[Paper-level Aggregated] PMCID: PMC3461408

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The text identifies the cancer-associated mutations p.His1047Leu and p.His1047Arg in PIK3CA, which are linked to a syndrome characterized by overgrowth, indicating their role in tumorigenesis. Functional: The evidence shows that affected dermal fibroblasts exhibit enhanced phosphatidylinositol-3,4,5-trisphosphate generation and activation of downstream signaling, demonstrating the functional impact of the mutations on PI3K signaling.

Gene→Variant (gene-first): PIK3CA(5290):p.His1047Arg PIK3CA(5290):p.His1047Leu

Genes: PIK3CA(5290)

Variants: p.His1047Arg p.His1047Leu

[Paragraph-level] PMCID: PMC3461408 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The passage discusses the identification of cancer-associated mutations p.His1047Leu and p.His1047Arg in PIK3CA, which are linked to a syndrome characterized by overgrowth, indicating that these somatic variants contribute to tumor development or progression. Functional: The passage describes how affected dermal fibroblasts showed enhanced phosphatidylinositol-3,4,5-trisphosphate (PIP3) generation and activation of downstream signaling, demonstrating that the variants alter molecular or biochemical function.

Gene→Variant (gene-first): 5290:p.His1047Arg 5290:p.His1047Leu

Genes: 5290

Variants: p.His1047Arg p.His1047Leu