6 Matching Annotations
  1. Mar 2026
    1. The transcriptional landscape and mutational profile of lung adenocarcinoma

      [Paper-level Aggregated] PMCID: PMC3483540

      Evidence Type(s): Oncogenic

      Summary: Mutation: L858R | Summary: The L858R mutation in EGFR is identified as a driver mutation contributing to lung adenocarcinoma.

      Evidence Type: Oncogenic Mutation: G719A | Summary: The G719A mutation in EGFR is recognized as a driver mutation associated with lung adenocarcinoma.

      Evidence Type: Oncogenic Mutation: G12C | Summary: The G12C mutation in KRAS is classified as a driver mutation that contributes to lung cancer.

      Evidence Type: Oncogenic Mutation: G12V | Summary: The G12V mutation in KRAS is identified as a driver mutation involved in lung cancer development.

      Evidence Type: Oncogenic Mutation: G12D | Summary: The G12D mutation in KRAS is recognized as a driver mutation contributing to lung cancer.

      Evidence Type: Oncogenic Mutation: G12S | Summary: The G12S mutation in KRAS is classified as a driver mutation associated with lung cancer.

      Evidence Type: Oncogenic Mutation: G13C | Summary: The G13C mutation in KRAS is identified as a driver mutation contributing to lung cancer.

      Evidence Type: Oncogenic Mutation: G13D | Summary: The G13D mutation in KRAS is recognized as a driver mutation involved in lung cancer.

      Evidence Type: Oncogenic Mutation: Q61H | Summary: The Q61H mutation in NRAS is classified as a driver mutation associated with lung cancer.

      Evidence Type: Oncogenic Mutation: Q61L | Summary: The Q61L mutation in NRAS is identified as a driver mutation contributing to lung cancer.

      Evidence Type: Oncogenic Mutation: Q61K | Summary: The Q61K mutation in NRAS is recognized as a driver mutation involved in lung cancer.

      Evidence Type: Oncogenic Mutation: H1047R | Summary: The H1047R mutation in PIK3CA is classified as a driver mutation associated with lung cancer.

      Evidence Type: Oncogenic Mutation: E555K | Summary: The E555K mutation in PIK3CA is identified as a driver mutation contributing to lung cancer.

      Evidence Type: Oncogenic Mutation: V600E | Summary: The V600E mutation in BRAF is recognized as a driver mutation involved in lung cancer.

      Evidence Type: Oncogenic Mutation: D32G | Summary: The D32G mutation in CTNNB1 is classified as a driver mutation associated with lung adenocarcinoma.

      Evidence Type: Oncogenic Mutation: M1124D | Summary: The M1124D mutation in MET is identified as a driver mutation contributing to lung adenocarcinoma.

      Evidence Type: Oncogenic Mutation: C > A | Summary: The C > A transversion is identified as a more frequent somatic mutation in lung cancers of smokers, suggesting its contribution to tumor development or progression.

      Evidence Type: Oncogenic Mutation: T > G | Summary: The T > G transversion is noted as a more common somatic mutation in lung cancers of never-smokers, indicating its potential role in tumor development or progression.

      Gene→Variant (gene-first): EGFR(1956):L858R EGFR(1956):G719A KRAS(3845):G12C KRAS(3845):G12V KRAS(3845):G12D KRAS(3845):G12S KRAS(3845):G13C KRAS(3845):G13D KRAS(3845):Q61H NRAS(4893):Q61L NRAS(4893):Q61K PIK3CA(5290):H1047R LMTK2(22853):E555K BRAF(673):V600E CTNNB1(1499):D32G CTNNB1(1499):M1124D FBLN2(2199):C > A FBLN2(2199):T > G

      Genes: EGFR(1956) KRAS(3845) NRAS(4893) PIK3CA(5290) LMTK2(22853) BRAF(673) CTNNB1(1499) FBLN2(2199)

      Variants: L858R G719A G12C G12V G12D G12S G13C G13D Q61H Q61L Q61K H1047R E555K V600E D32G M1124D C > A T > G

    2. We compared the transcriptional landscape of lung cancers between ever-smokers and never-smokers. There was a significant difference in the number of point mutations between the two groups (Fig. 4A). On average, smokers

