NF1 Loss Promotes EGFR Activation and Confers Sensitivity to EGFR Inhibition in NF1-Mutant Melanoma
[Paper-level Aggregated] PMCID: PMC12221223
Evidence Type(s): Oncogenic
Summary: Mutation: C>T | Summary: The C>T mutation contributes to tumor development in the context of NF1Mut melanomas, indicating its role as an oncogenic variant.
Gene→Variant (gene-first): NF1(4763):C>T
Genes: NF1(4763)
Variants: C>T
NF1 Loss Promotes EGFR Activation and Confers Sensitivity to EGFR Inhibition in NF1-Mutant Melanoma
[Paper-level Aggregated] PMCID: PMC12221223
Evidence Type(s): Diagnostic
Summary: Mutation: C>T | Summary: The C>T mutation is characterized as a well-established feature defining cutaneous melanoma, indicating its role in classifying the disease.
Gene→Variant (gene-first): NF1(4763):C>T
Genes: NF1(4763)
Variants: C>T
To identify molecules that could be pharmacologically targeted in NF1Mut melanomas, we first established 32 STCs from subcutaneous, lymph node, and brain metastases of 30 patients with melanoma (Fig. 1A; Supplementary Ta
[Paragraph-level] PMCID: PMC12221223 Section: RESULTS PassageIndex: 3
Evidence Type(s): Diagnostic, Oncogenic
Summary: Evidence Type: Diagnostic | Mutation: C>T | Summary: The C>T mutation is characterized as a well-established feature defining cutaneous melanoma, indicating its role in classifying the disease. Evidence Type: Oncogenic | Mutation: C>T | Summary: The C>T mutation contributes to tumor development in the context of NF1Mut melanomas, supporting its classification as an oncogenic variant.
Gene→Variant (gene-first): 4763:C>T
Genes: 4763
Variants: C>T
NF1 Loss Promotes EGFR Activation and Confers Sensitivity to EGFR Inhibition in NF1-Mutant Melanoma
[Paper-level Aggregated] PMCID: PMC12221223
Evidence Type(s): Oncogenic, Predictive
Justification: Oncogenic: The text describes C>T transitions as characteristic of UV-induced mutations in melanoma, which are well-established features of cutaneous melanoma, indicating a role in tumorigenesis. Predictive: The identification of specific mutations, such as C>T transitions, suggests potential pharmacological targets for treatment in NF1Mut melanomas, indicating a predictive aspect for therapeutic response.
Gene→Variant (gene-first): NF1(4763):C>T
Genes: NF1(4763)
Variants: C>T
To identify molecules that could be pharmacologically targeted in NF1Mut melanomas, we first established 32 STCs from subcutaneous, lymph node, and brain metastases of 30 patients with melanoma (Fig. 1A; Supplementary Ta
[Paragraph-level] PMCID: PMC12221223 Section: RESULTS PassageIndex: 3
Evidence Type(s): Diagnostic, Oncogenic
Justification: Diagnostic: The passage discusses the identification of mutational profiles in melanoma, specifically mentioning that C>T transitions are characterized as cutaneous melanoma-defining features, which indicates a role in classifying or defining the disease. Oncogenic: The mention of C>T transitions as part of the mutational profile in melanoma suggests that these somatic variants contribute to tumor development or progression, particularly in the context of melanoma.
Gene→Variant (gene-first): 4763:C>T
Genes: 4763
Variants: C>T
To identify molecules that could be pharmacologically targeted in NF1Mut melanomas, we first established 32 STCs from subcutaneous, lymph node, and brain metastases of 30 patients with melanoma (Fig. 1A; Supplementary Ta
[Paragraph-level] PMCID: PMC12221223 Section: RESULTS PassageIndex: 3
Evidence Type(s): Diagnostic, Oncogenic
Justification: Diagnostic: The passage discusses the identification of mutational profiles in melanoma, specifically mentioning that C>T transitions are characterized as cutaneous melanoma-defining features, which indicates a role in classifying or defining the disease. Oncogenic: The mention of C>T transitions as part of the mutational profile in melanoma suggests that these somatic variants contribute to tumor development or progression, particularly in the context of melanoma.
Gene→Variant (gene-first): 4763:C>T
Genes: 4763
Variants: C>T