Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles

Table 2 Conditional maximum likelihood estimation of the associations between UNC5C variants and risk for colorectal cancer n (%)

Type of cancer	Patients mut/total	Controls mut/total	OR (95%CI)	P value
Variant A628K1
Familial CRCs without MMR mutations	0/120 (0.00)	2/1121 (0.18)	NA	NA
Familial CRCs or Lynch-associated cancers without MMR mutations	1/178 (0.56)	2/1121 (0.18)	3.2 (0.29-35.05)	0.348
Familial CRCs or Lynch-associated cancers with or without MMR mutations	3/310 (0.97)	2/1121 (0.18)	5.5 (0.91-32.87)	0.063
Sporadic CRCs (ASTERISK)	4/1023 (0.39)	2/1121 (0.18)	2.2 (0.40-12.02)	0.364
Familial and sporadic CRCs	7/1333 (0.53)	2/1121 (0.18)	3.0 (0.61-14.25)	0.177
Variants R603C, T617I, A628K, or Q630E2
Familial CRCs without MMR mutations	2/120 (1.67)	37/4300 (0.86)	2.0 (0.47-8.20)	0.3613
Familial CRCs or Lynch-associated cancers without MMR mutations	3/178 (1.69)	37/4300 (0.86)	2.0 (0.60-6.47)	0.2613
Familial CRCs or Lynch-associated cancers with or without MMR mutations	5/310 (1.61)	37/4300 (0.86)	1.9 (0.74-4.84)	0.1853

¹Estimates of the risk associated with variant A628K inferred from genotyping data obtained in patients with familial colorectal or Lynch-associated forms of cancer and in patients with sporadic colorectal cancers (CRCs) and healthy controls from the ASTERISK population;

²Estimates of the risk associated with heterozygosity for variants R603C, T617I, A628K, or Q630E by comparison of the present study familial cancer cases with Caucasian individuals from the NHLBI GO Exome Sequencing Project used as controls Exome Variant Server, NHLBI Exome Sequencing Project (ESP), Seattle, WA [http://evs.gs.washington.edu/EVS/(date 08/2013 accessed)];

³Applying Bonferroni correction, significance threshold was lowered to 0.05/4 = 0.0125. NA: Not available; MMR: Mismatch repair.