      [Paragraph-level] PMCID: PMC3483540 Section: RESULTS PassageIndex: 12

      Evidence Type(s): Oncogenic

      Summary: Evidence Type: Oncogenic | Mutation: C > A | Summary: The C > A transversion is identified as a more frequent somatic mutation in lung cancers of smokers, suggesting its contribution to tumor development or progression. Evidence Type: Oncogenic | Mutation: T > G | Summary: The T > G transversion is noted as a more common somatic mutation in lung cancers of never-smokers, indicating its potential role in tumor development or progression.

      Gene→Variant (gene-first): 2199:C > A 2199:T > G

      Genes: 2199

      Variants: C > A T > G

    3. Using our transcriptome data, we identified 4607 somatic nonsynonymous single nucleotide substitutions and 373 coding short-indel mutations (Supplemental Fig. 2; Supplemental Table 3). Whole-exome sequencing of two rando

      [Paragraph-level] PMCID: PMC3483540 Section: RESULTS PassageIndex: 5

      Evidence Type(s): Oncogenic

      Summary: Evidence Type: Oncogenic | Mutation: L858R | Summary: The L858R mutation in EGFR is identified as a driver mutation contributing to lung adenocarcinoma. Evidence Type: Oncogenic | Mutation: G719A | Summary: The G719A mutation in EGFR is recognized as a driver mutation associated with lung adenocarcinoma. Evidence Type: Oncogenic | Mutation: G12C | Summary: The G12C mutation in KRAS is classified as a driver mutation that contributes to lung cancer. Evidence Type: Oncogenic | Mutation: G12V | Summary: The G12V mutation in KRAS is identified as a driver mutation involved in lung cancer development. Evidence Type: Oncogenic | Mutation: G12D | Summary: The G12D mutation in KRAS is recognized as a driver mutation contributing to lung cancer. Evidence Type: Oncogenic | Mutation: G12S | Summary: The G12S mutation in KRAS is classified as a driver mutation associated with lung cancer. Evidence Type: Oncogenic | Mutation: G13C | Summary: The G13C mutation in KRAS is identified as a driver mutation contributing to lung cancer. Evidence Type: Oncogenic | Mutation: G13D | Summary: The G13D mutation in KRAS is recognized as a driver mutation involved in lung cancer. Evidence Type: Oncogenic | Mutation: Q61H | Summary: The Q61H mutation in NRAS is classified as a driver mutation associated with lung cancer. Evidence Type: Oncogenic | Mutation: Q61L | Summary: The Q61L mutation in NRAS is identified as a driver mutation contributing to lung cancer. Evidence Type: Oncogenic | Mutation: Q61K | Summary: The Q61K mutation in NRAS is recognized as a driver mutation involved in lung cancer. Evidence Type: Oncogenic | Mutation: H1047R | Summary: The H1047R mutation in PIK3CA is classified as a driver mutation associated with lung cancer. Evidence Type: Oncogenic | Mutation: E555K | Summary: The E555K mutation in PIK3CA is identified as a driver mutation contributing to lung cancer. Evidence Type: Oncogenic | Mutation: V600E | Summary: The V600E mutation in BRAF is recognized as a driver mutation involved in lung cancer. Evidence Type: Oncogenic | Mutation: D32G | Summary: The D32G mutation in CTNNB1 is classified as a driver mutation associated with lung adenocarcinoma. Evidence Type: Oncogenic | Mutation: M1124D | Summary: The M1124D mutation in MET is identified as a driver mutation contributing to lung adenocarcinoma.

