Mutational Analysis of EGFR and Related Signaling Pathway Genes in Lung Adenocarcinomas
Author Information
Author(s): Marks Jenifer L., McLellan Michael D., Zakowski Maureen F., Lash Alex E., Kasai Yumi, Broderick Stephen, Sarkaria Inderpal S., Pham DuyKhanh, Singh Bhuvanesh, Miner Tracie L., Fewell Ginger A., Fulton Lucinda L., Mardis Elaine R., Wilson Richard K., Kris Mark G., Rusch Valerie W., Varmus Harold, Pao William
Primary Institution: Memorial Sloan-Kettering Cancer Center
Hypothesis
What are the somatic mutations in genes of the EGFR signaling pathway that could contribute to lung tumorigenesis?
Conclusion
The study identified a novel somatic mutation in FGFR4 and suggests that most gain-of-function mutations in the EGFR signaling pathway have already been discovered.
Supporting Evidence
- The study analyzed genomic DNA from 261 resected lung cancer specimens.
- 239 putative genetic variants were identified through sequencing.
- One novel mutation in FGFR4 was found in 1 of 158 tumors.
- Most identified mutations were previously reported in other studies.
- 90% of the tumors analyzed were adenocarcinomas.
Takeaway
Researchers looked at lung cancer samples to find mutations in important genes, discovering a new mutation that might help explain how some lung cancers develop.
Methodology
High-throughput sequencing of 39 genes in genomic DNA from 261 lung cancer specimens.
Potential Biases
Potential bias due to the selective amplification of DNA from normal rather than tumor tissue.
Limitations
The study only examined 39 genes and did not include all related gene family members.
Participant Demographics
90% of tumors were adenocarcinomas, and 10% were squamous cell carcinomas.
Digital Object Identifier (DOI)
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