Clinicopathological features of familial adenomatous polyposis in Korean patients

Table 4 Genotype-phenotypic correlations for unrelated Korean patients

Exons (introns, I)	Nucleotide change	AA change	Mutationtype	Age ofdiagnosis	Patient characteristics
					CRC	No. of polyps	CHRPE	PTC	DT
7	778C>T	p.Gln260X	Nonsense	49	No	400
10	1378G>T1	p.Glu460X	Nonsense	21	No	1300	O
10	1381G>T1	p.Glu461X	Nonsense	23	No	400			O
11	1495C>T	p.Arg499X	Nonsense	28	Yes	500
13	1690C>T	p.Arg564X	Nonsense	54	Yes	400
15	2797-2800delAACA	p.Asn933LeufsX21	Frameshift	29	No	300	O
15	2805C>G	p.Tyr935X	Nonsense	32	Yes	600	O	O
15	3183-3187delACAAA	p.Lys1061fsX	Frameshift	28	No	400	O
15	3183-3187delACAAA	p.Lys1061fsX	Frameshift	12	No	800
15	3505-3509delGAGAA	p.Glu1169ThrfsX8	Frameshift	38	No	700	O
15	3523C>T	p.Gln1175X	Nonsense	22	No	1400	O
				20	No	450	O
15	3578delA	p.Gln1193ArgfsX72	Frameshift	34	No	100
15	3595-3596delAA	p.Lys1199GlufsX8	Frameshift	28	No	100	O	O
15	3631-3632delAT	p.Met1211fsX5	Frameshift	31	No	200
15	3709C>T	p.Gln1237X	Nonsense	20	No	100	O
15	3925-3928delGAAA2	p.Glu1309ArgfsX11	Frameshift	30	Yes	200	O	O	O
15	3927-3931delAAAGA2	p.Glu1309AspfsX4	Frameshift	17	Yes	2500
15	4393-4394delAG	p.Ser1465TrpfsX3	Frameshift	31	No	130			O
15	4393-4394delAG	p.Ser1465TrpfsX3	Frameshift	31	No	360			O
15	4519-4520insTGAGCTCA1	p.Ser1507MetfsX6	Frameshift	26	Yes	1000	O
15	4782-4785delAGCC	p.Ala1595ArgfsX54	Frameshift	41	Yes	100
(I 4)	532-2A>C		Splice-site	39	Yes	100
(I 4)	532-2A>C		Splice-site	38	No	100
(I 14)	1958+3A>T1		Splice-site	19	No	740

¹APC mutation identified as novel mutations;

²APC mutation located in MCR. CHRPE: Congenital retinal pigment epithelial hypertrophy; CRC: Colorectal cancer; PTC: Papillary thyroid cancer; DT: Desmoid tumor.