Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk
Section snippets
Background
Colorectal cancer (CRC) is the leading cause of cancer-related death, second only to lung cancer in developed countries.1, 2 Though fewer than 10% of colorectal adenomas are thought to progress to adenocarcinomas,3 more than 70% of colonic carcinomas are thought to arise within pre-existing sporadic precursors of malignant lesions, adenomatous polyp (adenoma), of the colorectal epithelium.4 Advanced adenoma, associated with the greatest increased risk of CRC, is characterised as large (>1 cm)
Materials and methods
This case-control study was nested within the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, which was designed to evaluate selected methods for the early detection of these cancers and to investigate aetiologic factors and early markers of cancer.53, 54 Participants in the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, ages 55–74 years, were recruited at 10 centres in the United States (Birmingham, AL; Denver, CO; Detroit, MI; Honolulu, HI; Marshfield, WI;
Results
In our nested case-control study from the PLCO cohort (previously described61), cases with advanced distal adenoma tend to be older, less educated, smoke more, have a family history of CRC and consume less folate and calcium (Table 1). The minor allele frequencies of the eight APC SNPs ranged from 2.2% to 48.4% among the non-Hispanic Whites that comprised 94% of the cases and controls (Table 2).
We examined the association between each of the APC SNPs on advanced distal adenoma risk (Table 3).
Discussion
In the largest study to date of APC common variants and advanced colorectal adenoma risk, our single locus and haplotype data do not support the role of common polymorphisms in APC in colorectal development. No statistically significant associations were observed between any of the eight APC SNPs examined and advanced distal adenomas. One rare ‘at-risk’ haplotype was over-represented in advanced distal adenoma cases as compared to controls (2.7% in cases versus 1.6% in controls), no other
Conflict of interest statement
None declared.
Acknowledgements
This research was supported by the Intramural Research Program of the National Institutes of Health, National Cancer Institute, Division of Cancer Epidemiology and Genetics. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services nor does mention of trade names, commercial products or organisations imply endorsement by the US Government.
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2020, Journal of ColoproctologyCitation Excerpt :These results also acknowledged our study’s results. A study in relationship with 8 SNPs in APC gene mutations, with respect to environmental factors such as fatty diet and Hormone Replacement Therapy (HRT) was done.29 758 CRC patients were selected after screening with colonoscopy and biopsy confirmation and 767 healthy individuals were included as a control group.