Some aspects of molecular diagnostics in Lynch syndrome
<p>Abstract</p> <p>This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key fe...
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| Format: | Article |
| Language: | English |
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BMC
2006-12-01
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| Series: | Hereditary Cancer in Clinical Practice |
| Subjects: | |
| Online Access: | http://www.hccpjournal.com/content/4/4/197 |
| _version_ | 1818111600703307776 |
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| author | Kurzawski Grzegorz |
| author_facet | Kurzawski Grzegorz |
| author_sort | Kurzawski Grzegorz |
| collection | DOAJ |
| description | <p>Abstract</p> <p>This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with <it>MSH2 </it>and <it>MLH1 </it>mutations (Part 1) has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed (Part 2) and applied to study the types of mutations and their prevalence in Poland (Part 3) and the Baltic States (Part 4). A specific feature of these mutations, i.e. presence of recurrent mutations in the majority of affected families with mutations, has suggested the feasibility of effective diagnostics with a single test disclosing all of them. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the <it>NOD2 </it>gene (Part 5).</p> |
| first_indexed | 2024-12-11T03:05:37Z |
| format | Article |
| id | doaj.art-c881732d06714622b8c179c6f8f0562c |
| institution | Directory Open Access Journal |
| issn | 1897-4287 |
| language | English |
| last_indexed | 2024-12-11T03:05:37Z |
| publishDate | 2006-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj.art-c881732d06714622b8c179c6f8f0562c2022-12-22T01:22:58ZengBMCHereditary Cancer in Clinical Practice1897-42872006-12-014419720510.1186/1897-4287-4-4-197Some aspects of molecular diagnostics in Lynch syndromeKurzawski Grzegorz<p>Abstract</p> <p>This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with <it>MSH2 </it>and <it>MLH1 </it>mutations (Part 1) has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed (Part 2) and applied to study the types of mutations and their prevalence in Poland (Part 3) and the Baltic States (Part 4). A specific feature of these mutations, i.e. presence of recurrent mutations in the majority of affected families with mutations, has suggested the feasibility of effective diagnostics with a single test disclosing all of them. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the <it>NOD2 </it>gene (Part 5).</p>http://www.hccpjournal.com/content/4/4/197diagnostic criteriamolecular diagnosticsgermline <it>MSH2 </it>and <it>MLH1 </it>mutations |
| spellingShingle | Kurzawski Grzegorz Some aspects of molecular diagnostics in Lynch syndrome Hereditary Cancer in Clinical Practice diagnostic criteria molecular diagnostics germline <it>MSH2 </it>and <it>MLH1 </it>mutations |
| title | Some aspects of molecular diagnostics in Lynch syndrome |
| title_full | Some aspects of molecular diagnostics in Lynch syndrome |
| title_fullStr | Some aspects of molecular diagnostics in Lynch syndrome |
| title_full_unstemmed | Some aspects of molecular diagnostics in Lynch syndrome |
| title_short | Some aspects of molecular diagnostics in Lynch syndrome |
| title_sort | some aspects of molecular diagnostics in lynch syndrome |
| topic | diagnostic criteria molecular diagnostics germline <it>MSH2 </it>and <it>MLH1 </it>mutations |
| url | http://www.hccpjournal.com/content/4/4/197 |
| work_keys_str_mv | AT kurzawskigrzegorz someaspectsofmoleculardiagnosticsinlynchsyndrome |