Lung cancer epigenetics and genetics

Lung cancer is the leading cause of cancer‐related death and thus a major health problem. The efficiency of current treatment modalities for lung cancer depends strongly on the time of diagnosis, with better chances of survival if a tumor has been detected at an early stage. Thus, there is an urgent need for rapid and efficient early detection methods. Biomarkers represent a possible alternative to current, rather expensive, screening tools such as spiral computer tomography (CT), or may allow the identification of high risk groups for whom screening would be cost efficient. Although most lung cancers are the consequence of smoking, a substantial fraction of molecular‐epidemiological studies point to high‐prevalence, low‐penetrance genetic polymorphisms as modifiers of environmental lung cancer risk. In the past the genomics field has also made significant advances in identifying genetic lesions that can now be harvested with the goal of identifying novel biomarkers for lung cancer. Furthermore, the importance of epigenetic changes that occur during lung cancer development has been reported, but has been underestimated in the past. Novel high‐throughput, quantitative assays for the detection of DNA methylation or histone tail modifications are now applied, to search for alterations in the lung cancer genome and will identify novel cancer‐related genes that may become attractive targets for treatment, provide new insight into the biology of lung cancers, and could also become useful biomarkers for the early detection of lung cancer in sputum, or may be used as prognostic markers. Thus, an integrative approach in lung cancer research combining epidemiological, genetic and epigenetic information becomes an important concept for the future. © 2008 Wiley‐Liss, Inc.

[1]  G. Mills,et al.  Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1 , 2008, Nature Genetics.

[2]  R. Fergusson Chapter 41. Lung Cancer , 2008 .

[3]  Daniel F. Gudbjartsson,et al.  A variant associated with nicotine dependence, lung cancer and peripheral arterial disease , 2008, Nature.

[4]  Paolo Vineis,et al.  A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25 , 2008, Nature.

[5]  Xueyan Zhong,et al.  High-resolution mapping of DNA hypermethylation and hypomethylation in lung cancer , 2008, Proceedings of the National Academy of Sciences.

[6]  F. Schmidt Meta-Analysis , 2008 .

[7]  Derek Y. Chiang,et al.  Characterizing the cancer genome in lung adenocarcinoma , 2007, Nature.

[8]  C-Y Chen,et al.  Multiple genetic and epigenetic biomarkers for lung cancer detection in cytologically negative sputum and a nested case–control study for risk assessment , 2007, The Journal of pathology.

[9]  Chein-Hui Hung,et al.  Characterization of a multiple epigenetic marker panel for lung cancer detection and risk assessment in plasma , 2007, Cancer.

[10]  T. Wall,et al.  Differences in pharmacogenetics of nicotine and alcohol metabolism: review and recommendations for future research. , 2007, Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco.

[11]  Jude Kendall,et al.  Oncogenic cooperation and coamplification of developmental transcription factor genes in lung cancer , 2007, Proceedings of the National Academy of Sciences.

[12]  P. Vineis,et al.  Evidence of gene gene interactions in lung carcinogenesis in a large pooled analysis. , 2007, Carcinogenesis.

[13]  Anthony J Alberg,et al.  Epidemiology of lung cancer: ACCP evidence-based clinical practice guidelines (2nd edition). , 2007, Chest.

[14]  H. Aburatani,et al.  Identification of the transforming EML4–ALK fusion gene in non-small-cell lung cancer , 2007, Nature.

[15]  D. Gudbjartsson,et al.  Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer , 2007, Nature Genetics.

[16]  Ugo Pastorino,et al.  Genome-wide single nucleotide polymorphism analysis of lung cancer risk detects the KLF6 gene. , 2007, Cancer letters.

[17]  W. Willett,et al.  A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer , 2007, Nature Genetics.

[18]  S. Belinsky,et al.  Towards Clinical Application of Methylated DNA Sequences as Cancer Biomarkers: A Joint NCI's EDRN and NIST Workshop on Standards, Methods, Assays, Reagents and Tools. , 2007, Cancer research.

[19]  P. Fearnhead,et al.  Genome-wide association study of prostate cancer identifies a second risk locus at 8q24 , 2007, Nature Genetics.

[20]  J. Witte Multiple prostate cancer risk variants on 8q24 , 2007, Nature Genetics.

[21]  K. Robertson,et al.  Pharmacologic inhibition of epigenetic modifications, coupled with gene expression profiling, reveals novel targets of aberrant DNA methylation and histone deacetylation in lung cancer , 2007, Oncogene.

[22]  David Ryberg,et al.  Polymorphisms of dopamine receptor/transporter genes and risk of non-small cell lung cancer. , 2007, Lung cancer.

[23]  S. Markowitz,et al.  Ability of low-dose helical CT to distinguish between benign and malignant noncalcified lung nodules. , 2007, Chest.

[24]  A. Whittemore,et al.  Multiple regions within 8q24 independently affect risk for prostate cancer , 2007, Nature Genetics.

