Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer
| Autor: | Carlo Della Ragione, Marina De Rosa, Nunzio Mitilini, Paola Izzo, Francesca Duraturo, Raffaella Liccardo |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Genetics congenital hereditary and neonatal diseases and abnormalities nutritional and metabolic diseases MLH3 Biology medicine.disease MLH1 digestive system diseases Lynch syndrome MSH6 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Oncology MSH3 MSH2 030220 oncology & carcinogenesis medicine PMS2 neoplasms Gene |
| Zdroj: | Cancer Management and Research. 11:6719-6725 |
| ISSN: | 1179-1322 |
| Popis: | Background: Lynch syndrome is associated with genetic variants in mismatch repair (MMR) genes. Pathogenic variants in the MLH1 and MSH2 genes occur in most families in which the phenotype is highly penetrant. These testing criteria are likely to miss individuals with Lynch syndrome due to the less penetrant MMR genes, such as MSH6, MLH3, MSH3, and PMS2. So far, several mutations in the PMS2 gene have been described as responsible for the clinical manifestation of Lynch syndrome. Recent data have reported that families with atypical Lynch phenotype were found to have primarily monoallelic mutations in the PMS2 gene. Methods: We analyzed the PMS2 gene to detect mutations in members of 64 Lynch syndrome families by direct sequencing. Results: We report the identification of several genetic variants in patients with LS, of which three are novel variants. The carriers of these novel variants were also carried of other variants in PMS2 gene and/or in other MMR genes. Conclusion: Therefore, we think that these novel PMS2 variants may act in additive manner to manifestation LS phenotype. |
| Databáze: | OpenAIRE |
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