A two-phase case–control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22

Abstract

Background:Colorectal cancer (CRC) is the second cause of cancer-related death in the Western world. Much of the CRC genetic risk remains unidentified and may be attributable to a large number of common, low-penetrance genetic variants. Genetic linkage studies in CRC families have reported additional association with regions 9q22–31, 3q21–24, 7q31, 11q, 14q and 22q. There are several plausible candidate genes for CRC susceptibility within the aforementioned linkage regions including PTCH1, XPA and TGFBR1 in 9q22–31, and EPHB1 and MRAS in 3q21–q24.Methods:CRC cases and matched controls were from EPICOLON, a prospective, multicentre, nationwide Spanish initiative, composed of two independent phases. Phase 1 corresponded to 515 CRC cases and 515 controls, whereas phase 2 consisted of 901 CRC cases and 909 controls. Genotyping was performed for 172 single-nucleotide polymorphisms (SNPs) in 84 genes located within regions 9q22–31 and 3q21–q24.Results:None of the 172 SNPs analysed in our study could be formally associated with CRC risk. However, rs1444601 (TOPBP1) and rs13088006 (CDV3) in region 3q22 showed interesting results and may have an effect on CRC risk.Conclusions:TOPBP1 and CDV3 genetic variants on region 3q22 may modulate CRC risk. Further validation and meta-analysis should be undertaken in larger CRC cohorts.

Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population

“…Worldwide colorectal carcinoma was the third most frequently diagnosed cancer in 2009 [ 2 ] yet it is preventable if diagnosed early. Colorectal cancer risk is attributable to rare germline and or somatic mutations in a variety of tumor suppressor genes, that include APC [ 3 , 4 ], TP53 [ 5 ]; proto-oncogenes, KRAS, BRAF, CTNNB1/beta - catenin, PIK3CA, SRC [ 4 ]; cell cycle regulatory genes FBXW7 [ 4 ]; DNA mismatch repair genes MLH1, MSH2, MSH6, PMS2 [ 6 ], DNA base excision repair genes OGG1 [ 7 ] , MUTYH [ 8 ]; and many other common, low-penetrant genetic variants, which together may be associated with colorectal cancer development [ 9 ].…”

Predictive model for inflammation grades of chronic hepatitis B: Large‐scale analysis of clinical parameters and gene expressions

“…, are reported to significantly correlate with HBx expression 25 and hepatocellular carcinoma (HCC) development [26][27][28]. Interestingly, among 80 significant genes correlated with HBV-DNA, 8 (10%) of them have been reported to correlate with HCC[26][27][28][29][30] or other cancers,22,31,32 indicating that they may also play important roles in the progression from HBV-induced inflammation to HCC. Gene IGHA1, which shares significant positive correlation with HBV-DNA and ALT, is also reported involving in gastric tumorigenesis.…”

A population-based study of hedgehog pathway gene variants in relation to the dual risk of basal cell carcinoma plus another cancer

“…Both identified the same nonsynonymous SNP (codon 1315; rs357564) as potentially being associated with BCC. In a few studies, PTCH SNPs have been studied in relation to noncutaneous malignancies, such as breast [18] and colorectal [19] cancer, with mixed results. The only other hedgehog pathway gene that has been investigated for association with cancer risk is GLI1 , with the results indicating no association between either of the two studied SNPs and BCC [20].…”