[Paper-level Aggregated] PMCID: PMC3141770

Evidence Type(s): Oncogenic

Summary: Mutation: E542K | Summary: The E542K mutation is identified as a somatic variant that contributes to tumor development or progression, occurring in a sample from a patient.

Evidence Type: Oncogenic Mutation: H1047R | Summary: The H1047R mutation is a somatic variant associated with tumor development or progression, found in multiple samples and indicated by its presence in patients with PTEN loss, suggesting a role in oncogenesis.

Evidence Type: Oncogenic Mutation: T1052A | Summary: The T1052A mutation is a rare somatic variant implicated in tumor development or progression, identified in a single tumor sample.

Gene→Variant (gene-first): PIK3CA(5290):E542K PIK3CA(5290):H1047R PTEN(5728):T1052A

Genes: PIK3CA(5290) PTEN(5728)

Variants: E542K H1047R T1052A

[Paragraph-level] PMCID: PMC3141770 Section: RESULTS PassageIndex: 6

Evidence Type(s): Oncogenic

Summary: Evidence Type: Oncogenic | Mutation: H1047R | Summary: The H1047R mutation is associated with tumor development or progression, as indicated by its presence in patients with PTEN loss, suggesting a role in oncogenesis.

Gene→Variant (gene-first): 5290:H1047R

Genes: 5290

Variants: H1047R

[Paragraph-level] PMCID: PMC3141770 Section: RESULTS PassageIndex: 5

Evidence Type(s): Oncogenic

Summary: Evidence Type: Oncogenic | Mutation: E542K | Summary: The E542K mutation is identified as a somatic variant that contributes to tumor development or progression, occurring in a sample from a patient. Evidence Type: Oncogenic | Mutation: H1047R | Summary: The H1047R mutation is a somatic variant that is associated with tumor development or progression, found in multiple samples. Evidence Type: Oncogenic | Mutation: T1052A | Summary: The T1052A mutation is a rare somatic variant that is implicated in tumor development or progression, identified in a single tumor sample.

Gene→Variant (gene-first): 5290:E542K 5290:H1047R 5728:T1052A

Genes: 5290 5728

Variants: E542K H1047R T1052A

[Paper-level Aggregated] PMCID: PMC3141770

Evidence Type(s): Oncogenic, Prognostic

Justification: Oncogenic: The presence of PIK3CA mutations, specifically H1047R and E542K, is associated with tumorigenesis, as indicated by their occurrence in tumor samples and the context of their mutation hotspots. Prognostic: The study suggests a correlation between PIK3CA mutations and PTEN expression loss, which may have implications for patient outcomes, particularly since a significant portion of patients with the H1047R mutation also exhibited PTEN loss.

Gene→Variant (gene-first): PIK3CA(5290):E542K PIK3CA(5290):H1047R PTEN(5728):T1052A

Genes: PIK3CA(5290) PTEN(5728)

Variants: E542K H1047R T1052A

[Paragraph-level] PMCID: PMC3141770 Section: RESULTS PassageIndex: 6

Evidence Type(s): Oncogenic

Justification: Oncogenic: The passage indicates that the H1047R mutation is associated with PTEN loss in patients, suggesting that it contributes to tumor development or progression.

Gene→Variant (gene-first): 5290:H1047R

Genes: 5290

Variants: H1047R

[Paragraph-level] PMCID: PMC3141770 Section: RESULTS PassageIndex: 5

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the incidence of PIK3CA mutations and their occurrence in specific samples, indicating their association with the disease. Oncogenic: The mention of PIK3CA mutations, including E542K and H1047R, suggests their role in tumor development, as they are described as mutations found in tumor samples.

Gene→Variant (gene-first): 5290:E542K 5290:H1047R 5728:T1052A

Genes: 5290 5728

Variants: E542K H1047R T1052A

[Paragraph-level] PMCID: PMC3141770 Section: RESULTS PassageIndex: 6

Evidence Type(s): Oncogenic

Justification: Oncogenic: The passage indicates that the H1047R mutation is associated with PTEN loss in patients, suggesting that it contributes to tumor development or progression.

Gene→Variant (gene-first): 5290:H1047R

Genes: 5290

Variants: H1047R

[Paragraph-level] PMCID: PMC3141770 Section: RESULTS PassageIndex: 5

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the incidence of PIK3CA mutations and their occurrence in specific samples, indicating their association with the disease. Oncogenic: The mention of PIK3CA mutations, including E542K and H1047R, suggests their role in tumor development, as they are described as mutations found in tumor samples.

Gene→Variant (gene-first): 5290:E542K 5290:H1047R 5728:T1052A

Genes: 5290 5728

Variants: E542K H1047R T1052A