Analysis of genetic variants in never-smokers with lung cancer facilitated by an internet-based blood collection protocol: A preliminary report Journal Article


Authors: Girard, N.; Lou, E.; Azzoli, C. G.; Reddy, R.; Robson, M.; Harlan, M.; Orlow, I.; Yatabe, Y.; Nafa, K.; Ladanyi, M.; Viale, A.; Kris, M. G.; Riely, G.; Miller, V.; Klein, R. J.; Matsuo, K.; Pao, W.
Article Title: Analysis of genetic variants in never-smokers with lung cancer facilitated by an internet-based blood collection protocol: A preliminary report
Abstract: Purpose: Germ line polymorphisms may confer susceptibility to lung cancer in never smokers, but studies in the United States have been limited by the low number of cases seen at single institutions. We hypothesized that we could use the Internet to bolster the accrual of appropriate patients. Experimental Design: We established an Internet-based protocol to collect blood and information from patients throughout the United States. To illustrate the power of this approach, we used these samples, plus additional cases and age-matched controls from the Memorial Sloan-Kettering Cancer Center (New York, NY) and the Aichi Cancer Center (Nagoya, Japan), to analyze germ line DNA for genetic variants reportedly associated with lung cancer susceptibility. The genotypes for the polymorphisms rs763317 (intron 1) and T790M (exon 20) in the EGFR gene were determined by direct sequencing, and CHRNA3 nicotinic acetylcholine receptor single nucleotide polymorphisms (rs8034191 and rs1051730) were genotyped as part of a pilot genome-wide association study. Results: We successfully analyzed germ line DNA from 369 cases, including 45 obtained via the Internet, and 342 controls. A germ line EGFR T790M variant was identified in 2 of the 369 cases (0.54%; 95% confidence interval, 0.21-1.29%), and in none of the 292 controls (P = 0.21). No difference was observed in EGFR rs763317 frequency between cases and controls. Similarly, neither CHRNA3 rs8034191 nor rs1051730 were associated with lung cancer risk. Conclusions: The Internet provides a way to recruit patients throughout the country for minimal risk studies. This approach could be used to facilitate studies of germ line polymorphisms in specific groups of patients with cancer. ©2010 AACR.
Keywords: adult; controlled study; aged; middle aged; retrospective studies; major clinical study; single nucleotide polymorphism; exon; case-control studies; polymorphism, single nucleotide; cancer risk; united states; cancer susceptibility; lung non small cell cancer; carcinoma, non-small-cell lung; lung neoplasms; genetic variability; genotype; intron; gene frequency; internet; smoking; algorithms; pedigree; genome analysis; lung adenocarcinoma; medical information; dna; blood sampling; genetic susceptibility; dna mutational analysis; lung squamous cell carcinoma; genetic risk; japan; blood specimen collection; receptor gene; geography; geographic distribution; nicotinic receptor; genes, erbb-1
Journal Title: Clinical Cancer Research
Volume: 16
ISSN: 1078-0432
Publisher: American Association for Cancer Research  
Date Published: 2010-01-01
Start Page: 755
End Page: 763
Language: English
DOI: 10.1158/1078-0432.ccr-09-2437
PUBMED: 20068085
PROVIDER: scopus
PMCID: PMC2808124
DOI/URL:
Notes: --- - "Cited By (since 1996): 5" - "Export Date: 20 April 2011" - "CODEN: CCREF" - "Source: Scopus"
Altmetric Score
MSK Authors
  1. Khedoudja Nafa
    181 Nafa
  2. Mark E Robson
    365 Robson
  3. Christopher G Azzoli
    105 Azzoli
  4. William Pao
    141 Pao
  5. Emil Lou
    11 Lou
  6. Nicolas Gerald Girard
    17 Girard
  7. Irene Orlow
    191 Orlow
  8. Vincent Miller
    259 Miller
  9. Marc Ladanyi
    861 Ladanyi
  10. Gregory J Riely
    344 Riely
  11. Agnes Viale
    205 Viale
  12. Robert J. Klein
    59 Klein
  13. Mark Kris
    597 Kris
  14. Rekha Modugu Reddy
    3 Reddy