Genetic predisposition to colorectal cancer: Where we stand and future perspectives

Table 6 Genetic variants identified using candidate-gene association studies

Gene	Variant	Frequency in controls	OR (95%CI)	Cumulative evidence of association	Ethnicity
MUTYH	Biallelic mutation	0.01%	10.19 (5.0-22.0)	Strong	Caucasian
MUTYH	G382D (rs36053993)	0.00%	6.49 (2.6-10.4)	Strong	Caucasian
MUTYH	Y165C (rs34612342)	0.01%	3.32 (1.1-9.8)	Strong	Caucasian
APC	I1307K (rs1801155)	6.80%	1.96 (1.4-2.8)	Strong	Ashkenazi
CHEK2	1100delC	0.71%	1.88 (1.3-2.7)	Strong	Caucasian
CHEK2	I157T (rs17879961)	3.91%	1.56 (1.3-1.8)	Strong	Caucasian
MLH1	rs1800734 (promoter)	21.11%	1.51 (1.3-1.7)	Strong	Caucasian
DNMT3B	rs1569686 (promoter)	16.99%	0.57 (0.5-0.7)	Strong	All
GSTM1	Present/null	50.64%	1.10 (1.0-1.2)	Moderate	All
TERT	rs2736100 (intron 2)	49.34%	1.07 (1.0-1.1)	Moderate	Caucasian

Genetic variants identified using candidate-gene association studies, significantly associated with a risk of colorectal cancer in meta-analyses and showing strong and moderate cumulative evidence of association according to Venice criteria and false-positive report probability tests[189].