title: Correlation between EGFR Gene Mutations and Lung Cancer: a Hospital-Based Study.
abstract: Epidermal growth factor receptor (EGFR) is one of the targeted molecular markers in many cancers including lung malignancies. Gefitinib and erlotinib are two available therapeutics that act as specific inhibitors of tyrosine kinase (TK) domains. We performed a case-control study with formalin-fixed paraffin-embedded tissue blocks (FFPE) from tissue biopsies of 167 non-small cell lung carcinoma (NSCLC) patients and 167 healthy controls. The tissue biopsies were studied for mutations in exons 18-21 of the EGFR gene. This study was performed using PCR followed by DNA sequencing. We identified 63 mutations in 33 men and 30 women. Mutations were detected in exon 19 (delE746-A750, delE746-T751, delL747-E749, delL747-P753, delL747-T751) in 32 patients, exon 20 (S786I, T790M) in 16, and exon 21 (L858R) in 15. No mutations were observed in exon 18. The 63 patients with EFGR mutations were considered for upfront therapy with oral tyrosine kinase inhibitor (TKI) drugs and have responded well to therapy over the last 15 months. The control patients had no mutations in any of the exons studied. The advent of EGFR TKI therapy has provided a powerful new treatment modality for patients diagnosed with NSCLC. The study emphasizes the frequency of EGFR mutations in NSCLC patients and its role as an important predictive marker for response to oral TKI in the south Indian population.
authors.affiliation: Molecular Biology and Cytogenetics Department, Apollo Health city Building, Apollo Hospitals, Jubilee Hills, Hyderabad, India E-mail : imkhan@ksu.edu.sa.
authors.forename: Kavitha
authors.initials: K
authors.lastname: Matam
authors.forename: Iravathy
authors.initials: I
authors.lastname: Goud
authors.forename: Adi Maha
authors.initials: AM
authors.lastname: Lakshmi M
authors.forename: V
authors.initials: V
authors.lastname: Ravi
authors.forename: K
authors.initials: K
authors.lastname: Sridhar
authors.forename: P Reddy
authors.initials: PR
authors.lastname: Vijayanand
authors.forename: Srinivas
authors.initials: S
authors.lastname: Chakravarthy
authors.forename: S V S S
authors.initials: SV
authors.lastname: Prasad
authors.forename: Shaik Nazia
authors.initials: SN
authors.lastname: Tabassum
authors.forename: Noor Ahmad
authors.initials: NA
authors.lastname: Shaik
authors.forename: Rabbani
authors.initials: R
authors.lastname: Syed
authors.forename: Khalid Khalaf
authors.initials: KK
authors.lastname: Alharbi
authors.forename: Imran Ali
authors.initials: IA
authors.lastname: Khan
mesh_terms: D000328:Adult; D000368:Aged; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001483:Base Sequence; D014408:Biomarkers, Tumor / Q000235:genetics; D002289:Carcinoma, Non-Small-Cell Lung / Q000188:drug therapy* / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D000069347:Erlotinib Hydrochloride / Q000627:therapeutic use; D005091:Exons; D005260:Female; D000077156:Gefitinib; D018773:Genes, erbB-1 / Q000235:genetics*; D006761:Hospitals; D006801:Humans; D008175:Lung Neoplasms / Q000188:drug therapy* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D011446:Prospective Studies; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use*; D011799:Quinazolines / Q000627:therapeutic use; D017384:Sequence Deletion; D012907:Smoking / Q000235:genetics
chemical_list: D000970:Antineoplastic Agents; D014408:Biomarkers, Tumor; D047428:Protein Kinase Inhibitors; D011799:Quinazolines; D000069347:Erlotinib Hydrochloride; D000077156:Gefitinib