[Paper-level Aggregated] PMCID: PMC1952070

Evidence Type(s): Oncogenic

Summary: Mutation: L858R | Summary: The L858R mutation is a known missense mutation in exon 21 that contributes to tumor development or progression. It is associated with EGFR mutations in cancer and has been found in tumor samples, correlating with treatment outcomes.

Evidence Type: Oncogenic Mutation: T790M | Summary: The T790M mutation is a somatic variant that is known to contribute to tumor progression and resistance to therapy.

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

Genes: EGFR(1956)

Variants: L858R T790M

[Paper-level Aggregated] PMCID: PMC1952070

Evidence Type(s): Diagnostic

Summary: Mutation: G/A; rs10251977 | Summary: The variant rs10251977 is mentioned as a single nucleotide polymorphism, which can be used to classify or define a disease or subtype.

Evidence Type: Diagnostic Mutation: T/C; rs17290643 | Summary: The variant rs17290643 is mentioned as a single nucleotide polymorphism, which can be used to classify or define a disease or subtype.

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

Genes: TXK(7294) NA

Variants: G/A rs10251977 T/C rs17290643

[Paper-level Aggregated] PMCID: PMC1952070

Evidence Type(s): Predictive

Summary: Mutation: L858R | Summary: The L858R mutation is associated with a lack of response to gefitinib and was found in a non-responder, indicating its role in predicting treatment resistance.

Evidence Type: Predictive Mutation: T790M | Summary: The T790M mutation is previously documented to confer resistance to gefitinib, supporting its predictive value in treatment response.

Evidence Type: Predictive Mutation: G/A; rs10251977 | Summary: There was no correlation between the G/A SNP rs10251977 and gefitinib response, indicating it does not predict therapy response.

Evidence Type: Predictive Mutation: T/C; rs17290643 | Summary: There was no correlation between the T/C SNP rs17290643 and gefitinib response, indicating it does not predict therapy response.

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

Genes: EGFR(1956) TXK(7294) NA

Variants: L858R T790M G/A rs10251977 T/C rs17290643

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

Evidence Type(s): Diagnostic, Predictive

Summary: Evidence Type: Diagnostic | Mutation: G/A; rs10251977 | Summary: The variant rs10251977 is mentioned as a single nucleotide polymorphism, which can be used to classify or define a disease or subtype. Evidence Type: Diagnostic | Mutation: T/C; rs17290643 | Summary: The variant rs17290643 is mentioned as a single nucleotide polymorphism, which can be used to classify or define a disease or subtype. Evidence Type: Predictive | Mutation: G/A; rs10251977 | Summary: There was no correlation between the G/A SNP rs10251977 and gefitinib response, indicating it does not predict therapy response. Evidence Type: Predictive | Mutation: T/C; rs17290643 | Summary: There was no correlation between the T/C SNP rs17290643 and gefitinib response, indicating it does not predict therapy response.

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

Genes: 7294 NA

Variants: G/A rs10251977 rs17290643

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

Evidence Type(s): Predictive, Oncogenic

Summary: Evidence Type: Predictive | Mutation: L858R | Summary: The L858R mutation is associated with a lack of response to gefitinib, indicating its role in predicting treatment resistance. Evidence Type: Predictive | Mutation: T790M | Summary: The T790M mutation is previously documented to confer resistance to gefitinib, supporting its predictive value in treatment response. Evidence Type: Oncogenic | Mutation: L858R | Summary: The L858R mutation is a somatic variant that contributes to tumor development, as it was found in tumor samples and correlates with treatment outcomes. Evidence Type: Oncogenic | Mutation: T790M | Summary: The T790M mutation is a somatic variant that is known to contribute to tumor progression and resistance to therapy.

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

Genes: 1956

Variants: L858R T790M

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

Evidence Type(s): Predictive, Oncogenic

Summary: Evidence Type: Predictive | Mutation: L858R | Summary: The L858R mutation was mentioned in the context of a study that correlated mutations with response to therapy, although it was noted that this specific mutation was found in a non-responder. Evidence Type: Oncogenic | Mutation: L858R | Summary: The L858R mutation is a known missense mutation in exon 21 that contributes to tumor development or progression, as it is associated with EGFR mutations in cancer.

Gene→Variant (gene-first): 1956:L858R

Genes: 1956

Variants: L858R

[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

[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

[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

[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

[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