[Paper-level Aggregated] PMCID: PMC1240052

Evidence Type(s): Functional

Summary: Mutation: D837A | Summary: The D837A mutation is described as kinase-dead and kinase-inactive, failing to induce colony formation, indicating an alteration in molecular function compared to the wild-type EGFR.

Evidence Type: Functional Mutation: L858R | Summary: The L858R mutation in EGFR is associated with ligand-independent autophosphorylation, constitutive phosphorylation of Shc, and constitutive activation of STAT signaling pathways, indicating alterations in molecular function related to receptor activation and downstream signaling pathways.

Evidence Type: Functional Mutation: mutant EGFR | Summary: The mutant EGFR leads to constitutive activation of signaling pathways, indicating an alteration in molecular function related to cell survival.

Gene→Variant (gene-first): EGFR(1956):D837A EGFR(1956):L858R NA:mutant EGFR

Genes: EGFR(1956) NA

Variants: D837A L858R mutant EGFR

[Paper-level Aggregated] PMCID: PMC1240052

Evidence Type(s): Oncogenic

Summary: Mutation: G719S | Summary: The G719S mutation contributes to tumor development by transforming NIH-3T3 cells to anchorage independence and promoting tumor formation in immunocompromised mice, indicating its role in altered cellular behavior and tumor progression.

Evidence Type: Oncogenic Mutation: L858R | Summary: The L858R mutation contributes to tumor development and progression by transforming NIH-3T3 cells, enhancing anchorage-independent growth, and activating oncogenic signaling pathways. It has been shown to form tumors in immunocompromised mice and is associated with constitutive activation of downstream signaling pathways.

Evidence Type: Oncogenic Mutation: A750P | Summary: The A750P mutation contributes to tumor development by promoting colony formation in soft agar, indicating its transforming activity.

Evidence Type: Oncogenic Mutation: D770_N771insNPG | Summary: The D770_N771insNPG mutation demonstrates transforming activity, contributing to tumor development as indicated by increased colony formation efficiency in NIH-3T3 cells.

Evidence Type: Oncogenic Mutation: L747_E749del | Summary: The L747_E749del mutation has transforming activity, contributing to tumor development through enhanced colony formation in soft agar.

Evidence Type: Oncogenic Mutation: L747_E749del A750P | Summary: The L747_E749del A750P deletion and insertion mutants formed colonies in soft agar with high efficiency, suggesting their oncogenic potential.

Evidence Type: Oncogenic Mutation: mutant EGFR | Summary: The mutant EGFR contributes to tumor development by activating downstream signaling pathways involved in promoting cell survival.

Gene→Variant (gene-first): EGFR(1956):G719S EGFR(1956):L858R EGFR(1956):A750P EGFR(1956):D770_N771insNPG NA:L747_E749del EGFR(1956):L747_E749del A750P NA:mutant EGFR

Genes: EGFR(1956) NA

Variants: G719S L858R A750P D770_N771insNPG L747_E749del L747_E749del A750P mutant EGFR

[Paper-level Aggregated] PMCID: PMC1240052

Evidence Type(s): Predictive

Summary: Mutation: G719S | Summary: The G719S mutation is associated with resistance to gefitinib, indicating its predictive value for therapy response in lung adenocarcinoma patients.

Evidence Type: Predictive Mutation: L747_E749del A750P | Summary: The L747_E749del A750P mutation correlates with sensitivity to gefitinib and erlotinib, supporting its predictive role in therapy response for lung adenocarcinoma.

Evidence Type: Predictive Mutation: L858R | Summary: The L858R mutation is linked to increased sensitivity to gefitinib and erlotinib, demonstrating its predictive significance for treatment outcomes in lung adenocarcinoma patients. Additionally, it is associated with a response to the irreversible EGFR inhibitor CL-387,785, which shows greater effectiveness compared to gefitinib or erlotinib in inhibiting colony formation and autophosphorylation.

Gene→Variant (gene-first): EGFR(1956):G719S EGFR(1956):L747_E749del A750P EGFR(1956):L858R

Genes: EGFR(1956)

Variants: G719S L747_E749del A750P L858R