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. 2019 Jul 24;14:183. doi: 10.1186/s13023-019-1158-6

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 A total series of 91 KS patients is shown, 69 of them previously published and 22 new unpublished cased.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 UD: Unpublished data; **: FERMT1 mutation confirmed (manuscript in preparation)

Pat # Gender & Age Mutation
DNA nucleotide change (cDNA)		 Mutation
(gDNA) in Chromosome 20		 Mutation
(gDNA) in gene FERMT1		 Protein Epithelial Cancer/ Histopathology Cancer onset (Age) Outcome Refs
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]