The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients

@inproceedings{TalsethPalmer2013TheIO,
  title={The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients},
  author={Bente A Talseth-Palmer and Juul Th Wijnen and Eva K Andreassen and Daniel P. Barker and Shantie C. Jagmohan-Changur and Carli M. J. Tops and Cliff J. Meldrum and Allan D. Spigelman and Frederik J Hes and Tom van Wezel and Hans F. A. Vasen and Rodney J. Scott},
  booktitle={Hereditary cancer in clinical practice},
  year={2013}
}
BACKGROUND 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… CONTINUE READING
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Highly Influenced

Meta - analysis of three genome - wide association studies identifies susceptibility loci for colorectal cancer at 1 q 41 , 3 q 26 . 2 , 12 q 13 . 13 and 20 q 13 . 33

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