Table 1 Characterization of the SCCs developed in the KS adult patients of this study. A total series of 91 KS patients is shown, 69 of them previously published and 22 new unpublished cased. SCC: Squamous Cell Carcinoma; WD: Well differentiated; AS: Altered splicing; RT: Reduced transcription. UD: Unpublished data; **: FERMT1 mutation confirmed (manuscript in preparation)

1.

M, 15

c.1718 + 2 T > C

g.6084038A > G

35516

AS

–

[2]

2.

F, 16

c.190G > T

g.6116006C > A

3548

p.E64X

–

UD

3.

M, 17

c.614G > A

g.6110430C > T

9124

p.W205X

–

[7]

4.

M, 17

c.328C > T

g.6115868G > A

3686

p.R110X

–

[12]

5.

M, 18

c.1051G > T

g.6096940C > A

22614

p.E351X

–

[2]

6.

F, 18

c.676dupC

g.6110368dupG

9186

p.Q226PfsX17

–

[2]

7.

M, 18

c.910G > T

g.6097571C > A

21983

p.E304X

–

[2] and [13]

8.

M, 20

g.70250_74168del/ c.-20A > G

g.6116239_ 6120157

g.6122775 T > C

− 3221

p.P381Rfs: PTC/RT

–

[14]

9.

F, 20

c.957 + 1G > A

g.6097523C > T

22031

AS: In intron 7 at donor splice site

–

[15]

10.

M, 22

c.1729delA

g.6079567delT

39987

p.S577AfsX14

–

[2]

11.

F, 23

c.994_995delCA

g.6096996-6096997delTG

22558

p.Q332fsX9

–

[15]

12.

M, 23

**

–

–

–

–

UD

13.

M, 24

c.1161delA

g.6089068delT

30486

p.A388LfsX14

–

[2]

14.

M, 24

c.1161delA

g.6089068delT

30486

p.A388LfsX14

–

[2]

15.

F, 24

c.676dupC

g.6110368dupG

9186

p.Q226PfsX17

–

[2] and [16]

16.

M, 24

c.1139 + 2 T > C / c.889A > G

g.6094937A > G/ g.6097592 T > C

21962

AS/ p.R297G

–

[15]

17.

F, 24

c.910G > T

g.6097571C > A

21983

p.E304X

–

[15]

18.

M, 25

g.-711-1241del

g.6045219_6047230del

g.6088988-6110333del

30566

RT

–

[14] and [17]

19.

M, 25

c.170C > A

g.6116026G > T

3528

p.S57X

–

[2] and [16]

20.

F, 25

g.70250_74168del

g.6116239_ 6120157del

g.6084280del

35274

AS

Large deletion

p.P381Rfs PTC

–

[2]

21.

M, 25

c.676C > T

g.6110368G > A

9186

p.Q226X

–

UD

22.

M, 26

c.1718 + 2 T > C

g.6084038A > G

35516

AS

–

[15] and [18]

23.

M, 26

c.550-551insA

g.6110493-6110494insT

9061

p.S184LfsX1

–

[15]

24.

F, 26

c.676C > T

g.6110368G > A

9186

p.Q226X

–

UD

25.

F, 27

g.70250_74168del

g.6116239_ 6120157del

g.6084280del

35274

Large deletion

p.P381Rfs PTC

–

[2]

26.

M, 27

c.1161delA

g.6089068delT

30486

p.A388LfsX14

–

[2]

27.

M, 27

c.910G > T

g.6097571C > A

21983

p.E304X

–

[15]

28.

F, 28

c.676C > T

g.6110368G > A

9186

p.Q226X

–

UD

29.

F, 29

c.1719-1G > A

g.6079578C > T

39976

AS

–

[2]

30.

F, 29

c.1139 + 740G > A

(IVS9 + 740G > A)

g.6094199C > T

25355

pseudoexon

–

[19]

31.

F, 29

c.889A > G/ c.1139 + 2 T > C

g.6097592 T > C/ g.6094937A > G

21962

AS/ p.R297G

–

[15]

32.

M, 29

c.1718 + 2 T > C

g.6084038A > G

35516

AS

–

[15] and [18]

33.

