Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients

Table 2 Polymorphisms of 13 driver genes detected in colorectal cancer

Gene	Mutation	Protein change	rs number	Number of mutations, n (%)	Minor allele frequency in cancer	Minor allele frequency in Asian	GMAF
							(global minor allele frequency%)
BMPR1A	c.4C>A	p.Pro2Thr	rs11528010	41(39.81)	19.9%	NA	A = 49.98
MSH2	c.471C>A	p.Gly157=	rs61756463	5 (4.85)	2.43%	NA	A = 0.24
	c.1168C>T	p.Leu390Phe	rs17224367	5 (4.85)	2.43%	T = 0%-4.7%	T = 0.28
	c.1690A>G	p.Thr564Ala	rs55778204	3 (2.91)	1.46%	NA	G = 0.06
MSH6	c.116G>A	p.Gly39Glu	rs1042821	1 (0.97)	0.49%	NA	A = 20.29
	c.3306T>A	p.Thr1102=	rs2020910	41 (39.81)	37.38%	A = 0%-22.9%	A = 4.93
MUTYH	c.1014G>C	p.Gln338His	rs3219489	51 (49.51)	27.67%	C = 45.2%-46.7%	C = 31.35
PMS2	c.59G>A	p.Arg20Gln	rs10254120	10 (9.71)	4.85%	NA	T = 7.57
	c.288C>T	p.Ala96=	rs12532895	58 (56.31)	33.5%	A = 28.2%-36%	A = 11.36
	c.780C>G	p.Ser260=	rs1805319	17 (16.5)	8.25%	G = 4.8%-8%	G = 16.87
	c.1408C>T	p.Pro470Ser	rs1805321	44 (42.72)	21.36%	T = 0%	T = 35.82
	c.1454C>A	p.Thr485Lys	rs1805323	44 (42.72)	21.36%	NA	T = 11.20
	c.1621G>A	p.Lys541Glu	rs2228006	15 (14.56)	7.28%	A = 4.4%-23%	A = 11.68
	c.2253T>C	p.Phe751=	rs1805325	2 (1.94)	0.97%	NA	NA
	c.2324A>G	p.Asn775Ser	rs17420802	8 (7.77)	3.88%	NA	NA
	c.2340C>T	p.Pro780=	rs142230276	8 (7.77)	3.88%	NA	A = 0.12
	c.2570G>C	p.Gly857ala	rs1802683	1 (0.97)	0.49%	NA	NA
TP53	c.215C>G	p.Pro72Arg	rs1042522	78 (75.73)	50%	G = 48.9%-61.4%	G = 45.71