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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]