Table 1 Phenotypic features and germline mutations identified in APC-positive patients.

GAL-27

42

>100

No

No

Father: CRC(36) Grandmother: CRC(60)

c.(?_30)_(*220_?)del

Whole allele

[11]

GAL-16

23

100

No

DT OST

NA

c.(?_30)_(*220_?)del

Whole allele

[11]

GAL-14

20

>100

No

?

No

c. 1-?_8532+?del

1 to 15

[12]

GAL-07

50

15

No

No

Affected mother (?)

c.147-150 del ACAA (p.Lys49Asn fs X20)

2

This study

GAL-15

33

>100

No

?

No

c.423-?_531+?del

4

[5]

GAL-11

41

>100

Yes

No

Father: CRC (?)

c.646C>T (p.Arg216X)

6

[13]

GAL-26

15

>100

No

No

Father: FAP+CRC (47)

c.646 C>T (p.Arg216X)

6

[13]

GAL-09

33

12

No

No

No

c.994C>T (p.Arg332X)

9

[5]

GAL-10

64

50

Yes

No

Mother: CRC (68) Aunt: CRC (60)

c.1072C>T (p.Gln358X)

9

[14]

GAL-19

NA

20–50

No

No

Mother: CRC (46)

c.1402 G>T (p.Glu468X)

10

This study

GAL-13

20

>100

Yes

No

No

c.1620_1621dupA (p.Gln541ThrfsX19)

12

[15]

GAL-18

33

>50

No

No

Father: CRC (42)

c.1682dupA (p.Thr562AsnfsX19)

13

[10]

GAL-02

30

0

No

PC

No

c.1756 A>T (p.Lys586X)

14

[16]

GAL-01

23

<100

No

No

Brother: FAP (20s)

c.2413C>T (p.Arg805X)

15

[17]

GAL-17

41

100

Yes

OST

Father CRC (45), Sister CRC (34)

c.2900 del T (p.Val967Ala fs X13)

15

This study

GAL-12

34

<100

No

No

Father: CRC (40s) Uncle: CRC (40s) Grandfather: CRC(40s)

c.3467_3470delAAGA (p.Glu1156GlyfsX8)

15

[18]

GAL-24

52

>100

No

CHRPE

No

c.3927_3931delAAAGA (p.Glu1309AspfsX4)

15

[18]

GAL-04

60

>100

Yes

Others

No

c.4033G>T (p.Glu1345X)

15

[19]

GAL-25

43

>100

Yes

No

NA

c.4219-4220 del AG p.Ser1407X fs X1

15

This study

CAT-12

21

>100

No

No

Mother: FAP+ CRC (49) Sister: FAP (31)

c.(?_30)_(*220_?)del

Whole allele

[11]

CAT-13

20

20–50

No

No

Father: FAP (?) Brother: FAP (?)

c.423-?_531+?del

4

[5]

CAT-01

46

100

Yes

No

Brother: CRC+FAP(53) Brother: CRC+FAP(59)

c.994C>T (p.Arg332X)

9

[5]

CAT-02

32

>100

No

DP

No

c.2934_2935 del AA (p.Gln978His fs X6)

15

This study

CAT-03

38

40–60

No

DT

Father: CRC (46) Brother: FAP

c.3183_3187delACAAA (p.Lys1061LysfsX2)

15

[18]

CAT-04

20

>100

No

No

Mother: FAP + CRC (?) Cousin: CRC (52)

c.3183_3187delACAAA (p.Lys1061LysfsX2)

15

[18]

CAT-05

39

>100

No

DT

Sister: FAP (41)

c.3183_3187delACAAA (p.Lys1061LysfsX2)

15

[18]

CAT-06

38

>100

Yes

No

Brother: FAP Father: FAP + CRC (?)

c.3329C>A (p.Ser1110X)

15

This study

CAT-07

NA

NA

NA

NA

NA

c.3329C>A (p.Ser1110X)

15

This study

CAT-08

27

>100

No

No

Brother: FAP (29) Father: FAP (41) Grandmother: FAP(30)

c.3531 del T (p.Ile1177Met fs X5)

15

This study

CAT-09

NA

NA

NA

DP

NA

c.3631_3632delAT (p.Met1211ValfsX5)

15

[20]

CAT-10

17

>100

No

FGP

Father: FAP (39) Uncle: FAP + CRC (?)

c.3927_3931delAAAGA (p.Glu1309AspfsX4)

15

[18]

CAT-11

32

>100

No

FGP

Father: FAP (39)

Uncle FAP + CRC(63).

Aunt: FAP+ CRC(55)

Grandmother: FAP+CRC(39)

c.3927_3931delAAAGA (p.Glu1309AspfsX4)

15

[18]