Table 1 APC germline mutations identified in Greek FAP patients with supportive clinical data

F1195

3

c.340delC

p.Pro114LeufsX11

49

50-100 colorectal polyps

N

symptoms

F1275

4

c.520_523delCCTT

p.Pro174X1

30

50-100 colorectal polyps

N

family member

F75

6

c.694C > T

p.Arg232X

37

50-100 colorectal polyps

N

symptoms

F1270

8

c.835-8 A > G

aberrant splicing of ex. 7

38

100-200 colorectal polyps

N

symptoms

F76

9

c.1234 C > T

p.Gln412X & aberrant splicing of ex. 9

30

30-50 colorectal polyps

N

symptoms

F1196

9

c.1263G > A

p.Trp421X

28

100-1000 colorectal polyps, UGI polyps, desmoids

Y

symptoms

F113

11

c.1495C > T

p.Arg499X

51

100-1000 colorectal polyps

N

symptoms

F741

11

c.1495C > T

p.Arg499X

40

100-200 colorectal polyps

N

symptoms

F880

15A

c.2181_2182insG

p.Asn728GlufsX6

26

100-1000 colorectal polyps

N

family member +symptoms

F160

15B

c.2413 C > T

p.Arg805X

23

100-1000 colorectal polyps, desmoids, thyroid cancer

Y

family member

F1186

15C

c.2701C > T

p.Gln901X

28

100-1000 colorectal polyps

Y

family member +symptoms

F899

15D

c.2821G > T

p.Glu941X

23

50-100 colorectal polyps

N

family

F274

15D

c.2991 T > A

p.Tyr997X

56

100-1000 colorectal polyps

N

symptoms

F474

15D

c.2991 T > A

p.Tyr997X

26

100-1000 colorectal polyps

N

family member

F83

15E

c.3183_3187delACAAA

p.Gln1062FsX1

36

100-1000 colorectal polyps

Y

symptoms

F446

15E

c.3189_3192delTGAG

p.Glu1064LysfsX61

34

100-1000 colorectal polyps

N

family member

F71

15E

c.3214delA

p.Ser1072ValfsX54

35

100-1000 colorectal polyps

N

symptoms

F50

15E

c.3260_3261delTC

p.Leu1087GlnfsX31

23

100-1000 colorectal polyps

N

symptoms

F85

15G

c.3830delT

p.Leu1277TyrfsX11

28

> 1000 colorectal polyps, 150 UGI polyps

N

family member +symptoms

F153

15I

c.4508C > G

p.Ser1503X

48

100-200 colorectal polyps

N

symptoms