Lung Cancer
Volume 70, Issue 1 , Pages 14-21 , October 2010

Cystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk

  • Yafei Li

      Affiliations

    • Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN, USA
    • ,
  • Zhifu Sun

      Affiliations

    • Division of Biomedical Statistics and Informatics, Mayo Clinic College of Medicine, Rochester, MN, USA
    • ,
  • Yanhong Wu

      Affiliations

    • Genomics Shared Resource, Mayo Clinic College of Medicine, Rochester, MN, USA
    • ,
  • Dusica Babovic-Vuksanovic

      Affiliations

    • Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN, USA
    • ,
  • Yan Li

      Affiliations

    • Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN, USA
    • ,
  • Julie M. Cunningham

      Affiliations

    • Genomics Shared Resource, Mayo Clinic College of Medicine, Rochester, MN, USA
    • ,
  • Vernon S. Pankratz

      Affiliations

    • Division of Biomedical Statistics and Informatics, Mayo Clinic College of Medicine, Rochester, MN, USA
    • ,
  • Ping Yang

      Affiliations

    • Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN, USA
    • Corresponding Author InformationCorresponding author at: Mayo Clinic, Department of Health Sciences Research, 200 First Street SW, Rochester, MN 55905, USA. Tel.: +1 507 266 5369; fax: +1 507 266 2478.

Received 26 August 2009 ,Revised 21 November 2009 ,Accepted 8 January 2010.

