7 Matching Annotations
  1. Last 7 days
    1. Gastrointestinal malignancies harbor actionable MET exon 14 deletions

      [Paper-level Aggregated] PMCID: PMC4695055

      Evidence Type(s): Oncogenic, Functional

      Justification: Oncogenic: The presence of the c.3082+811A TTTTAACA > GGTTTGAT mutation in the intron 14 region of the MET gene, along with the confirmation of METex14del cases, suggests a role in cancer development, indicating its potential oncogenic nature. Functional: The mention of qualitative RT-PCR and deep sequencing indicates that the mutation may have functional implications in the context of gene expression and potential alterations in the MET gene's activity.

      Gene→Variant (gene-first): TP53(7157):c.3082+811A TTTTAACA > GGTTTGAT

      Genes: TP53(7157)

      Variants: c.3082+811A TTTTAACA > GGTTTGAT

    2. A total of 3 out of 42 GC patients were METex14del positive (Table 3). All GC cases were MET IHC 3+ and the only case in the series with MET amplification. For example, one case was a 27-year old male patient who present

      [Paragraph-level] PMCID: PMC4695055 Section: RESULTS PassageIndex: 5

      Evidence Type(s): None

      Justification: Not enough information in this passage.

      Gene→Variant (gene-first): 1956:T790M 673:V600E

      Genes: 1956 673

      Variants: T790M V600E

    3. All 13 METex14del cases were further confirmed by qualitative RT-PCR using probes overlapping an exon 13-15 junction, a fusion transcript caused by exon 14 skipping. In all cases, although the absolute Ct (cycles to thre

      [Paragraph-level] PMCID: PMC4695055 Section: RESULTS PassageIndex: 4

      Evidence Type(s): Diagnostic, Oncogenic

      Justification: Diagnostic: The passage indicates that the variant c.3082+811A TTTTAACA > GGTTTGAT is found in all GI cancer samples, suggesting its association with the disease. Oncogenic: The presence of the variant in GI cancer samples implies a potential role in tumor development or progression, as it is discussed in the context of mutations in cancer.

      Gene→Variant (gene-first): 7157:c.3082+811A TTTTAACA > GGTTTGAT

      Genes: 7157

      Variants: c.3082+811A TTTTAACA > GGTTTGAT

    4. The patient cohort from the NEXT-1 trial (NCT02141152), which is an actively enrolling clinical trial for genomic profiling in cancer patients, was used (Figure 1). Of 428 patients enrolled and screened, sufficient RNAs

      [Paragraph-level] PMCID: PMC4695055 Section: RESULTS PassageIndex: 2

      Evidence Type(s): None

      Justification: Not enough information in this passage.

      Gene→Variant (gene-first): 4916:p.982_1028del47

      Genes: 4916

      Variants: p.982_1028del47

    5. A total of 3 out of 42 GC patients were METex14del positive (Table 3). All GC cases were MET IHC 3+ and the only case in the series with MET amplification. For example, one case was a 27-year old male patient who present

      [Paragraph-level] PMCID: PMC4695055 Section: RESULTS PassageIndex: 5

      Evidence Type(s): None

      Justification: Not enough information in this passage.

      Gene→Variant (gene-first): 1956:T790M 673:V600E

      Genes: 1956 673

      Variants: T790M V600E

    6. All 13 METex14del cases were further confirmed by qualitative RT-PCR using probes overlapping an exon 13-15 junction, a fusion transcript caused by exon 14 skipping. In all cases, although the absolute Ct (cycles to thre

      [Paragraph-level] PMCID: PMC4695055 Section: RESULTS PassageIndex: 4

      Evidence Type(s): Diagnostic, Oncogenic

      Justification: Diagnostic: The passage indicates that the variant c.3082+811A TTTTAACA > GGTTTGAT is found in all GI cancer samples, suggesting its association with the disease. Oncogenic: The presence of the variant in GI cancer samples implies a potential role in tumor development or progression, as it is discussed in the context of mutations in cancer.

      Gene→Variant (gene-first): 7157:c.3082+811A TTTTAACA > GGTTTGAT

      Genes: 7157

      Variants: c.3082+811A TTTTAACA > GGTTTGAT

    7. The patient cohort from the NEXT-1 trial (NCT02141152), which is an actively enrolling clinical trial for genomic profiling in cancer patients, was used (Figure 1). Of 428 patients enrolled and screened, sufficient RNAs

      [Paragraph-level] PMCID: PMC4695055 Section: RESULTS PassageIndex: 2

      Evidence Type(s): None

      Justification: Not enough information in this passage.

      Gene→Variant (gene-first): 4916:p.982_1028del47

      Genes: 4916

      Variants: p.982_1028del47