Evaluation of <it>NTHL1</it>, <it>NEIL1</it>, <it>NEIL2</it>, <it>MPG</it>, <it>TDG</it>, <it>UNG </it>and <it>SMUG1 </it>genes in familial colorectal cancer predisposition
<p>Abstract</p> <p>Background</p> <p>The observation that germline mutations in the oxidative DNA damage repair gene <it>MUTYH </it>cause colorectal cancer (CRC) provides strong evidence that dysregulation of the base excision repair (BER) pathway influences...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2006-10-01
|
| Series: | BMC Cancer |
| Online Access: | http://www.biomedcentral.com/1471-2407/6/243 |
| _version_ | 1818491394239496192 |
|---|---|
| author | Chandler Ian Lubbe Steven Vijayakrishnan Jairam Bagratuni Tina Broderick Peter Houlston Richard S |
| author_facet | Chandler Ian Lubbe Steven Vijayakrishnan Jairam Bagratuni Tina Broderick Peter Houlston Richard S |
| author_sort | Chandler Ian |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>The observation that germline mutations in the oxidative DNA damage repair gene <it>MUTYH </it>cause colorectal cancer (CRC) provides strong evidence that dysregulation of the base excision repair (BER) pathway influences disease susceptibility. It is conceivable that germline sequence variation in other BER pathway genes such as <it>NTHL1</it>, <it>NEIL1</it>, <it>NEIL2</it>, <it>MPG</it>, <it>TDG</it>, <it>UNG </it>and <it>SMUG1 </it>also contribute to CRC susceptibility.</p> <p>Methods</p> <p>To evaluate whether sequence variants of <it>NTHL1</it>, <it>NEIL1</it>, <it>NEIL2</it>, <it>MPG</it>, <it>TDG</it>, <it>UNG </it>and <it>SMUG1 </it>genes might act as CRC susceptibility alleles, we screened the coding sequence and intron-exon boundaries of these genes in 94 familial CRC cases in which involvement of known genes had been excluded.</p> <p>Results</p> <p>Three novel missense variants were identified <it>NEIL2 </it>C367A, <it>TDG3 </it>A196G and <it>UNG2 </it>C262T in patients, which were not observed in 188 healthy control DNAs.</p> <p>Conclusion</p> <p>We detected novel germline alterations in <it>NEIL2, TDG </it>and <it>UNG </it>patients with CRC. The results suggest a limited role for <it>NTHL1</it>, <it>NEIL1</it>, <it>NEIL2</it>, <it>MPG</it>, <it>TDG</it>, <it>UNG </it>and <it>SMUG1 </it>in development of CRC.</p> |
| first_indexed | 2024-12-10T17:30:15Z |
| format | Article |
| id | doaj.art-ee3b8a5942964d058c79494008f1caa2 |
| institution | Directory Open Access Journal |
| issn | 1471-2407 |
| language | English |
| last_indexed | 2024-12-10T17:30:15Z |
| publishDate | 2006-10-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cancer |
| spelling | doaj.art-ee3b8a5942964d058c79494008f1caa22022-12-22T01:39:42ZengBMCBMC Cancer1471-24072006-10-016124310.1186/1471-2407-6-243Evaluation of <it>NTHL1</it>, <it>NEIL1</it>, <it>NEIL2</it>, <it>MPG</it>, <it>TDG</it>, <it>UNG </it>and <it>SMUG1 </it>genes in familial colorectal cancer predispositionChandler IanLubbe StevenVijayakrishnan JairamBagratuni TinaBroderick PeterHoulston Richard S<p>Abstract</p> <p>Background</p> <p>The observation that germline mutations in the oxidative DNA damage repair gene <it>MUTYH </it>cause colorectal cancer (CRC) provides strong evidence that dysregulation of the base excision repair (BER) pathway influences disease susceptibility. It is conceivable that germline sequence variation in other BER pathway genes such as <it>NTHL1</it>, <it>NEIL1</it>, <it>NEIL2</it>, <it>MPG</it>, <it>TDG</it>, <it>UNG </it>and <it>SMUG1 </it>also contribute to CRC susceptibility.