[25]  M. Esteller Cancer epigenomics: DNA methylomes and histone-modification maps , 2007, Nature Reviews Genetics.

[26]  A. Riggs,et al.  Homeobox gene methylation in lung cancer studied by genome-wide analysis with a microarray-based methylated CpG island recovery assay , 2007, Proceedings of the National Academy of Sciences.

[27]  Jaana M. Hartikainen,et al.  A common coding variant in CASP8 is associated with breast cancer risk , 2007, Nature Genetics.

[28]  Sandya Liyanarachchi,et al.  Aberrant DNA Methylation of OLIG1, a Novel Prognostic Factor in Non-Small Cell Lung Cancer , 2007, PLoS medicine.

[29]  M. Spitz,et al.  Myeloperoxidase G-463A polymorphism and lung cancer: A HuGE Genetic Susceptibility to Environmental Carcinogens pooled analysis , 2007, Genetics in Medicine.

[30]  S. Chanock,et al.  Common Genetic Variation in TP53 Is Associated with Lung Cancer Risk and Prognosis in African Americans and Somatic Mutations in Lung Tumors , 2007, Cancer Epidemiology Biomarkers & Prevention.

[31]  R. Tyndale,et al.  Overview of the pharmacogenomics of cigarette smoking , 2007, The Pharmacogenomics Journal.

[32]  Paul Fearnhead,et al.  Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Yeager M, Orr N, Hayes RB, Jacobs KB, Kraft , 2007 .

[33]  Marshall W. Anderson,et al.  Identification of a novel tumor suppressor gene p34 on human chromosome 6q25.1. , 2007, Cancer research.

[34]  H. Bartsch,et al.  Genetic risk profiles for cancer susceptibility and therapy response. , 2007, Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer.

[35]  G. Peters,et al.  Similar chromosomal changes in cisplatin and oxaliplatin‐resistant sublines of the H69 SCLC cell line are not associated with platinum resistance , 2006, Genes, chromosomes & cancer.

[36]  W. Gerald,et al.  A Genome-Wide Screen for Promoter Methylation in Lung Cancer Identifies Novel Methylation Markers for Multiple Malignancies , 2006, PLoS medicine.

[37]  M. Spitz,et al.  Meta- and pooled analysis of GSTT1 and lung cancer: a HuGE-GSEC review. , 2006, American journal of epidemiology.

[38]  D. Conrad,et al.  Global variation in copy number in the human genome , 2006, Nature.

[39]  O. Miettinen,et al.  Survival of Patients with Stage I Lung Cancer Detected on CT Screening , 2008 .

[40]  C. Harris,et al.  Radon, secondhand smoke, glutathione‐S‐transferase M1 and lung cancer among women , 2006, International journal of cancer.

[41]  S. Leung,et al.  Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer , 2006, Nature Genetics.

[42]  P. Vineis,et al.  Human Genome Epidemiology (huge) Review Xrcc3 and Xpd/ercc2 Single Nucleotide Polymorphisms and the Risk of Cancer: a Huge Review , 2022 .

[43]  Pengyuan Liu,et al.  Candidate lung tumor susceptibility genes identified through whole-genome association analyses in inbred mice , 2006, Nature Genetics.

[44]  T. Liloglou,et al.  Frequent genetic and epigenetic abnormalities contribute to the deregulation of cytoglobin in non-small cell lung cancer. , 2006, Human molecular genetics.

[45]  A. Gylfason,et al.  A common variant associated with prostate cancer in European and African populations , 2006, Nature Genetics.

[46]  C. Plass,et al.  Epigenetic modulation of tumor suppressor CCAAT/enhancer binding protein alpha activity in lung cancer. , 2006, Journal of the National Cancer Institute.

[47]  J. Danesh,et al.  Methods and Findings , 2022 .

[48]  Christoph Plass,et al.  Epigenetic regulation of the tumor suppressor gene TCF21 on 6q23-q24 in lung and head and neck cancer. , 2006, Proceedings of the National Academy of Sciences of the United States of America.

[49]  Y. Nakanishi,et al.  EPHX1 Polymorphisms and the Risk of Lung Cancer: A HuGE Review , 2006, Epidemiology.

[50]  P. Brennan,et al.  Perspectives on the molecular epidemiology of aerodigestive tract cancers. , 2005, Mutation research.

[51]  P. Brennan,et al.  Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review. , 2005, American journal of epidemiology.

[52]  T. Eisen,et al.  Systematic review of the relationship between family history and lung cancer risk , 2005, British Journal of Cancer.

[53]  Y. Nakanishi,et al.  NQO1, MPO, and the risk of lung cancer: A HuGE review , 2005, Genetics in Medicine.

[54]  H. Dienemann,et al.  Specific combinations of DNA repair gene variants and increased risk for non-small cell lung cancer. , 2004, Carcinogenesis.

[55]  D. Gudbjartsson,et al.  Cancer as a Complex Phenotype: Pattern of Cancer Distribution within and beyond the Nuclear Family , 2004, PLoS medicine.

