[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

[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

[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