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    1. karim2001khoury 19 Feb 2026
      Investigation of the prevalence and clinical implications of ERBB2 exon 16 skipping mutations in Chinese pan-cancer patients

      [Paper-level Aggregated] PMCID: PMC9859631

      Evidence Type(s): Oncogenic, Predictive, Functional

      Justification: Oncogenic: The text describes various ERBB2 alterations, including ERBB2DeltaEx16 variants, which are suggested to play a role in resistance to targeted therapies, indicating their potential oncogenic nature. Predictive: The presence of specific mutations such as L858R, L755S, D769Y, and others in the context of treatment resistance suggests that these variants may predict response to therapies and disease progression. Functional: The identification of multiple ERBB2 alterations and their association with resistance mechanisms implies that these variants may have functional consequences on the gene's activity and its role in cancer progression.

      Gene→Variant (gene-first): SLTM(79811):D1288N L1195I SLTM(79811):L1195V SLTM(79811):Y1230H ERBB2(2064):c.1899-936_1946+520del ERBB2(2064):D769Y ERBB2(2064):L755S EGFR(1956):L858R ERBB2(2064):c.1899-32_1909del ERBB2(2064):c.1899-2A>G ERBB2(2064):c.1899-880_1946+761del

      Genes: SLTM(79811) ERBB2(2064) EGFR(1956)

      Variants: D1288N L1195I L1195V Y1230H c.1899-936_1946+520del D769Y L755S L858R c.1899-32_1909del c.1899-2A>G c.1899-880_1946+761del

      CIViC paper-level aggregated PMC9859631
    2. karim2001khoury 19 Feb 2026
      P05 was a female patient with EGFR exon 19 deletion-mutant stage IV LUAD with bone metastasis, and ERBB2DeltaEx16 was identified from her plasma sample after progression on osimertinib plus crizotinib ( Table 2 ; Figure

      [Paragraph-level] PMCID: PMC9859631 Section: RESULTS PassageIndex: 12

      Evidence Type(s): Predictive, Oncogenic

      Justification: Predictive: The passage discusses various mutations, including Y1230H, D1288N L1195I, and L1195V, which are described as secondary mutations associated with MET TKI resistance, indicating a correlation with treatment response. Oncogenic: The mention of mutations contributing to resistance against targeted therapies suggests that these variants may play a role in tumor development or progression, particularly in the context of lung cancer.

      Gene→Variant (gene-first): 79811:D1288N L1195I 79811:L1195V 79811:Y1230H 2064:c.1899-936_1946+520del

      Genes: 79811 2064

      Variants: D1288N L1195I L1195V Y1230H c.1899-936_1946+520del

      CIViC paragraph-level PMC9859631 Predictive Oncogenic
    3. karim2001khoury 19 Feb 2026
      P03 was a female patient with EGFR L858R-mutant advanced LUAD with bone metastasis. ERBB2DeltaEx16 was detected after disease progression with osimertinib using her plasma samples but not in the paired tissue rebiopsy (

      [Paragraph-level] PMCID: PMC9859631 Section: RESULTS PassageIndex: 11

      Evidence Type(s): Predictive, Oncogenic

      Justification: Predictive: The passage discusses the presence of the EGFR L858R variant in a patient with advanced LUAD and its association with resistance to osimertinib, indicating a correlation with treatment response. Oncogenic: The mention of the EGFR L858R variant and its role in the context of advanced LUAD suggests that it contributes to tumor development or progression, particularly as it is associated with resistance mechanisms.

      Gene→Variant (gene-first): 2064:D769Y 2064:L755S 1956:L858R 2064:c.1899-32_1909del

      Genes: 2064 1956

      Variants: D769Y L755S L858R c.1899-32_1909del

      CIViC paragraph-level PMC9859631 Predictive Oncogenic
    4. karim2001khoury 19 Feb 2026
      Of the 21 unique ERBB2DeltaEx16 variants detected from Chinese patients, 9 involved complete deletion of exon 16, 3 were deletions or point mutations involving splice donors, and 9 deletions or point mutations affecting

      [Paragraph-level] PMCID: PMC9859631 Section: RESULTS PassageIndex: 5

      Evidence Type(s): Diagnostic, Predictive

      Justification: Diagnostic: The passage discusses the detection of ERBB2 variants in patients, indicating their association with specific cases, which supports their use in defining or classifying a disease subtype. Predictive: The mention of the novel variant ERBB2 c.1899-2A>G being detected after treatment suggests a potential correlation with treatment response, indicating its relevance in predicting therapy outcomes.