      Gene→Variant (gene-first): 1499:D32G 22853:E555K 3845:G12C 3845:G12D 3845:G12S 3845:G12V 3845:G13C 3845:G13D 1956:G719A 5290:H1047R 1956:L858R 1499:M1124D 3845:Q61H 4893:Q61K 4893:Q61L 673:V600E

      Genes: 1499 22853 3845 1956 5290 4893 673

      Variants: D32G E555K G12C G12D G12S G12V G13C G13D G719A H1047R L858R M1124D Q61H Q61K Q61L V600E

  2. Feb 2026
    1. The transcriptional landscape and mutational profile of lung adenocarcinoma

      [Paper-level Aggregated] PMCID: PMC3483540

      Evidence Type(s): Oncogenic, Predictive, Prognostic

      Justification: Oncogenic: The text identifies several mutations (e.g., L858R, G719A, G12C, G12V, G12D, G12S, G13C, G13D, Q61H, Q61L, Q61K, H1047R, E555K, V600E, D32G, M1124D) as driver mutations in lung adenocarcinoma, indicating their role in cancer development. Predictive: The presence of specific driver mutations in genes such as EGFR and KRAS suggests potential predictive value for targeted therapies in lung adenocarcinoma, as these mutations are known to influence treatment responses. Prognostic: The text discusses the correlation between the number of mutations and smoking status, which may have implications for prognosis in lung cancer patients, indicating that a higher mutation burden could be associated with disease outcomes.

      Gene→Variant (gene-first): FBLN2(2199):C > A FBLN2(2199):T > G CTNNB1(1499):D32G LMTK2(22853):E555K KRAS(3845):G12C KRAS(3845):G12D KRAS(3845):G12S KRAS(3845):G12V KRAS(3845):G13C KRAS(3845):G13D EGFR(1956):G719A PIK3CA(5290):H1047R EGFR(1956):L858R CTNNB1(1499):M1124D KRAS(3845):Q61H NRAS(4893):Q61K NRAS(4893):Q61L BRAF(673):V600E

      Genes: FBLN2(2199) CTNNB1(1499) LMTK2(22853) KRAS(3845) EGFR(1956) PIK3CA(5290) NRAS(4893) BRAF(673)

      Variants: C > A T > G D32G E555K G12C G12D G12S G12V G13C G13D G719A H1047R L858R M1124D Q61H Q61K Q61L V600E

    2. We compared the transcriptional landscape of lung cancers between ever-smokers and never-smokers. There was a significant difference in the number of point mutations between the two groups (Fig. 4A). On average, smokers

      [Paragraph-level] PMCID: PMC3483540 Section: RESULTS PassageIndex: 12

      Evidence Type(s): Oncogenic, Diagnostic

      Justification: Oncogenic: The passage discusses the presence of somatic point mutations, specifically the C > A and T > G transversions, in lung cancers of smokers, indicating their contribution to tumor development or progression. Diagnostic: The differences in mutational spectrums between lung cancers of smokers and never-smokers suggest that these variants can be used to classify or define the disease based on smoking status.

      Gene→Variant (gene-first): 2199:C > A 2199:T > G

      Genes: 2199

      Variants: C > A T > G

    3. Using our transcriptome data, we identified 4607 somatic nonsynonymous single nucleotide substitutions and 373 coding short-indel mutations (Supplemental Fig. 2; Supplemental Table 3). Whole-exome sequencing of two rando

      [Paragraph-level] PMCID: PMC3483540 Section: RESULTS PassageIndex: 5

      Evidence Type(s): Oncogenic, Diagnostic

      Justification: Oncogenic: The passage discusses several somatic mutations, including those in EGFR, KRAS, NRAS, PIK3CA, BRAF, CTNNB1, and MET, which are identified as driver mutations contributing to lung adenocarcinoma, indicating their role in tumor development or progression. Diagnostic: The passage mentions that specific mutations in well-known cancer genes are associated with lung adenocarcinoma, suggesting that these variants can be used to classify or define the disease.

      Gene→Variant (gene-first): 1499:D32G 22853:E555K 3845:G12C 3845:G12D 3845:G12S 3845:G12V 3845:G13C 3845:G13D 1956:G719A 5290:H1047R 1956:L858R 1499:M1124D 3845:Q61H 4893:Q61K 4893:Q61L 673:V600E

      Genes: 1499 22853 3845 1956 5290 4893 673

      Variants: D32G E555K G12C G12D G12S G12V G13C G13D G719A H1047R L858R M1124D Q61H Q61K Q61L V600E