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Table 1 List of germline KIT mutations in familial GIST and mastocytosis

From: Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis

Exon

Mutation

GIST

Mastocytosis

Pigmentation

References

8

D419del

Yes

Yes

Normal

Hartmann et al. [54]

9

S451C

No

Yes

Hyperpigmentation

Wang et al. [55]

9

K509I

No

Yes

Normal

Zhang et al. [56]

9

K509I

Yes

Yes

Normal

Speight et al. [57]

9

K509I

No

Yes

Normal

de Melo Campos et al. [58]

9

K509I

No

Yes

Normal

Chan et al. [59]

10

A533D

No

Yes

Normal

Tang et al. [12]

10

M541L

No

Yes

Normal

Foster et al. [60]

11

Y553C

Yes

No

Normal

Nakai et al. [61]

11

W557R

Yes

No

Some patients have hyperpigmentation

Robson et al. [62]

11

W557R

Yes

No

Normal

Hirota et al. [63]

11

V559A

Yes

No

Hyperpigmentation

Maeyama et al. [11]

11

V559A

Yes

One patient has urticaria pigmentosa

Hyperpigmented spots

Beghini et al. [64]

11

V559A

Yes

No

Hyperpigmentation

Kuroda et al. [65]

11

V559A

Yes

One patient has urticaria pigmentosa

Lentigines, malignant melanoma

Li et al. [66]

11

V559A

Yes

No

Normal

Kim et al. [67]

11

V559-560del

Yes

No

Hyperpigmentation

Nishida et al. [68]

11

V560del

Yes

No

Normal

Bamba et al. [69]

11

V560G

Yes

No

Normal

Kang et al. [70]

11

Q575_P577delinsH

Yes

No

Normal

Wozniak et al. [71]

11

L576P

Yes

No

Hyperpigmentation

Neuhann et al. [72]

11

L576_P577insGlnLeu

Yes

No

Hyperpigmentation

Carballo et al. [73]

11

D579del

Yes

No

Normal

Jones et al. [74]

11

D579del

Yes

No

Normal

Tarn et al. [75]

11

D579del

Yes

No

Normal

Lasota et al. [76]

11

D579del

Yes

No

One patient has Hyperpigmentation

Kleinbaum et al. [77]

13

R634 W

No

Yes

Normal

Pollard et al. [78]

13

K642T

Yes

No

Normal

Yamanoi et al. [79]

13

K642E

Yes

No

One patient has nevi, lentigine

Bachet et al. [80]

13

K642E

Yes

No

Normal

Isozaki et al. [81]

13

K642E

Yes

No

Normal

Graham et al. [82]

13

K642E

Yes

No

Some patients have hyperpigmentation; some patients have paradoxical cutaneous depigmentation

Vilain et al. [83]

17

D820Y

Yes

No

Normal

Hirota et al. [84]

17

D820Y

Yes

No

Normal

Veiga et al. [85]

17

D820Y

Yes

No

Normal

O’Riain et al. [86]

17

N822Y

Yes

No

Normal

Thalheimer et al. [87]

17

N822I

No

Yes

Normal

Wasag et al. [88]