5 Matching Annotations
  1. Last 7 days
    1. Correlations of EGFR mutations and increases in EGFR and HER2 copy number to gefitinib response in a retrospective analysis of lung cancer patients

      [Paper-level Aggregated] PMCID: PMC1952070

      Evidence Type(s): Oncogenic, Predictive

      Justification: Oncogenic: The L858R mutation in exon 21 is a well-known oncogenic mutation associated with non-small cell lung cancer and has been previously correlated with gefitinib sensitivity, although in this study it was found in a non-responder. Predictive: The presence of mutations in the EGFR tyrosine kinase domain, including L858R, has been previously associated with response to gefitinib, indicating a potential predictive value for treatment outcomes.

      Gene→Variant (gene-first): TXK(7294):G/A NA:rs10251977 NA:rs17290643 EGFR(1956):L858R EGFR(1956):T790M

      Genes: TXK(7294) NA EGFR(1956)

      Variants: G/A rs10251977 rs17290643 L858R T790M

    2. We detected two previously documented single nucleotide polymorphisms (dbSNP rs10251977, rs17290643). Exon 20 harbours the synonymous G/A SNP rs10251977 while exon 23 contains the synonymous SNP T/C rs17290643. There was

      [Paragraph-level] PMCID: PMC1952070 Section: RESULTS PassageIndex: 8

      Evidence Type(s): Diagnostic, Predictive

      Justification: Diagnostic: The passage mentions the detection of single nucleotide polymorphisms (SNPs) and their association with specific exons, indicating their role in defining or classifying genetic variants. Predictive: The passage explicitly states that there was "no correlation between these alleles and gefitinib response," which implies that the variants were evaluated for their predictive value regarding treatment response.

      Gene→Variant (gene-first): 7294:G/A NA:rs10251977 NA:rs17290643

      Genes: 7294 NA

      Variants: G/A rs10251977 rs17290643

    3. We studied the DNA sequence of the EGFR tyrosine kinase domain in our patient samples as this domain was previously associated with increased gefitinib sensitivity. In eight of thirty-eight tumours assessed we found ten

      [Paragraph-level] PMCID: PMC1952070 Section: RESULTS PassageIndex: 5

      Evidence Type(s): Predictive, Oncogenic

      Justification: Predictive: The passage discusses the correlation of the L858R mutation with gefitinib response, indicating that it is associated with treatment sensitivity or resistance. Oncogenic: The L858R mutation is described as a somatic mutation found in tumor samples, suggesting its role in tumor development or progression.

      Gene→Variant (gene-first): 1956:L858R 1956:T790M

      Genes: 1956

      Variants: L858R T790M

    4. Mutations previously correlated with response were detected in five tumours, four with exon 19 deletions and one with an exon 21 missense L858R point mutation. Increased gene copy number was observed in thirteen tumours,

      [Paragraph-level] PMCID: PMC1952070 Section: ABSTRACT PassageIndex: 6

      Evidence Type(s): Predictive, Diagnostic

      Justification: Predictive: The passage discusses mutations, including the L858R point mutation, in the context of their correlation with response to treatment, indicating a predictive relationship. Diagnostic: The mention of the L858R mutation as part of a group of mutations previously correlated with response suggests its role in defining or classifying a disease subtype.

      Gene→Variant (gene-first): 1956:L858R

      Genes: 1956

      Variants: L858R

    5. Mutations previously correlated with response were detected in five tumours, four with exon 19 deletions and one with an exon 21 missense L858R point mutation. Increased gene copy number was observed in thirteen tumours,

      [Paragraph-level] PMCID: PMC1952070 Section: ABSTRACT PassageIndex: 6

      Evidence Type(s): Predictive, Diagnostic

      Justification: Predictive: The passage discusses mutations, including the L858R point mutation, in the context of their correlation with response to treatment, indicating a predictive relationship. Diagnostic: The mention of the L858R mutation as part of a group of mutations previously correlated with response suggests its role in defining or classifying a disease subtype.

      Gene→Variant (gene-first): 1956:L858R

      Genes: 1956

      Variants: L858R