F, 29

c.550-551insA

g.6110493-6110494insT

9061

p.S184LfsX1

–

[15]

34.

M, 29

c.1383C > A

g.6085276G > T

34278

p.Y461X

–

[15]

35.

F, 29

c.676C > T

g.6110368G > A

9186

p.Q226X

–

UD

36.

F, 30

c.676C > T

g.6110368G > A

9186

p.Q226X

–

UD

37.

F, 31

c.676C > T

g.6110368G > A

9186

p.Q226X

2 SCC: WD& early invasive (dorsal hand, between 4th and 5th fingers)

29

Alive

UD

38.

M, 31

c.550-551insA

g.6110493-6110494insT

9061

p.S184LfsX1

–

[15]

39.

M, 31

c.676C > T

g.6110368G > A

9186

p.Q226X

–

UD

40.

M, 31

c.676C > T

g.6110368G > A

9186

p.Q226X

–

UD

41.

F, 31

**

–

–

–

–

UD

42.

F, 32

c.1714_1715insA

g.6084043-6084044insT

35511

p.V572DfsX4

–

[2]

43.

M, 32

c.550-551insA

g.6110493-6110494insT

9061

p.S184LfsX1

–

[15]

44.

F, 32

c.1383C > A

g.6085276G > T

34278

p.Y461X

–

[15]

45.

F, 32

c.676C > T

g.6110368G > A

9186

p.Q226X

–

UD

46.

M, 32

c.676C > T

g.6110368G > A

9186

p.Q226X

–

UD

47.

F, 33

c.889A > G/ c.1139 + 2 T > C

g.6097592 T > C/ g.6094937A > G

21962

AS/ p.R297G

–

[15]

48.

M, 33

c.328C > T

g.6115868G > A

3686

p.R110X

–

[12]

49.

M, 34

c.958-1G > A

g.6097034C > T

22520

AS

–

[2]

50.

M, 34

c.456dupA

g.6112553dupT

7001

p.D153RfsX4

SCC: WD, early infiltrating, Oral mucosa, extending to tongue, lymph node metastases

33

Deceased at 35 years

[2]

51.

M, 34

c.1718 + 1G > A

g.6084039C > T

35515

AS

–

[2]

52.

M, 34

c.1383C > A

g.6085276G > T

34278

p.Y461X

–

[15]

53.

M, 34

c.676C > T

g.6110368G > A

9186

p.Q226X

–

UD

54.

F, 36

c.1209C > G

g.6089020G > C

30534

p.Y403X

–

Breast cancer

39 years

[2] and [20]

55.

M, 36

c.1176 T > G

g.6089053A > C

30501

p.Y392X

–

[15]

56.

M, 36

c.550-551insA

g.6110493-6110494insT

9061

p.S184LfsX1

–

[15]

57.

M, 36

**

–

–

–

–

UD

58.

M, 37

c.1365–1371 + 3del

g.6087774-6087783del

31780

AS

exon11

–

[2] and [21]

59.

F, 37

c.550-551insA

g.6110493-6110494insT

9061

p.S184LfsX1

–

[15]

60.

M, 37

c.676C > T

g.6110368G > A

9186

p.Q226X

–

UD

61.

M, 39

g.6109607-6112272del

g.6109607-6112272del

9947

Deletion of exon4

–

[15]

62.

F, 40

c.550-551insA

g.6110493-6110494insT

9061

p.S184LfsX1

2 Metastasizing SCC to lymph nodes

Fingers and hand

38

Deceased at 40 years

[15]

63.

M, 40

c.889A > G / c.1139 + 2 T > C

g.6097592 T > C/ g.6094937A > G

21962

AS/ p.R297G

–

[15]

64.

M, 40

c.676C > T

g.6110368G > A

9186

p.Q226X

–

UD

65.

F, 40

c.676C > T

g.6110368G > A

9186

p.Q226X

–

UD

66.

M, 42

c.373delT

g.6115823delA

3731

p.C125AfsX4

–

[2]

67.

M, 42

c.1179G > A

g.6089050C > T

30504

p.W393X

–

UD

68.

