [États-Unis]

Source :

Journal of Medical Genetics [ 0022-2593 ] ; 2008-06.

RBID : ISTEX:EEDC4C6034ECE20836AF7D765AF4219CE903139D

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 (20% of patients we have identified with a deleterious mutation in PMS2, n = 61). These individuals all display the rare allele (population frequency <0.05) at a single nucleotide polymorphism (SNP) in exon 11, and have been shown to possess a short common haplotype, allowing us to calculate that the mutation arose around 1625 years ago (65 generations; 95% confidence interval 22 to 120). Conclusion: Ancestral analysis indicates that this mutation is enriched in individuals with British and Swedish ancestry. We estimate that there are >10 000 carriers of this mutation in the USA alone. The identification of both the mutation and the common haplotype in one Swedish control sample (n = 225), along with evidence that Lynch syndrome associated cancers are rarer than expected in the probands’ families, would suggest that this is a prevalent mutation with reduced penetrance.

Url:

DOI: 10.1136/jmg.2007.056150

Affiliations:

Le document en format XML

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<front><div type="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 (20% of patients we have identified with a deleterious mutation in PMS2, n = 61). These individuals all display the rare allele (population frequency <0.05) at a single nucleotide polymorphism (SNP) in exon 11, and have been shown to possess a short common haplotype, allowing us to calculate that the mutation arose around 1625 years ago (65 generations; 95% confidence interval 22 to 120). Conclusion: Ancestral analysis indicates that this mutation is enriched in individuals with British and Swedish ancestry. We estimate that there are >10 000 carriers of this mutation in the USA alone. The identification of both the mutation and the common haplotype in one Swedish control sample (n = 225), along with evidence that Lynch syndrome associated cancers are rarer than expected in the probands’ families, would suggest that this is a prevalent mutation with reduced penetrance.</div>
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La maladie de Parkinson au Canada (serveur d'exploration)

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

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

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