[Paper-level Aggregated] PMCID: PMC8033310

Evidence Type(s): Functional

Summary: Mutation: E545K | Summary: The PIK3CA E545K mutation alters cell viability and apoptosis in TNBC cell lines, indicating a change in molecular function related to cell proliferation and survival. It also downregulates Caspase 3 and upregulates Xiap in tumor tissues, affecting apoptosis.

Gene→Variant (gene-first): PIK3CA(5290):E545K

Genes: PIK3CA(5290)

Variants: E545K

[Paper-level Aggregated] PMCID: PMC8033310

Evidence Type(s): Oncogenic

Summary: Mutation: E545K | Summary: The E545K mutation in the PIK3CA gene is associated with tumor development and progression in TNBC cell lines, contributing to increased tumor volume, enhanced aggressiveness, and a migratory phenotype. It promotes growth and inhibits apoptosis, indicating its significant role in tumorigenesis.

Evidence Type: Oncogenic Mutation: H1047R | Summary: The H1047R mutation in the PIK3CA gene is associated with tumor development or progression in TNBC cell lines.

Gene→Variant (gene-first): PIK3CA(5290):E545K PIK3CA(5290):H1047R

Genes: PIK3CA(5290)

Variants: E545K H1047R

[Paper-level Aggregated] PMCID: PMC8033310

Evidence Type(s): Diagnostic

Summary: Mutation: E545K | Summary: The E545K mutation is associated with the diagnosis of invasive cancer in patients with PIK3CA mutations, as indicated by its presence in the cohort studied.

Evidence Type: Diagnostic Mutation: H1047R | Summary: The H1047R mutation is also linked to the diagnosis of invasive cancer in patients with PIK3CA mutations, as observed in the cohort analyzed.

Gene→Variant (gene-first): PIK3CA(5290):E545K PIK3CA(5290):H1047R

Genes: PIK3CA(5290)

Variants: E545K H1047R

[Paper-level Aggregated] PMCID: PMC8033310

Evidence Type(s): Predictive

Summary: Mutation: E545K | Summary: The presence of the PIK3CA E545K mutation correlates with decreased sensitivity to chemotherapy and is associated with induced resistance to chemotherapy in TNBC cells, suggesting it may influence treatment response in TNBC patients.

Gene→Variant (gene-first): PIK3CA(5290):E545K

Genes: PIK3CA(5290)

Variants: E545K

[Paragraph-level] PMCID: PMC8033310 Section: RESULTS PassageIndex: 11

Evidence Type(s): Diagnostic

Summary: Evidence Type: Diagnostic | Mutation: E545K | Summary: The E545K mutation is associated with the diagnosis of invasive cancer in patients with PIK3CA mutations, as indicated by its presence in the cohort studied. Evidence Type: Diagnostic | Mutation: H1047R | Summary: The H1047R mutation is also linked to the diagnosis of invasive cancer in patients with PIK3CA mutations, as observed in the cohort analyzed.

Gene→Variant (gene-first): 5290:E545K 5290:H1047R

Genes: 5290

Variants: E545K H1047R

[Paragraph-level] PMCID: PMC8033310 Section: RESULTS PassageIndex: 6

Evidence Type(s): Predictive, Oncogenic, Functional

Summary: Evidence Type: Predictive | Mutation: E545K | Summary: The PIK3CA E545K mutation is associated with induced resistance to chemotherapy in TNBC cells, suggesting a correlation with treatment response. Evidence Type: Oncogenic | Mutation: E545K | Summary: The PIK3CA E545K mutation contributes to tumor development and progression, as indicated by the increased tumor volume in experimental models. Evidence Type: Functional | Mutation: E545K | Summary: The PIK3CA E545K mutation alters molecular function by downregulating Caspase 3 and upregulating Xiap in tumor tissues, affecting apoptosis.

Gene→Variant (gene-first): 5290:E545K

Genes: 5290

Variants: E545K

[Paragraph-level] PMCID: PMC8033310 Section: RESULTS PassageIndex: 5

Evidence Type(s): Oncogenic, Predictive

Summary: Evidence Type: Oncogenic | Mutation: E545K | Summary: The PIK3CA E545K mutation is associated with promoting growth and inhibiting apoptosis in TNBC cell lines, indicating its role in tumor development and progression. Evidence Type: Predictive | Mutation: E545K | Summary: The presence of the PIK3CA E545K mutation correlates with decreased sensitivity to chemotherapy, suggesting it may influence treatment response in TNBC patients.

Gene→Variant (gene-first): 5290:E545K

Genes: 5290

Variants: E545K

[Paragraph-level] PMCID: PMC8033310 Section: RESULTS PassageIndex: 3

Evidence Type(s): Functional, Oncogenic

Summary: Evidence Type: Functional | Mutation: E545K | Summary: The PIK3CAE545K mutation was shown to alter cell viability and apoptosis in TNBC cell lines, indicating a change in molecular function related to cell proliferation and survival. Evidence Type: Oncogenic | Mutation: E545K | Summary: The PIK3CAE545K mutation contributes to tumor development by enhancing the aggressiveness and migratory phenotype of TNBC cells.

Gene→Variant (gene-first): 5290:E545K

Genes: 5290

Variants: E545K

[Paragraph-level] PMCID: PMC8033310 Section: ABSTRACT PassageIndex: 4

Evidence Type(s): Oncogenic

Summary: Evidence Type: Oncogenic | Mutation: E545K | Summary: The E545K mutation in the PIK3CA gene is associated with tumor development or progression in TNBC cell lines. Evidence Type: Oncogenic | Mutation: H1047R | Summary: The H1047R mutation in the PIK3CA gene is associated with tumor development or progression in TNBC cell lines.

Gene→Variant (gene-first): 5290:E545K 5290:H1047R

Genes: 5290

Variants: E545K H1047R

[Paper-level Aggregated] PMCID: PMC8033310

Evidence Type(s): Oncogenic, Predictive, Prognostic

Justification: Oncogenic: The presence of PIK3CA mutations (E545K and H1047R) in TNBC cell lines was associated with increased cell proliferation and decreased apoptosis, indicating that these mutations contribute to tumorigenesis. Predictive: The study suggests that PIK3CA mutations may alter the sensitivity of TNBC cells to chemotherapy, as cells with these mutations showed decreased sensitivity to epirubicin treatment. Prognostic: The frequency of PIK3CA mutations in patients with TNBC and their association with clinical outcomes, such as chemotherapy response and recurrence, indicates that these mutations may have prognostic implications for patient outcomes.

Gene→Variant (gene-first): PIK3CA(5290):E545K PIK3CA(5290):H1047R

Genes: PIK3CA(5290)

Variants: E545K H1047R

[Paragraph-level] PMCID: PMC8033310 Section: RESULTS PassageIndex: 11

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the frequency of PIK3CA mutations, including E545K and H1047R, in patients with triple-negative breast cancer (TNBC), indicating their association with the diagnosis of invasive cancer. Oncogenic: The presence of PIK3CA mutations, specifically E545K and H1047R, in patients with invasive cancer suggests that these somatic variants contribute to tumor development or progression in the context of TNBC.

Gene→Variant (gene-first): 5290:E545K 5290:H1047R

Genes: 5290

Variants: E545K H1047R

[Paragraph-level] PMCID: PMC8033310 Section: RESULTS PassageIndex: 6

Evidence Type(s): Predictive, Oncogenic

Justification: Predictive: The passage discusses how the PIK3CA mutation, including E545K, induces resistance to chemotherapy, indicating a correlation with treatment response. Oncogenic: The variant E545K is implicated in tumor development and progression, as evidenced by the experimental results showing increased tumor volume in the presence of this mutation.

Gene→Variant (gene-first): 5290:E545K

Genes: 5290

Variants: E545K

[Paragraph-level] PMCID: PMC8033310 Section: RESULTS PassageIndex: 5

Evidence Type(s): Predictive, Oncogenic

Justification: Predictive: The passage discusses how the PIK3CA E545K mutation affects the sensitivity of TNBC cells to chemotherapy, specifically noting that cells with this mutation became less sensitive to the chemotherapeutic agent epirubicin. Oncogenic: The passage indicates that the PIK3CA E545K mutation promotes growth and inhibits apoptosis in TNBC cell lines, suggesting its role in tumor development and progression.

Gene→Variant (gene-first): 5290:E545K

Genes: 5290

Variants: E545K

[Paragraph-level] PMCID: PMC8033310 Section: RESULTS PassageIndex: 3

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The passage discusses how the PIK3CA mutation, including E545K, contributes to enhanced cell proliferation, reduced apoptosis, and increased aggressiveness in TNBC cells, indicating its role in tumor development or progression. Functional: The passage describes how the PIK3CA mutation alters the behavior of TNBC cells, specifically in terms of cell cycle progression and apoptosis, suggesting that the variant affects molecular or biochemical functions.

Gene→Variant (gene-first): 5290:E545K

Genes: 5290

Variants: E545K

[Paragraph-level] PMCID: PMC8033310 Section: ABSTRACT PassageIndex: 4

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The passage discusses the establishment of TNBC cell lines with PIK3CA gene mutations (E545K and H1047R) and their use in in vivo experiments, indicating that these somatic variants contribute to tumor development or progression. Functional: The passage mentions the use of various assays (e.g., western blot, quantitative reverse transcription-polymerase chain reaction) to detect gene and protein expression levels, suggesting that the variants may alter molecular or biochemical function.

Gene→Variant (gene-first): 5290:E545K 5290:H1047R

Genes: 5290

Variants: E545K H1047R

[Paragraph-level] PMCID: PMC8033310 Section: ABSTRACT PassageIndex: 4

Evidence Type(s): Oncogenic, Functional

Justification: Oncogenic: The passage discusses the establishment of TNBC cell lines with PIK3CA gene mutations (E545K and H1047R) and their use in in vivo experiments, indicating that these somatic variants contribute to tumor development or progression. Functional: The passage mentions the use of various assays (e.g., western blot, quantitative reverse transcription-polymerase chain reaction) to detect gene and protein expression levels, suggesting that the variants may alter molecular or biochemical function.

Gene→Variant (gene-first): 5290:E545K 5290:H1047R

Genes: 5290

Variants: E545K H1047R