Poster 13 - Litika Vermani, Clinical Genetics

Scientific Summary

A new syndrome with an increased risk of colorectal, gastric and/or prostate cancer inherited as a complex disease was suggested in our previous studies. Therefore, a Genome Wide Association Study (GWAS) was conducted on colorectal cancer patients, with prostate-, and/or gastric cancer in their families. A haplotype GWAS analysis was conducted on 685 cases of colorectal cancer and 1642 healthy blood donors from Sweden. A logistic regression model was used, 49 loci were found with p-value of 5E X 10-6 and odds ratio between 1.38-6.52. 
Suggested regions included 2p25.1, 2p25.2 2q33.1, 2q36.3, 2q37.3, 4p14, 4q13.1, 4q13.3, 4q21.21, 4q31.1, 4q31.3, 4q35.1, 5q13.1, 6p21.1, 6q23.2, 6q25.3, 7p14.2, 7p14.1, 7q22.1, 7q35, 8p23.2, 8q24.22, 9p24.3, 9q21.31, 9q21.33, 9q34.2, 10q11.21, 10q26.3, 11q14.2, 12q24.32, 13q12.11, 13q12.3, 13q22.1, 13q33.3, 14q31.3, 14q32.11, 15q13.3, 16p13.2, 16p13.3, 16q23.3, 17p12, 17q12, 17q21.32, 17q25.3, 18q21.2, 19p12, 20q13.33, 21q21.2 and 22q12.2. Within the suggested haplotype regions/loci, many had protein coding genes. Many of the suggested genes within the loci have been previously reported to be involved in different cancers including colorectal, gastric, and prostate cancer. Whole genome and exome sequencing in a subgroup of these cases identified 33 candidate SNPs in 14 loci and out of these 17 SNPs in 11 loci could be tested in MALDI-TOF SNP analysis in a larger cohort of colorectal cases and healthy controls. For 6 of the tested 11 loci (2q33.1, 4q31.1, 4q31.3, 10q11.21, 11q14.2 and 14q32.11) there was a support for an increased risk of colorectal-, gastric-, and/or prostate cancer.
Keywords: cancer syndrome; genome-wide association study; cancer risk; colorectal cancer