</p> <p>Methods</p> <p>To evaluate whether sequence variants of <it>NTHL1</it>, <it>NEIL1</it>, <it>NEIL2</it>, <it>MPG</it>, <it>TDG</it>, <it>UNG </it>and <it>SMUG1 </it>genes might act as CRC susceptibility alleles, we screened the coding sequence and intron-exon boundaries of these genes in 94 familial CRC cases in which involvement of known genes had been excluded.</p> <p>Results</p> <p>Three novel missense variants were identified <it>NEIL2 </it>C367A, <it>TDG3 </it>A196G and <it>UNG2 </it>C262T in patients, which were not observed in 188 healthy control DNAs.</p> <p>Conclusion</p> <p>We detected novel germline alterations in <it>NEIL2, TDG </it>and <it>UNG </it>patients with CRC. The results suggest a limited role for <it>NTHL1</it>, <it>NEIL1</it>, <it>NEIL2</it>, <it>MPG</it>, <it>TDG</it>, <it>UNG </it>and <it>SMUG1 </it>in development of CRC.</p>http://www.biomedcentral.com/1471-2407/6/243 |
| spellingShingle | Chandler Ian Lubbe Steven Vijayakrishnan Jairam Bagratuni Tina Broderick Peter Houlston Richard S Evaluation of <it>NTHL1</it>, <it>NEIL1</it>, <it>NEIL2</it>, <it>MPG</it>, <it>TDG</it>, <it>UNG </it>and <it>SMUG1 </it>genes in familial colorectal cancer predisposition BMC Cancer |
| title | Evaluation of <it>NTHL1</it>, <it>NEIL1</it>, <it>NEIL2</it>, <it>MPG</it>, <it>TDG</it>, <it>UNG </it>and <it>SMUG1 </it>genes in familial colorectal cancer predisposition |
| title_full | Evaluation of <it>NTHL1</it>, <it>NEIL1</it>, <it>NEIL2</it>, <it>MPG</it>, <it>TDG</it>, <it>UNG </it>and <it>SMUG1 </it>genes in familial colorectal cancer predisposition |
| title_fullStr | Evaluation of <it>NTHL1</it>, <it>NEIL1</it>, <it>NEIL2</it>, <it>MPG</it>, <it>TDG</it>, <it>UNG </it>and <it>SMUG1 </it>genes in familial colorectal cancer predisposition |
| title_full_unstemmed | Evaluation of <it>NTHL1</it>, <it>NEIL1</it>, <it>NEIL2</it>, <it>MPG</it>, <it>TDG</it>, <it>UNG </it>and <it>SMUG1 </it>genes in familial colorectal cancer predisposition |
| title_short | Evaluation of <it>NTHL1</it>, <it>NEIL1</it>, <it>NEIL2</it>, <it>MPG</it>, <it>TDG</it>, <it>UNG </it>and <it>SMUG1 </it>genes in familial colorectal cancer predisposition |
| title_sort | evaluation of it nthl1 it it neil1 it it neil2 it it mpg it it tdg it it ung it and it smug1 it genes in familial colorectal cancer predisposition |
| url | http://www.biomedcentral.com/1471-2407/6/243 |
| work_keys_str_mv | AT chandlerian evaluationofitnthl1ititneil1ititneil2ititmpgitittdgititungitanditsmug1itgenesinfamilialcolorectalcancerpredisposition AT lubbesteven evaluationofitnthl1ititneil1ititneil2ititmpgitittdgititungitanditsmug1itgenesinfamilialcolorectalcancerpredisposition AT vijayakrishnanjairam evaluationofitnthl1ititneil1ititneil2ititmpgitittdgititungitanditsmug1itgenesinfamilialcolorectalcancerpredisposition AT bagratunitina evaluationofitnthl1ititneil1ititneil2ititmpgitittdgititungitanditsmug1itgenesinfamilialcolorectalcancerpredisposition AT broderickpeter evaluationofitnthl1ititneil1ititneil2ititmpgitittdgititungitanditsmug1itgenesinfamilialcolorectalcancerpredisposition AT houlstonrichards evaluationofitnthl1ititneil1ititneil2ititmpgitittdgititungitanditsmug1itgenesinfamilialcolorectalcancerpredisposition |