[Paper-level Aggregated] PMCID: PMC3219854

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The missense point mutation Trp557Gly in KIT exon 11 was identified in the tumor, indicating a potential role in tumorigenesis, particularly in the context of neurofibromatosis type 1-associated GISTs. Functional: The identification of the Trp557Gly mutation suggests a functional alteration in the KIT protein that may contribute to the development of the tumors, as it is associated with the pathogenesis of GISTs.

Gene→Variant (gene-first): KIT(3815):Trp557Gly

Genes: KIT(3815)

Variants: Trp557Gly

[Paragraph-level] PMCID: PMC3219854 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Oncogenic, Diagnostic

Justification: Oncogenic: The passage describes a missense point mutation (Trp557Gly) identified in the KIT gene associated with neurofibromatosis type 1-related gastrointestinal stromal tumors (GISTs), indicating its contribution to tumor development. Diagnostic: The variant Trp557Gly is mentioned in the context of identifying and characterizing the tumors associated with neurofibromatosis type 1, suggesting its role in defining the disease subtype.

Gene→Variant (gene-first): 3815:Trp557Gly

Genes: 3815

Variants: Trp557Gly

[Paragraph-level] PMCID: PMC3219854 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Oncogenic, Diagnostic

Justification: Oncogenic: The passage describes a missense point mutation (Trp557Gly) identified in the KIT gene associated with neurofibromatosis type 1-related gastrointestinal stromal tumors (GISTs), indicating its contribution to tumor development. Diagnostic: The variant Trp557Gly is mentioned in the context of identifying and characterizing the tumors associated with neurofibromatosis type 1, suggesting its role in defining the disease subtype.

Gene→Variant (gene-first): 3815:Trp557Gly

Genes: 3815

Variants: Trp557Gly