Gastrointestinal stromal tumor with KIT mutation in neurofibromatosis type 1
[Paper-level Aggregated] PMCID: PMC3219854
Evidence Type(s): Functional
Summary: Mutation: Trp557Gly | Summary: The Trp557Gly mutation alters the molecular function of the KIT protein, which is implicated in the pathogenesis of neurofibromatosis type 1-related gastrointestinal stromal tumors (GISTs).
Gene→Variant (gene-first): KIT(3815):Trp557Gly
Genes: KIT(3815)
Variants: Trp557Gly
Gastrointestinal stromal tumor with KIT mutation in neurofibromatosis type 1
[Paper-level Aggregated] PMCID: PMC3219854
Evidence Type(s): Oncogenic
Summary: Mutation: Trp557Gly | Summary: The Trp557Gly mutation in KIT is identified as a missense point mutation associated with neurofibromatosis type 1-related gastrointestinal stromal tumors (GISTs), indicating its contribution to tumor development.
Gene→Variant (gene-first): KIT(3815):Trp557Gly
Genes: KIT(3815)
Variants: Trp557Gly
Multiple jejunalgastrointestinal stromal tumors (GISTs) were found in a 52-year-old woman with a history of neurofibromatosis type 1. These tumors were composed of interlacing fascicles of uniform spindle cells with eosi
[Paragraph-level] PMCID: PMC3219854 Section: ABSTRACT PassageIndex: 1
Evidence Type(s): Oncogenic, Functional
Summary: Evidence Type: Oncogenic | Mutation: Trp557Gly | Summary: The Trp557Gly mutation in KIT is identified as a missense point mutation associated with neurofibromatosis type 1-related gastrointestinal stromal tumors (GISTs), indicating its contribution to tumor development. Evidence Type: Functional | Mutation: Trp557Gly | Summary: The Trp557Gly mutation alters the molecular function of the KIT protein, which is implicated in the pathogenesis of the tumors described.
Gene→Variant (gene-first): 3815:Trp557Gly
Genes: 3815
Variants: Trp557Gly
Gastrointestinal stromal tumor with KIT mutation in neurofibromatosis type 1
[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
Multiple jejunalgastrointestinal stromal tumors (GISTs) were found in a 52-year-old woman with a history of neurofibromatosis type 1. These tumors were composed of interlacing fascicles of uniform spindle cells with eosi
[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
Multiple jejunalgastrointestinal stromal tumors (GISTs) were found in a 52-year-old woman with a history of neurofibromatosis type 1. These tumors were composed of interlacing fascicles of uniform spindle cells with eosi
[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