[Paper-level Aggregated] PMCID: PMC4320693

Evidence Type(s): Oncogenic, Prognostic

Justification: Oncogenic: The passage indicates that specific mutations, particularly p.His1047Arg and p.His1047Leu, are associated with distinct phenotypes in a significant proportion of patients, suggesting their role in tumorigenesis. Prognostic: The correlation of specific mutations with phenotypes such as FAO, HHML, and CLOVES syndrome implies that these mutations may provide prognostic information regarding disease manifestation and patient outcomes.

Gene→Variant (gene-first): PIK3CA(5290):C420R PIK3CA(5290):E542K PIK3CA(5290):E545K PIK3CA(5290):H1047L PIK3CA(5290):H1047R PIK3CA(5290):p.Cys420Arg PIK3CA(5290):p.Glu542Lys PIK3CA(5290):p.Glu545Lys PIK3CA(5290):p.His1047Arg PIK3CA(5290):p.His1047Leu

Genes: PIK3CA(5290)

Variants: C420R E542K E545K H1047L H1047R p.Cys420Arg p.Glu542Lys p.Glu545Lys p.His1047Arg p.His1047Leu

[Paragraph-level] PMCID: PMC4320693 Section: RESULTS PassageIndex: 4

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the correlation of specific genotypes with phenotypes, indicating that the variants are associated with defining or classifying certain conditions such as FAO, HHML, or CLOVES syndrome. Oncogenic: The variants mentioned are associated with specific phenotypes that suggest a role in tumor development or progression, particularly in the context of CLOVES syndrome and other related conditions.

Gene→Variant (gene-first): 5290:p.Cys420Arg 5290:p.Glu542Lys 5290:p.Glu545Lys 5290:p.His1047Arg 5290:p.His1047Leu

Genes: 5290

Variants: p.Cys420Arg p.Glu542Lys p.Glu545Lys p.His1047Arg p.His1047Leu

[Paragraph-level] PMCID: PMC4320693 Section: RESULTS PassageIndex: 3

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the frequency of specific mutations in patients, indicating their association with a disease or subtype. Oncogenic: The variants mentioned are likely somatic mutations that contribute to tumor development, as they are described in the context of patient mutations.

Gene→Variant (gene-first): 5290:C420R 5290:E542K 5290:E545K 5290:H1047L 5290:H1047R 5290:p.Cys420Arg 5290:p.Glu542Lys 5290:p.Glu545Lys 5290:p.His1047Arg 5290:p.His1047Leu

Genes: 5290

Variants: C420R E542K E545K H1047L H1047R p.Cys420Arg p.Glu542Lys p.Glu545Lys p.His1047Arg p.His1047Leu