      Gene→Variant (gene-first): 2064:c.1899-2A>G 2064:c.1899-880_1946+761del

      Genes: 2064

      Variants: c.1899-2A>G c.1899-880_1946+761del

      CIViC paragraph-level PMC9859631 Diagnostic Predictive
    5. karim2001khoury 19 Feb 2026
      P05 was a female patient with EGFR exon 19 deletion-mutant stage IV LUAD with bone metastasis, and ERBB2DeltaEx16 was identified from her plasma sample after progression on osimertinib plus crizotinib ( Table 2 ; Figure

      [Paragraph-level] PMCID: PMC9859631 Section: RESULTS PassageIndex: 12

      Evidence Type(s): Predictive, Oncogenic

      Justification: Predictive: The passage discusses various mutations, including Y1230H, D1288N L1195I, and L1195V, which are described as secondary mutations associated with MET TKI resistance, indicating a correlation with treatment response. Oncogenic: The mention of mutations contributing to resistance against targeted therapies suggests that these variants may play a role in tumor development or progression, particularly in the context of lung cancer.

      Gene→Variant (gene-first): 79811:D1288N L1195I 79811:L1195V 79811:Y1230H 2064:c.1899-936_1946+520del

      Genes: 79811 2064

      Variants: D1288N L1195I L1195V Y1230H c.1899-936_1946+520del

      CIViC paragraph-level PMC9859631 Predictive Oncogenic
    6. karim2001khoury 19 Feb 2026
      P03 was a female patient with EGFR L858R-mutant advanced LUAD with bone metastasis. ERBB2DeltaEx16 was detected after disease progression with osimertinib using her plasma samples but not in the paired tissue rebiopsy (

      [Paragraph-level] PMCID: PMC9859631 Section: RESULTS PassageIndex: 11

      Evidence Type(s): Predictive, Oncogenic

      Justification: Predictive: The passage discusses the presence of the EGFR L858R variant in a patient with advanced LUAD and its association with resistance to osimertinib, indicating a correlation with treatment response. Oncogenic: The mention of the EGFR L858R variant and its role in the context of advanced LUAD suggests that it contributes to tumor development or progression, particularly as it is associated with resistance mechanisms.

      Gene→Variant (gene-first): 2064:D769Y 2064:L755S 1956:L858R 2064:c.1899-32_1909del

      Genes: 2064 1956

      Variants: D769Y L755S L858R c.1899-32_1909del

      CIViC paragraph-level PMC9859631 Predictive Oncogenic
    7. karim2001khoury 19 Feb 2026
      Of the 21 unique ERBB2DeltaEx16 variants detected from Chinese patients, 9 involved complete deletion of exon 16, 3 were deletions or point mutations involving splice donors, and 9 deletions or point mutations affecting

      [Paragraph-level] PMCID: PMC9859631 Section: RESULTS PassageIndex: 5

      Evidence Type(s): Diagnostic, Predictive

      Justification: Diagnostic: The passage discusses the detection of ERBB2 variants in patients, indicating their association with specific cases, which supports their use in defining or classifying a disease subtype. Predictive: The mention of the novel variant ERBB2 c.1899-2A>G being detected after treatment suggests a potential correlation with treatment response, indicating its relevance in predicting therapy outcomes.

      Gene→Variant (gene-first): 2064:c.1899-2A>G 2064:c.1899-880_1946+761del

      Genes: 2064

      Variants: c.1899-2A>G c.1899-880_1946+761del

      CIViC paragraph-level PMC9859631 Diagnostic Predictive
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    pmc.ncbi.nlm.nih.gov/articles/PMC9859631/pdf/fonc-12-1064598.pdf