Title |
The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients
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Published in |
Hereditary Cancer in Clinical Practice, December 2013
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DOI | 10.1186/1897-4287-11-20 |
Pubmed ID | |
Authors |
Bente A Talseth-Palmer, Juul T Wijnen, Eva K Andreassen, Daniel Barker, Shantie Jagmohan-Changur, Carli M Tops, Cliff Meldrum, The Dutch Cancer Genetics Group, Allan Spigelman, Frederik J Hes, Tom Van Wezel, Hans FA Vasen, Rodney J Scott |
Abstract |
Familial adenomatous polyposis (FAP) is usually characterised by the appearance of hundreds-to-thousands of adenomas throughout the colon and rectum and if left untreated the condition will develop into CRC with close to 100% penetrance. Germline mutations in the APC gene, which plays an integral role in the Wnt-signalling pathway, have been found to be responsible for 70-90% of FAP cases. Several studies suggest that modifier genes may play an important role in the development of CRC and possible modifiers for FAP have been suggested. Interestingly, a study has found that SNPs within ATP5A1 is associated with raised levels of ATP5A1 expression and high expression levels may facilitate CRC development. We aimed to determine if SNPs in ATP5A1 modify the risk of developing CRC/adenomas in FAP patients. |
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