Colorectal Cancer, Susceptibility To, 3

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

APC, CRTC3, BICC1, KCNIP4, SBF2, CABLES2, TMTC1, USHBP1, EFCAB2, UTP23, ACTRT3, SPSB2, TUBA1C, TOX2, SLC22A16, RHPN2, TANC1, TENM3-AS1, BOC, BAALC, TNS3, WWOX, HHIP, ERAP1, L1TD1, TET2, TTC22, GPATCH1, PLEKHG6, ACOXL, CFAP44, MYNN, GNG12, EIF4ENIF1, ZMIZ1, PREX1, DIP2B, ELOVL5, TMBIM1, NXN, BTBD9, SLC25A26, COLCA2, PIGU, CASC8, CDKN2B-AS1, MZF1-AS1, TMEM238L, BAALC-AS1, RTEL1-TNFRSF6B, PCAT1, LINC00446, OBI1-AS1, C5orf66, TMEM220-AS1, CCAT2, CRTC3-AS1, LINC01475, LINC01500, CCND2-AS1, LRP1-AS, LINC01121, LINC00511, COLCA1, RETREG3, PPP1R21, RIPOR3, VTI1A, CBLN2, NEK10, ZNF827, DENND5B, HSPA12A, SLC6A18, ZMIZ1-AS1, MAMSTR, FAM182A, DCBLD1, C11orf53, FMN1, ECT2L, RTEL1, TDP2, SHROOM2, FGFR2, GATA3, GBAP1, GNAS, HLA-B, HLA-F, KCNH1, KRT8, LAMA5, LAMC1, LRP1, LSAMP, SMAD3, SMAD6, SMAD7, SMAD9, MMP2, MTX1, FKBP5, FEN1, LIMA1, ETV6, ATF1, BMP4, BMP5, BRCA2, KLF5, MYRF, TMEM258, CCND2, CDH1, CDH3, CHD1, COL4A2, CYP17A1, DOCK3, LPAR1, EDN1, EPHA5, DRG1, NOS1, NOTCH4, GPR143, ACTR1B, FRY, CLEC3A, POLD3, SCAF8, RALY, PCNX1, PLCH1, MYO16, MACF1, CHRDL2, PNKD, LRIG1, ZBTB20, GREM1, OR1J2, BABAM1, SH2B3, KIAA0355, FADS2, HNF1B, POU5F1B, RAD51B, RNF4, ATXN2, SLCO2A1, SLC22A3, TBX3, TCF7L2, HERC2, TRPC6, MZF1, TFEB, CUBN, SYMPK, FAM193A, RNGTT, LINC01173

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A number sign (#) is used with this entry because of evidence that variants in the SMAD7 gene (602932) influence susceptibility to colorectal cancer.

For a phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500.

Mapping

To identify risk variants for colorectal cancer, Broderick et al. (2007) conducted a genomewide association study, genotyping 550,163 SNPs in 940 individuals with familial colorectal tumors including 627 with colorectal cancer and 313 with advanced adenomas, and 965 controls. They evaluated selected SNPs in 3 replication sample sets (7,473 cases, 5,984 controls) and identified 3 SNPs in the SMAD7 gene associated with colorectal cancer. Across 4 sample sets, the association between rs4939827 and colorectal cancer was highly statistically significant (P = 1.00 x 10(-12)). All 3 SNPs identified in the study mapped to a linkage disequilibrium block within intron 3 of SMAD7.

In the first phase of a genomewide association study to identify colorectal cancer susceptibility alleles, Tomlinson et al. (2008) genotyped 550,163 tagSNPs in 940 familial colorectal tumor cases (627 colorectal cancer cases, 313 high-risk adenoma) and 965 controls. They identified strong association at the same 3 SNPs in intron 3 of the SMAD7 gene identified by Broderick et al. (2007).

In a genomewide association study to identify loci associated with colorectal cancer risk, Tenesa et al. (2008) genotyped 555,510 SNPs in 1,012 early-onset Scottish colorectal cancer cases and 1,012 controls for phase 1. In phase 2, the authors genotyped 15,008 highest-ranked SNPs in 2,057 Scottish cases and 2,111 controls. The authors then genotyped the 5 highest-ranked SNPs from the joint phase 1 and 2 analysis in 14,500 cases and 13,294 controls from 7 populations. They replicated the association of the SNP rs4939827 (odds ratio = 1.2; P = 7.8 x 10(-28)). The risk of rectal cancer was greater than that for colonic cancer for rs4939827.