F, 43

g.6000982_6009222del

(IVS13_15del)

g.6076879_6084040del

42675

PTC (exon14)

–

[2]

69.

F, 45

g.70250_74168del

g.6116239_ 6120157del

g.6084280del

35274

p.P381Rfs

Large deletion

–

[2]

70.

M, 47

g.6000982_6009222del

(IVS13_15del)

g.6076879_6084040del

42675

PTC (exon14)

–

[2]

71.

M, 47

c.889A > G / c.1139 + 2 T > C

g.6097592 T > C/ g.6094937A > G

21962

AS/ p.R297G

–

[15]

72.

M, 47

**

–

–

–

–

UD

73.

M, 48

c.958-1G > A

g.6097034C > T

22520

AS

2 Infiltrating SCC: WD

Upper Lip and dorsum of the hand

43

Alive

[2] [22]

74.

M, 49

c.676dupC

g.6110368dupG

9186

p.Q226PfsX16

–

UD

75.

M, 50

c.910G > T

g.6097571C > A

21983

p.E304X

Metastasizing and poorly differentiated SCC on the foot.

Diffuse metastases (skin & lung)

48 years

Deceased at 50 years

[2]

76.

M, 50

c.958-1G > A

g.6097034C > T

22520

AS

–

[2]

77.

M, 51

c.889A > G / c.1139 + 2 T > C

g.6097592 T > C/ g.6094937A > G

21962

AS/ p.R297G

–

[15]

78.

M, 52

c.328C > T

g.6115868G > A

3686

p.R110X

Metastasizing SCC to lymph nodes (Lip)

48

Deceased at 52 years

[15]

79.

F, 60

g.6000982_6009222del

(IVS13_15del)

g.6076879_6084040del

42675

Large deletion and PTC in exon14

PTC (exon14)

2 SCC: WD & early invasive

Lower lip and dorsum of the hand

45, 53

Deceased at 60 years

[2], [11] and [23]

80.

F, 56

c.152-2delAGinsCT

g.6116046delinsAG

3508

AS

–

[2]

81.

M, 56

c.299-301del

g.6115895-6115897del

3659

p.R100del

–

[2] and [24]

82.

F, 58

c.96-97delAG

g.6119458-6119459delCT

96

p.R32SfsX63

Poorly differentiated SCC. Left arm

52

Amputation of left arm

[2]

83.

M, 65

c.1209C > G

g.6089020G > C

30534

p.Y403X

1 SCC: WD Invasive, left hand

57

Alive

[2]

84.

M, 59

c.889A > G / c.1139 + 2 T > C

g.6097592 T > C/ g.6094937A > G

21962

AS/ p.R297G

–

[15]

85.

M, 60

c.958-1G > A

g.6097034C > T

22520

AS

Intron7

1–3 Infiltrating SCC, all WD; 4, 5 in situ SCC; 1 upper lip; 2 third right finger; 3 right hand dorsum; 4 lower lip; 5 fourth interdigital space of the left hand

43 (44, 45, 45, 56)

Alive

[2] and [22]

86.

M, 61

c.1139 + 740G > A

(IVS9 + 740G > A)

g.6094199C > T

25355

Pseudoexon

[19]

87.

F, 63

c.1761 T > A

g.6079535A > T

40019

p.Y587X

[25]

88.

M, 65

g.70250_74168del

g.6084280del

35274

p. P381R fsX36

PTC

(large deletion: exons 10 and 11)

Infiltrating SCCs, all WD

1 lower gingival mucosa and regional lymph nodes;

2 scalp;

3 lower lip

52 (53, 55)

Alive

[2]

89.

M, 71

c.862C > T

g.6097619G > A

21935

p.R288X

UD

90.

M, 71

c.328C > T

g.6115868G > A

3686

p.R110X

Multiple in situ SCC:

Hyperkeratotic SCC in situ.

Face and hands.

Start at 50 years

Alive

[2]

91.

F, 79

c.328C > T

g.6115868G > A

3686

p.R110X

Invasive SCC, BCC, in situ SCC.

Face and hands.

Start at 66 years

Alive

[2]