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EGFr dinucleotide repeat polymorphism in non-small cell lung cancer
Abstract   Open access   Peer reviewed

EGFr dinucleotide repeat polymorphism in non-small cell lung cancer

S. Dubey, J. Miller, P. Stephenson, S. M. Keller, D. H. Johnson, J. H. Schiller and J. M. Kolesar
Journal of clinical oncology, Vol.22(14_suppl), pp.9585-9585
07/15/2004
DOI: 10.1200/jco.2004.22.90140.9585
url
https://doi.org/10.1200/jco.2004.22.90140.9585View
Published (Version of record) Open Access

Abstract

Abstract only Background: Intron 1 of the epidermal growth factor receptor (EGFr) gene contains a polymorphic simple sequence repeat (SSR) of 14–21 CA dinucleotides, which regulates the transcription and expression of EGFr. In breast cancer, the length of these repeats is inversely related to EGFr expression. In breast and colorectal cancer, the most common genotype was heterozygous for 16 and 20 repeats. We evaluated the distribution of the (CA)n repeats in non-small cell lung cancer (NSCLC). Methods: Genomic DNA isolated from primary lung tumor and matched normal nodes samples from ECOG 3590 study were analyzed. Extracted DNA was amplified for EGFr intron1 by PCR and sequenced in a 3730XL DNA analyzer. Results: 157 primary tumors and 72 nodes were sequenced. 105 (67%) tumor samples were heterozygous for intron 1. There was no significant association between homozygous or heterozygous status with baseline characteristics such as race, gender, weight, performance status, histology, and stage or survival. The commonest genotype was heterozygous with allele lengths of 17/19 dinucleotides (17.8%), followed closely by 17/18 (11.4%) and homozygous 19 (11.4%) (Table1). SSR length of 18 or less dinucleotide repeats was associated with squamous cell histology (p=0.03). SSR length did not correlate with survival (p=0.20) . Conclusions: This is the first study to assess the EGFr SSR polymorphism in NSCLC. The commonest genotype for SSR length in NSCLC differs from breast and colon cancer. There is no significant correlation between allele status and length of the SSR with survival. Tumors with a shorter SSR were associated with squamous histology.

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