References 

  1. Zielenski J, Tsui LC. Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet. 1995;29:777–807
  2. Durno C, Corey M, Zielenski J, Tullis E, Tsui LC, Durie P. Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis. Gastroenterology. 2002;123:1857–1864
  3. Warren N, Holmes JA, al-Jader L, West RR, Lewis DC, Padua RA. Frequency of carriers of cystic fibrosis gene among patients with myeloid malignancy and melanoma. BMJ. 1991;302:760–761
  4. Neglia JP, FitzSimmons SC, Maisonneuve P, Schoni MH, Schoni-Affolter F, Corey M, et al. The risk of cancer among patients with cystic fibrosis. N Engl J Med. 1995;332:494–499
  5. McWilliams R, Highsmith WE, Rabe KG, de Andrade M, Tordsen LA, Holtegaard LM, et al. Cystic fibrosis transmembrane regulator gene carrier status is a risk factor for young onset pancreatic adenocarcinoma. Gut. 2005;54:1661–1662
  6. Padua RA, Warren N, Grimshaw D, Smith M, Lewis C, Whittaker J, et al. The cystic fibrosis delta F508 gene mutation and cancer. Hum Mutat. 1997;10:45–48
  7. Southey MC, Batten L, Andersen CR, McCredie MR, Giles GG, Dite G, et al. CFTR deltaF508 carrier status, risk of breast cancer before the age of 40 and histological grading in a population-based case-control study. Int J Cancer. 1998;79:487–489
  8. Abraham EH, Vos P, Kahn J, Grubman SA, Jefferson DM, Ding I, et al. Cystic fibrosis hetero- and homozygosity is associated with inhibition of breast cancer growth. Nat Med. 1996;2:593–596
  9. Qiao D, Yi L, Hua L, Xu Z, Ding Y, Shi D, et al. Cystic fibrosis transmembrane conductance regulator (CFTR) gene 5T allele may protect against prostate cancer: a case-control study in Chinese Han population. J Cyst Fibros. 2008;7:210–214
  10. Yang P, Sun Z, Krowka MJ, Aubry MC, Bamlet WR, Wampfler JA, et al. Alpha1-antitrypsin deficiency carriers, tobacco smoke, chronic obstructive pulmonary disease, and lung cancer risk. Arch Intern Med. 2008;168:1097–1103
  11. Yang P, Wentzlaff KA, Katzmann JA, Marks RS, Allen MS, Lesnick TG, et al. Alpha1-antitrypsin deficiency allele carriers among lung cancer patients. Cancer Epidemiol Biomarkers Prev. 1999;8:461–465
  12. Yang P, Allen MS, Aubry MC, Wampfler JA, Marks RS, Edell ES, et al. Clinical features of 5,628 primary lung cancer patients: experience at Mayo Clinic from 1997 to 2003. Chest. 2005;128:452–462
  13. Taniguchi K, Yang P, Jett J, Bass E, Meyer R, Wang Y, et al. Polymorphisms in the promoter region of the neutrophil elastase gene are associated with lung cancer development. Clin Cancer Res. 2002;8:1115–1120
  14. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263–265
  15. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, et al. The structure of haplotype blocks in the human genome. Science. 2002;296:2225–2229
  16. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet. 2002;70:425–434
  17. Lake SL, Lyon H, Tantisira K, Silverman EK, Weiss ST, Laird NM, et al. Estimation and tests of haplotype-environment interaction when linkage phase is ambiguous. Hum Hered. 2003;55:56–65
  18. Yu Z, Schaid DJ. Application of sequential haplotype scan methods to case-control data. BMC Proc. 2007;1(Suppl. 1):S21
  19. Yu Z, Schaid DJ. Sequential haplotype scan methods for association analysis. Genet Epidemiol. 2007;31:553–564
  20. Sheppard DN, Welsh MJ. Structure and function of the CFTR chloride channel. Physiol Rev. 1999;79:S23–45
  21. Schwiebert EM, Benos DJ, Egan ME, Stutts MJ, Guggino WB. CFTR is a conductance regulator as well as a chloride channel. Physiol Rev. 1999;79:S145–S166
  22. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245:1073–1080
  23. The Cystic Fibrosis Genetic Analysis Consortium . Population variation of common cystic fibrosis mutations. Hum Mutat. 1994;4:167–177
  24. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration. 2000;67:117–133
  25. Tsui LC. The spectrum of cystic fibrosis mutations. Trends Genet. 1992;8:392–398
  26. Cuppens H, Lin W, Jaspers M, Costes B, Teng H, Vankeerberghen A, et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest. 1998;101:487–496
  27. Moribe T, Iizuka N, Miura T, Kimura N, Tamatsukuri S, Ishitsuka H, et al. Methylation of multiple genes as molecular markers for diagnosis of a small, well-differentiated hepatocellular carcinoma. Int J Cancer. 2009;125:388–397
  28. Yu J, Zhu T, Wang Z, Zhang H, Qian Z, Xu H, et al. A novel set of DNA methylation markers in urine sediments for sensitive/specific detection of bladder cancer. Clin Cancer Res. 2007;13:7296–7304
  29. Cohen JC, Lundblad LK, Bates JH, Levitzky M, Larson JE. The “Goldilocks effect” in cystic fibrosis: identification of a lung phenotype in the cftr knockout and heterozygous mouse. BMC Genet. 2004;5:21
  30. Foster CS, Cornford P, Forsyth L, Djamgoz MB, Ke Y. The cellular and molecular basis of prostate cancer. BJU Int. 1999;83:171–194
  31. Lemonnier L, Shuba Y, Crepin A, Roudbaraki M, Slomianny C, Mauroy B, et al. Bcl-2-dependent modulation of swelling-activated Cl- current and ClC-3 expression in human prostate cancer epithelial cells. Cancer Res. 2004;64:4841–4848
  32. Lader AS, Prat AG, Jackson GR, Chervinsky KL, Lapey A, Kinane TB, et al. Increased circulating levels of plasma ATP in cystic fibrosis patients. Clin Physiol. 2000;20:348–353
  33. Humez S, Monet M, van Coppenolle F, Delcourt P, Prevarskaya N. The role of intracellular pH in cell growth arrest induced by ATP. Am J Physiol Cell Physiol. 2004;287:C1733–C1746

PII: S0169-5002(10)00007-3

doi: 10.1016/j.lungcan.2010.01.005

Lung Cancer
Volume 70, Issue 1 , Pages 14-21 , October 2010

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