Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases

doi:10.3748/wjg.v21.i14.4136

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World Journal of Gastroenterology

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World J Gastroenterol. Apr 14, 2015; 21(14): 4136-4149
Published online Apr 14, 2015. doi: 10.3748/wjg.v21.i14.4136

Table 5 Characteristics of 24 variants identified in 19 novel genes likely to play a role in colorectal cancer development

Sample ID	Gene name	Gene/pathway involved	cDNA change	Protein change	rs ID in dbSNP138	MAF (700 Chinese exomes)	MAF (NHLBI ESP)	MAF (1000 genome)
102-1A	ATM	Cancer gene, DNArep	c.1402_1403del	p.Lys468Glufs*18	NR	NR	NR	NR
66-1-1A	PARP1	DNArep	c.758dup	p.Lys254Glufs*6	NR	NR	0.000077	NR
66-1-1A	MAX	Cancer gene	c.181del	p.Leu61Serfs*15	NR	NR	NR	NR
106-2A	BUB1	Cancer gene	c.46C>T	p.Gln16*	NR	NR	NR	NR
149-1A	BUB1	Cancer gene	c.2844del	p.Gln949Argfs*3	NR	NR	NR	NR
165-1A	LIG3	DNArep	c.218del	p.Phe73Serfs*41	NR	NR	NR	NR
54-2A	MCC	Transposon studies	c.1355+1_1355+2ins14	SMM	NR	NR	NR	NR
49-4A	EIF2AK4	GWAS related	c.2214_2215insCGACGA	p.Glu738_Asp739insArgArg	NR	NR	NR	NR
71A	EIF2AK4	GWAS related	c.2214_2215insCGACGA	p.Glu738_Asp739insArgArg	NR	NR	NR	NR
103-1A	EIF2AK4	GWAS related	c.2214_2215insCGACGA	p.Glu738_Asp739insArgArg	NR	NR	NR	NR
108-1A	EIF2AK4	GWAS related	c.2214_2215insCGACGA	p.Glu738_Asp739insArgArg	NR	NR	NR	NR
120-1A	EIF2AK4	GWAS related	c.2214_2215insCGACGA	p.Glu738_Asp739insArgArg	NR	NR	NR	NR
154-1A	EIF2AK4	GWAS related	c.2214_2215insCGACGA	p.Glu738_Asp739insArgArg	NR	NR	NR	NR
164-1A	EIF2AK4	GWAS related	c.2214_2215insCGACGA	p.Glu738_Asp739insArgArg	NR	NR	NR	NR
77-1A	LRP5	WNT	c.2156A>G	p.Tyr719Cys	NR	NR	NR	NR
43-1A	LRP5	WNT	c.3536G>A	p.Arg1179His	NR	NR	0.000077	NR
54-2A	LRP5	WNT	c.3919C>T	p.Arg1307Trp	NR	NR	0.000077	NR
110-1A	RPS6KB2	PI3K/AKT	c.331A>G	p.Lys111Glu	NR	0.00075	NR	NR
43-1A	RPS6KB2	PI3K/AKT	c.683C>A	p.Thr228Asn	rs183360785	NR	NR	0.001
43-1A	RYR2	Somatic mutation gene	c.2701G>A	p.Gly901Ser	NR	NR	NR	NR
103-1A	RYR2	Somatic mutation gene	c.6457A>G	p.Lys2153Glu	NR	NR	NR	NR
102-1A	RYR3	Somatic mutation gene	c.13507G>A	p.Val4503Met	NR	NR	NR	NR
71A	ETV4	Cancer gene	c.991G>A	p.Glu331Lys	NR	NR	NR	NR
103-1A	PRDM1	Cancer gene	c.1499A>G	p.Gln500Arg	rs201512476	NR	NR	0.001
164-1A	TSC2	Cancer gene, PI3K/AKT	c.5200G>A	p.Asp1734Asn	NR	NR	NR	NR
71A	MTOR	PI3K/AKT	c.5857G>T	p.Val1953Leu	NR	0.000714	NR	NR
154-1A	DAAM1	WNT	c.667G>A	p.Val223Met	NR	NR	NR	NR
71A	FZD10	WNT	c.1341C>G	p.Phe447Leu	NR	NR	NR	NR
164-1A	TCF7	WNT	c.572G>T	p.Arg191Met	NR	NR	NR	NR
71A	MAST2	Transposon studies	c.3482A>G	p.Asn1161Ser	NR	NR	0.000077	NR

MAF: Minor allele frequency; NR: Not reported; DNArep: DNA repair pathway; WNT: WNT signaling pathway; SSM: Splice site mutation.

Citation: Zhang JX, Fu L, de Voer RM, Hahn MM, Jin P, Lv CX, Verwiel ET, Ligtenberg MJ, Hoogerbrugge N, Kuiper RP, Sheng JQ, Geurts van Kessel A. Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases. World J Gastroenterol 2015; 21(14): 4136-4149
URL: https://www.wjgnet.com/1007-9327/full/v21/i14/4136.htm
DOI: https://dx.doi.org/10.3748/wjg.v21.i14.4136