Cargando…
National study of colorectal cancer genetics
Approximately, a third of all colorectal cancer (CRC) is due to inherited susceptibility. However, high-risk mutations in APC, the mismatch repair (MMR) genes, MUTYH/MYH, SMAD4, ALK3 and STK11/LKB1 are rare and account for <5% of cases. Much of the remaining variation in genetic risk is likely to...
Autores principales: | , , , , , , , , , |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2007
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2360468/ https://www.ncbi.nlm.nih.gov/pubmed/17895893 http://dx.doi.org/10.1038/sj.bjc.6603997 |
_version_ | 1782153056982401024 |
---|---|
author | Penegar, S Wood, W Lubbe, S Chandler, I Broderick, P Papaemmanuil, E Sellick, G Gray, R Peto, J Houlston, R |
author_facet | Penegar, S Wood, W Lubbe, S Chandler, I Broderick, P Papaemmanuil, E Sellick, G Gray, R Peto, J Houlston, R |
author_sort | Penegar, S |
collection | PubMed |
description | Approximately, a third of all colorectal cancer (CRC) is due to inherited susceptibility. However, high-risk mutations in APC, the mismatch repair (MMR) genes, MUTYH/MYH, SMAD4, ALK3 and STK11/LKB1 are rare and account for <5% of cases. Much of the remaining variation in genetic risk is likely to be explained by combinations of more common gene variants that modestly increase risk. Reliable identification of such ‘low penetrance’ alleles would provide insight into the aetiology of CRC and might highlight potential therapeutic and preventative interventions. In 2003, the National Study of Colorectal Cancer Genetics (NSCCG) was established with the aim of collecting DNA and clinicopathological data from 20 000 CRC cases and a series of spouse/partner controls, thereby creating a unique resource for identifying low-penetrance CRC susceptibility alleles. The National Cancer Research Network (NCRN) adopted NSCCG onto its portfolio of trials and 148 centres in the United Kingdom (UK) are now actively participating. Over 8700 cases and 2185 controls have so far been entered into NSCCG. Our experience in developing NSCCG serves to illustrate how world-class DNA databases for genetic analyses can be rapidly developed in the United Kingdom. |
format | Text |
id | pubmed-2360468 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2007 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-23604682009-09-10 National study of colorectal cancer genetics Penegar, S Wood, W Lubbe, S Chandler, I Broderick, P Papaemmanuil, E Sellick, G Gray, R Peto, J Houlston, R Br J Cancer Epidemiology Approximately, a third of all colorectal cancer (CRC) is due to inherited susceptibility. However, high-risk mutations in APC, the mismatch repair (MMR) genes, MUTYH/MYH, SMAD4, ALK3 and STK11/LKB1 are rare and account for <5% of cases. Much of the remaining variation in genetic risk is likely to be explained by combinations of more common gene variants that modestly increase risk. Reliable identification of such ‘low penetrance’ alleles would provide insight into the aetiology of CRC and might highlight potential therapeutic and preventative interventions. In 2003, the National Study of Colorectal Cancer Genetics (NSCCG) was established with the aim of collecting DNA and clinicopathological data from 20 000 CRC cases and a series of spouse/partner controls, thereby creating a unique resource for identifying low-penetrance CRC susceptibility alleles. The National Cancer Research Network (NCRN) adopted NSCCG onto its portfolio of trials and 148 centres in the United Kingdom (UK) are now actively participating. Over 8700 cases and 2185 controls have so far been entered into NSCCG. Our experience in developing NSCCG serves to illustrate how world-class DNA databases for genetic analyses can be rapidly developed in the United Kingdom. Nature Publishing Group 2007-11-05 2007-09-25 /pmc/articles/PMC2360468/ /pubmed/17895893 http://dx.doi.org/10.1038/sj.bjc.6603997 Text en Copyright © 2007 Cancer Research UK https://creativecommons.org/licenses/by/4.0/This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material.If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Epidemiology Penegar, S Wood, W Lubbe, S Chandler, I Broderick, P Papaemmanuil, E Sellick, G Gray, R Peto, J Houlston, R National study of colorectal cancer genetics |
title | National study of colorectal cancer genetics |
title_full | National study of colorectal cancer genetics |
title_fullStr | National study of colorectal cancer genetics |
title_full_unstemmed | National study of colorectal cancer genetics |
title_short | National study of colorectal cancer genetics |
title_sort | national study of colorectal cancer genetics |
topic | Epidemiology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2360468/ https://www.ncbi.nlm.nih.gov/pubmed/17895893 http://dx.doi.org/10.1038/sj.bjc.6603997 |
work_keys_str_mv | AT penegars nationalstudyofcolorectalcancergenetics AT woodw nationalstudyofcolorectalcancergenetics AT lubbes nationalstudyofcolorectalcancergenetics AT chandleri nationalstudyofcolorectalcancergenetics AT broderickp nationalstudyofcolorectalcancergenetics AT papaemmanuile nationalstudyofcolorectalcancergenetics AT sellickg nationalstudyofcolorectalcancergenetics AT grayr nationalstudyofcolorectalcancergenetics AT petoj nationalstudyofcolorectalcancergenetics AT houlstonr nationalstudyofcolorectalcancergenetics |