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Novel somatic Missense Mutations in Exon 11 of the KIT Gene are Detected in Melanoma.


ABSTRACT:

Objective

The aim of the present study was to analyze mutations of the mast/stem cell growth factor receptor Kit (KIT) gene in patients with melanoma from Eastern Siberia regions of the Russian Federation.

Methods

KIT gene mutations in exons 11 and 13 were analyzed by Sanger sequencing in 57 tumor samples obtained from patients with KIT-positive melanomas localized in preferable locations.

Result

Mutations were identified in 21% of patients. Among them, multiple mutations were identified in five patients. A total of 18 mutations were observed in the KIT gene, of which three were deletions and fourteen substitution mutations. Age, gender and clinicopathological characteristics of patients with cutaneous KIT-positive melanoma in Eastern Siberia corresponded to the Europ

SUBMITTER: Palkina N 

PROVIDER: S-EPMC10762753 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature