17 Matching Annotations
  1. Mar 2026
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Untitled document
    9
    1. karimkhoury04 25 Mar 2026
      A novel AKT3 mutation in melanoma tumours and cell lines

      [Paper-level Aggregated] PMCID: PMC2570525

      Evidence Type(s): Functional

      Summary: Mutation: AKT3 (E17K) | Summary: The AKT3 E17K mutation results in the activation of AKT when expressed in human melanoma cells, indicating a change in molecular function. Additionally, the expression of AKT3 E17K in A375 cells increased AKT phosphorylation compared to wild-type AKT3, demonstrating a change in molecular function due to this variant.

      Evidence Type: Functional Mutation: AKT1 (E17K) | Summary: The expression of AKT1 E17K protein in NIH 3T3 cells increased AKT phosphorylation, indicating that this variant alters molecular function.

      Evidence Type: Functional Mutation: E17K | Summary: The E17K mutation is associated with the activation of AKT3, indicating that it alters molecular or biochemical function.

      Gene→Variant (gene-first): NA:AKT3 (E17K) NA:AKT1 (E17K) AKT1(207):E17K

      Genes: NA AKT1(207)

      Variants: AKT3 (E17K) AKT1 (E17K) E17K

      CIViC paper-level aggregated PMC2570525 Functional
    2. karimkhoury04 25 Mar 2026
      A novel AKT3 mutation in melanoma tumours and cell lines

      [Paper-level Aggregated] PMCID: PMC2570525

      Evidence Type(s): Oncogenic

      Summary: Mutation: AKT1 (E17K) | Summary: The AKT1 E17K mutation is reported as an activating mutation contributing to tumor development in breast, ovarian, and colorectal cancers, as well as melanoma. It was identified in a lymph node metastasis, indicating its potential role in tumor development or progression.

      Evidence Type: Oncogenic Mutation: AKT3 (E17K) | Summary: The AKT3 E17K mutation was found in lymph node metastases, suggesting its contribution to tumor development or progression. The mutation is associated with the activation of AKT, indicating a change in molecular function.

      Evidence Type: Oncogenic Mutation: E17K | Summary: The E17K mutation contributes to tumor development or progression through the activation of AKT3.

      Gene→Variant (gene-first): NA:AKT1 (E17K) NA:AKT3 (E17K) AKT1(207):E17K

      Genes: NA AKT1(207)

      Variants: AKT1 (E17K) AKT3 (E17K) E17K

      CIViC paper-level aggregated PMC2570525 Oncogenic
    4. karimkhoury04 25 Mar 2026
      Previous studies demonstrated that expression of AKT1 E17K protein in NIH 3T3 cells increased AKT phosphorylation in those cells. To determine whether the AKT3 E17K mutation results in a similar phenotype, we generated m

      [Paragraph-level] PMCID: PMC2570525 Section: RESULTS PassageIndex: 6

      Evidence Type(s): Functional

      Summary: Evidence Type: Functional | Mutation: AKT1 E17K | Summary: The expression of AKT1 E17K protein in NIH 3T3 cells increased AKT phosphorylation, indicating that this variant alters molecular function. Evidence Type: Functional | Mutation: AKT3 E17K | Summary: The expression of AKT3 E17K in A375 cells also increased AKT phosphorylation compared to wild-type AKT3, demonstrating a change in molecular function due to this variant.

      Gene→Variant (gene-first): 207:AKT1 E17K 207:E17K

      Genes: 207

      Variants: AKT1 E17K E17K

      CIViC paragraph-level PMC2570525 Functional
    5. karimkhoury04 25 Mar 2026
      Activation of AKT3 by the E17K mutation

      [Paragraph-level] PMCID: PMC2570525 Section: RESULTS PassageIndex: 5

      Evidence Type(s): Functional, Oncogenic

      Summary: Evidence Type: Functional | Mutation: E17K | Summary: The E17K mutation is associated with the activation of AKT3, indicating that it alters molecular or biochemical function. Evidence Type: Oncogenic | Mutation: E17K | Summary: The E17K mutation contributes to tumor development or progression through the activation of AKT3.

      Gene→Variant (gene-first): 207:E17K

      Genes: 207

      Variants: E17K

      CIViC paragraph-level PMC2570525 Functional Oncogenic
    6. karimkhoury04 25 Mar 2026
      We performed a similar analysis on genomic DNA isolated from 65 human melanoma cell lines (Supplementary Figure 3). We did not identify any cell lines with AKT1 E17K or AKT2 E17K mutations. However, we identified two cel

      [Paragraph-level] PMCID: PMC2570525 Section: RESULTS PassageIndex: 4

      Evidence Type(s): None

      Summary: Not enough information in this passage.

      Gene→Variant (gene-first): 207:AKT1 E17K 207:E17K

      Genes: 207

      Variants: AKT1 E17K E17K

      CIViC paragraph-level PMC2570525
    7. karimkhoury04 25 Mar 2026
      We analysed melanoma clinical specimens for the presence of mutations in AKT1, AKT2, and AKT3 that result in the E17K mutation identified previously in breast, ovarian, and colorectal cancers. We used mass spectroscopy-b

      [Paragraph-level] PMCID: PMC2570525 Section: RESULTS PassageIndex: 3

      Evidence Type(s): Oncogenic

      Summary: Evidence Type: Oncogenic | Mutation: E17K (AKT1) | Summary: The AKT1 E17K mutation was identified in a lymph node metastasis, indicating its potential role in tumor development or progression. Evidence Type: Oncogenic | Mutation: E17K (AKT3) | Summary: The AKT3 E17K mutation was found in lymph node metastases, suggesting its contribution to tumor development or progression.

      Gene→Variant (gene-first): 207:E17K

      Genes: 207

      Variants: E17K

      CIViC paragraph-level PMC2570525 Oncogenic
    8. karimkhoury04 25 Mar 2026
      Detection of AKT1 E17K and AKT3 E17K mutations in melanoma

      [Paragraph-level] PMCID: PMC2570525 Section: RESULTS PassageIndex: 2

      Evidence Type(s): Diagnostic

      Summary: Evidence Type: Diagnostic | Mutation: AKT1 E17K | Summary: The AKT1 E17K mutation is mentioned in the context of detection in melanoma, suggesting its role in defining or classifying the disease.

      Gene→Variant (gene-first): 207:AKT1 E17K 207:E17K

      Genes: 207

      Variants: AKT1 E17K E17K

      CIViC paragraph-level PMC2570525 Diagnostic
    9. karimkhoury04 25 Mar 2026
      Recently, a rare activating mutation of AKT1 (E17K) has been reported in breast, ovarian, and colorectal cancers. However, analogous activating mutations in AKT2 or AKT3 have not been identified in any cancer lineage. To

      [Paragraph-level] PMCID: PMC2570525 Section: ABSTRACT PassageIndex: 1

      Evidence Type(s): Oncogenic, Functional

      Summary: Evidence Type: Oncogenic | Mutation: AKT1 (E17K) | Summary: The AKT1 E17K mutation is reported as an activating mutation contributing to tumor development in breast, ovarian, and colorectal cancers, as well as melanoma. Evidence Type: Functional | Mutation: AKT3 (E17K) | Summary: The AKT3 E17K mutation results in the activation of AKT when expressed in human melanoma cells, indicating a change in molecular function.

      Gene→Variant (gene-first): 207:AKT1 (E17K 207:E17K

      Genes: 207

      Variants: AKT1 (E17K E17K

      CIViC paragraph-level PMC2570525 Oncogenic Functional
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    pmc.ncbi.nlm.nih.gov/articles/PMC2570525/pdf/6604637a.pdf
  3. Feb 2026
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Untitled document
    8
    1. karim2001khoury 19 Feb 2026
      A novel AKT3 mutation in melanoma tumours and cell lines

      [Paper-level Aggregated] PMCID: PMC2570525

      Evidence Type(s): Oncogenic, Diagnostic, Functional

      Justification: Oncogenic: The AKT1 E17K and AKT3 E17K mutations are described as activating mutations that lead to increased AKT phosphorylation, indicating their role in promoting cancer cell growth and survival. Diagnostic: The study utilized mass spectroscopy-based mutation detection to identify AKT1 E17K and AKT3 E17K mutations in melanoma specimens, demonstrating the potential for these mutations to serve as biomarkers for melanoma diagnosis. Functional: The expression of AKT3 E17K in human melanoma cells resulted in increased AKT phosphorylation, indicating that this mutation has a functional impact on cellular signaling pathways involved in cancer.

      Gene→Variant (gene-first): AKT1(207):AKT1 (E17K AKT1(207):E17K AKT1(207):AKT1 E17K

      Genes: AKT1(207)

      Variants: AKT1 (E17K E17K AKT1 E17K

      CIViC paper-level aggregated PMC2570525
    2. karim2001khoury 19 Feb 2026
      Previous studies demonstrated that expression of AKT1 E17K protein in NIH 3T3 cells increased AKT phosphorylation in those cells. To determine whether the AKT3 E17K mutation results in a similar phenotype, we generated m

      [Paragraph-level] PMCID: PMC2570525 Section: RESULTS PassageIndex: 6

      Evidence Type(s): Functional, Oncogenic

      Justification: Functional: The passage describes how the AKT1 E17K variant alters molecular function by increasing AKT phosphorylation in NIH 3T3 cells and A375 human melanoma cells, indicating a change in biochemical activity. Oncogenic: The evidence suggests that the AKT1 E17K variant contributes to tumor development or progression, as it is expressed in a melanoma cell line and leads to increased AKT phosphorylation, which is often associated with oncogenic processes.

      Gene→Variant (gene-first): 207:AKT1 E17K 207:E17K

      Genes: 207

      Variants: AKT1 E17K E17K

      CIViC paragraph-level PMC2570525 Functional Oncogenic
    4. karim2001khoury 19 Feb 2026
      We performed a similar analysis on genomic DNA isolated from 65 human melanoma cell lines (Supplementary Figure 3). We did not identify any cell lines with AKT1 E17K or AKT2 E17K mutations. However, we identified two cel

      [Paragraph-level] PMCID: PMC2570525 Section: RESULTS PassageIndex: 4

      Evidence Type(s): None

      Justification: Not enough information in this passage.

      Gene→Variant (gene-first): 207:AKT1 E17K 207:E17K

      Genes: 207

      Variants: AKT1 E17K E17K

      CIViC paragraph-level PMC2570525
    5. karim2001khoury 19 Feb 2026
      We analysed melanoma clinical specimens for the presence of mutations in AKT1, AKT2, and AKT3 that result in the E17K mutation identified previously in breast, ovarian, and colorectal cancers. We used mass spectroscopy-b

      [Paragraph-level] PMCID: PMC2570525 Section: RESULTS PassageIndex: 3

      Evidence Type(s): Diagnostic, Oncogenic

      Justification: Diagnostic: The passage discusses the identification of the E17K mutation in clinical specimens, indicating its association with melanoma and its presence in metastatic lesions, which supports its use in defining or classifying the disease. Oncogenic: The E17K mutation is described as being present in metastatic lesions, suggesting that it contributes to tumor development or progression in melanoma.

      Gene→Variant (gene-first): 207:E17K

      Genes: 207

      Variants: E17K

      CIViC paragraph-level PMC2570525 Diagnostic Oncogenic
    6. karim2001khoury 19 Feb 2026
      Detection of AKT1 E17K and AKT3 E17K mutations in melanoma

      [Paragraph-level] PMCID: PMC2570525 Section: RESULTS PassageIndex: 2

      Evidence Type(s): Diagnostic, Oncogenic

      Justification: Diagnostic: The passage mentions the detection of AKT1 E17K mutations in melanoma, indicating that the variant is associated with a specific disease (melanoma). Oncogenic: The mention of AKT1 E17K mutations in the context of melanoma suggests that this somatic variant may contribute to tumor development or progression.

      Gene→Variant (gene-first): 207:AKT1 E17K 207:E17K

      Genes: 207

      Variants: AKT1 E17K E17K

      CIViC paragraph-level PMC2570525 Diagnostic Oncogenic
    7. karim2001khoury 19 Feb 2026
      Recently, a rare activating mutation of AKT1 (E17K) has been reported in breast, ovarian, and colorectal cancers. However, analogous activating mutations in AKT2 or AKT3 have not been identified in any cancer lineage. To

      [Paragraph-level] PMCID: PMC2570525 Section: ABSTRACT PassageIndex: 1

      Evidence Type(s): Diagnostic, Oncogenic, Functional

      Justification: Diagnostic: The passage discusses the identification of the AKT1 (E17K) mutation in various cancer types, indicating its association with melanoma and suggesting its role in defining the presence of this mutation in cancer specimens. Oncogenic: The passage states that the AKT1 E17K mutation is an activating mutation that contributes to tumor development, as evidenced by its identification in melanoma specimens and cell lines, indicating its role in cancer progression. Functional: The passage mentions that the AKT3 E17K mutation results in the activation of AKT when expressed in human melanoma cells, demonstrating a change in molecular function related to the variant.

      Gene→Variant (gene-first): 207:AKT1 (E17K 207:E17K

      Genes: 207

      Variants: AKT1 (E17K E17K

      CIViC paragraph-level PMC2570525 Diagnostic Oncogenic Functional
    8. karim2001khoury 19 Feb 2026
      Recently, a rare activating mutation of AKT1 (E17K) has been reported in breast, ovarian, and colorectal cancers. However, analogous activating mutations in AKT2 or AKT3 have not been identified in any cancer lineage. To

      [Paragraph-level] PMCID: PMC2570525 Section: ABSTRACT PassageIndex: 1

      Evidence Type(s): Diagnostic, Oncogenic, Functional

      Justification: Diagnostic: The passage discusses the identification of the AKT1 (E17K) mutation in various cancer types, indicating its association with melanoma and suggesting its role in defining the presence of this mutation in cancer specimens. Oncogenic: The passage states that the AKT1 E17K mutation is an activating mutation that contributes to tumor development, as evidenced by its identification in melanoma specimens and cell lines, indicating its role in cancer progression. Functional: The passage mentions that the AKT3 E17K mutation results in the activation of AKT when expressed in human melanoma cells, demonstrating a change in molecular function related to the variant.

      Gene→Variant (gene-first): 207:AKT1 (E17K 207:E17K

      Genes: 207

      Variants: AKT1 (E17K E17K

      CIViC paragraph-level PMC2570525 Diagnostic Oncogenic Functional
    Visit annotations in context

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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC2570525/pdf/6604637a.pdf