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

Table 3 Known pathological mutations of 13 driver genes detected in colorectal cancer

Gene	Mutation	Protein change	rs number in dbSNP/mutation id in COSMIC	Number of mutations, n (%)	Minor allele frequency in cancer	Minor allele frequency in Asian	GMAF
							(global minor allele frequency%)
APC	c.95A>G	p.Asn32Ser	rs539108537	1 (0.97)	0.49%	NA	G = 0.02
	c.646C>T	p.Arg216Stop	rs62619935	1 (0.97)	0.49%	NA	NA
	c.694C>T	p.Arg232Stop	rs397515734	1 (0.97)	0.49%	NA	NA
	c.799G>T	p.Gly267Stop	The UMD-APC mutations database	1 (0.97)	0.49%	NA	NA
	c.832C>T	p.Gln278Stop	The UMD-APC mutations database	1 (0.97)	0.49%	NA	NA
	c.904C>T	p.Arg302Stop	rs137854568	1 (0.97)	0.49%	NA	NA
	c.3907C>T	p.Gln1303Stop	COSM13728	1 (0.97)	0.49%	NA	NA
	c.3914C>A	p.Ala1305Glu	COSM1432302	1 (0.97)	0.49%	NA	NA
	c.3914delC	p.Ala1305Glufs	COSM19687	1 (0.97)	0.49%	NA	NA
	c.3934G>T	p.Gly1312Stop	COSM18817	1 (0.97)	0.49%	NA	NA
	c.3935delG	p.Gly1312Glufs	COSM18796	1 (0.97)	0.49%	NA	NA
	c.3944C>A	p.Ser1315Stop	COSM18777	1 (0.97)	0.49%	NA	NA
	c.3982C>T	p.Gln1328Stop	rs398123121	3 (2.91)	1.46%	NA	NA
	c.4012C>T	p.Gln1338Stop	rs121913327	3 (2.91)	1.46%	NA	NA
	c.4031C>A	p.Ser1344Stop	COSM19135	1 (0.97)	0.49%	NA	NA
BRAF	c.1780G>A	p.Asp594Asn	rs397516896	1 (0.97)	0.49%	NA	NA
	c.1799T>C	p.Val600Glu	rs113488022	3 (2.91)	1.46%	NA	NA
KRAS	c.34G>C	p.Gly12Cys	rs121913530	2 (1.94)	0.97%	NA	NA
	c.34G>T	p.Gly12Ser	rs121913530	2 (1.94)	0.97%	NA	NA
	c.35G>A	p.Gly12Ala	rs121913529	2 (1.94)	0.97%	NA	NA
	c.35G>C	p.Gly12Asp	rs121913529	11 (10.98)	5.34%	NA	NA
	c.35G>T	p.Gly12Val	rs121913529	12 (11.65)	5.83%	NA	NA
	c.38G>C	p.Gly13Asp	rs112445441	5 (4.85)	2.43%	NA	NA
MSH2	c.1480T>C	p.Ser494Pro	rs55653533	1 (0.97)	0.49%	NA	C = 0.02
MUTYH	c.74G>A	p.Gly25Asp	rs75321043	1 (0.97)	0.49%	NA	T = 0.18
PIK3CA	c.1624G>A	p.Glu542Lys	rs121913273	1 (0.97)	0.49%	NA	NA
	c.1633G>A	p.Glu545Lys	rs104886003	1 (0.97)	0.49%	NA	NA
	c.1636C>G	p.Gln546Lys	rs121913286	1 (0.97)	0.49%	NA	NA
	c.3140A>G	p.His1047Arg	rs121913279	2 (1.94)	0.97%	NA	NA
PMS2	c.2437C>T	p.Arg813Trp	rs375968016	1 (0.97)	0.49%	NA	A = 0.02
PTEN	c.19G>T	p.Glu7Stop	COSM5298	1 (0.97)	0.49%	NA	NA
SMAD4	c.1067C>G	p.Pro356Arg	COSM339351	1 (0.97)	0.49%	NA	NA
	c.1069T>C	p.Ser357Pro	COSM189735	1 (0.97)	0.49%	NA	NA
	c.1081C>T	p.Arg361Cys	rs80338963	1 (0.97)	0.49%	NA	NA
TP53	c.318C>G	p.Ser106Arg	COSM45944	1 (0.97)	0.49%	NA	NA
	c.423C>G	p.Cys141Trp	COSM44204	1 (0.97)	0.49%	NA	NA
	c.440T>G	p.Val147Gly	COSM44309	1 (0.97)	0.49%	NA	NA
	c.511G>T	p.Glu171Stop	COSM10996	1 (0.97)	0.49%	NA	NA
	c.514G>T	p.Val172Phe	COSM44240	1 (0.97)	0.49%	NA	NA
	c.524G>A	p.Arg175His	rs28934578	5 (4.85)	2.43%	NA	NA
	c.536A>G	p.His179Arg	COSM10889	1 (0.97)	0.49%	NA	NA
	c.586C>T	p.Arg196Stop	rs397516435	2 (1.94)	0.97%	NA	NA
	c.638G>T	p.Arg213Leu	COSM43650	1 (0.97)	0.49%	NA	NA
	c.646G>A	p.Val216Met	COSM10667	1 (0.97)	0.49%	NA	NA
	c.700T>G	p.Tyr234Asp	COSM43768	1 (0.97)	0.49%	NA	NA
	c.734G>A	p.Gly245Asp	rs121912656	2 (1.94)	0.97%	NA	NA
	c.742C>T	p.Arg248Trp	rs121912651	3 (2.91)	1.46%	NA	NA
	c.761T>G	p.Ile254Ser	COSM45035	1 (0.97)	0.49%	NA	NA
	c.772G>A	p.Glu258Lys	rs121912652	1 (0.97)	0.49%	NA	NA
	c.772G>T	p.Glu258Stop	COSM43568	1 (0.97)	0.49%	NA	NA
	c.817C>T	p.Arg273Cys	rs121913343	1 (0.97)	0.49%	NA	NA
	c.818G>A	p.Arg273His	rs28934576	2 (1.94)	0.97%	NA	T = 0.02
	c.841G>C	p.Asp281His	COSM10943	1 (0.97)	0.49%	NA	NA
	c.844C>T	p.Arg282Trp	rs28934574	5 (4.85)	2.43%	NA	NA
	c.853G>A	p.Glu285Lys	rs112431538	1 (0.97)	0.49%	NA	NA
	c.856G>A	p.Glu286Lys	COSM10726	1 (0.97)	0.49%	NA	NA
	c.857A>G	p.Glu286Gly	COSM43565	1 (0.97)	0.49%	NA	NA
	c.1015G>T	p.Glu339Stop	COSM11286	1 (0.97)	0.49%	NA	NA

NA: Not available.