[56]  Marshall W. Anderson,et al.  A major lung cancer susceptibility locus maps to chromosome 6q23-25. , 2004, American journal of human genetics.

[57]  H. McLeod,et al.  Novel human CYP2A6 alleles confound gene deletion analysis , 2004, FEBS letters.

[58]  S. Gabriel,et al.  EGFR Mutations in Lung Cancer: Correlation with Clinical Response to Gefitinib Therapy , 2004, Science.

[59]  Patricia L. Harris,et al.  Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. , 2004, The New England journal of medicine.

[60]  David C Christiani,et al.  High-resolution single-nucleotide polymorphism array and clustering analysis of loss of heterozygosity in human lung cancer cell lines , 2004, Oncogene.

[61]  David I. K. Martin,et al.  Germline epimutation of MLH1 in individuals with multiple cancers , 2004, Nature Genetics.

[62]  Wei-Guo Zhu,et al.  A comprehensive search for DNA amplification in lung cancer identifies inhibitors of apoptosis cIAP1 and cIAP2 as candidate oncogenes. , 2003, Human molecular genetics.

[63]  M. Meyerson,et al.  Missense mutations of the BRAF gene in human lung adenocarcinoma. , 2002, Cancer research.

[64]  K. Czene,et al.  Attributable risks of familial cancer from the Family-Cancer Database. , 2002, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

[65]  Richard Wooster,et al.  BRAF and RAS mutations in human lung cancer and melanoma. , 2002, Cancer research.

[66]  Shigeki Shimizu,et al.  [Molecular abnormalities in lung cancer]. , 2002, Nihon rinsho. Japanese journal of clinical medicine.

[67]  F. Gilliland,et al.  Aberrant promoter methylation in bronchial epithelium and sputum from current and former smokers. , 2002, Cancer research.

[68]  Y. Yatabe,et al.  Frequent and histological type-specific inactivation of 14-3-3σ in human lung cancers , 2002, Oncogene.

[69]  J. Minna,et al.  Inhibition of lung cancer cell growth and induction of apoptosis after reexpression of 3p21.3 candidate tumor suppressor gene SEMA3B , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[70]  J. Sheu,et al.  Hypermethylation in human cancers of the RIZ1 tumor suppressor gene, a member of a histone/protein methyltransferase superfamily. , 2001, Cancer research.

[71]  J. Minna,et al.  Overexpression of candidate tumor suppressor gene FUS1 isolated from the 3p21.3 homozygous deletion region leads to G1 arrest and growth inhibition of lung cancer cells , 2001, Oncogene.

[72]  J. Minna,et al.  5' CpG island methylation of the FHIT gene is correlated with loss of gene expression in lung and breast cancer. , 2001, Cancer research.

[73]  S. Khuder,et al.  Effect of cigarette smoking on major histological types of lung cancer: a meta-analysis. , 2001, Lung cancer.

[74]  P. Lee,et al.  Relation between exposure to asbestos and smoking jointly and the risk of lung cancer , 2001, Occupational and environmental medicine.

[75]  J. Minna,et al.  Aberrant promoter methylation of multiple genes in non-small cell lung cancers. , 2001, Cancer research.

[76]  A. Gemma,et al.  Increase in the frequency of p16INK4 gene inactivation by hypermethylation in lung cancer during the process of metastasis and its relation to the status of p53. , 2000, Clinical cancer research : an official journal of the American Association for Cancer Research.

[77]  J. Herman,et al.  Predicting lung cancer by detecting aberrant promoter methylation in sputum. , 2000, Cancer research.

[78]  J. Radicella,et al.  Characterization of the hOGG1 promoter and its expression during the cell cycle. , 2000, Mutation research.

[79]  F. Khuri,et al.  Hypermethylation of the death-associated protein (DAP) kinase promoter and aggressiveness in stage I non-small-cell lung cancer. , 2000, Journal of the National Cancer Institute.

[80]  A. Kraus,et al.  Differential frequencies of p16(INK4a) promoter hypermethylation, p53 mutation, and K-ras mutation in exfoliative material mark the development of lung cancer in symptomatic chronic smokers. , 2000, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[81]  J. Minna,et al.  Genome-wide allelotyping of lung cancer identifies new regions of allelic loss, differences between small cell lung cancer and non-small cell lung cancer, and loci clustering. , 2000, Cancer research.

[82]  Eric S. Lander,et al.  Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays , 2000, Nature Biotechnology.

[83]  Richard Doll,et al.  Smoking, smoking cessation, and lung cancer in the UK since 1950: combination of national statistics with two case-control studies , 2000, BMJ : British Medical Journal.

[84]  Chun Xing Li,et al.  Epigenetic inactivation of a RAS association domain family protein from the lung tumour suppressor locus 3p21.3 , 2000, Nature Genetics.

[85]  H. Bartsch,et al.  Genetic polymorphism of CYP genes, alone or in combination, as a risk modifier of tobacco-related cancers. , 2000, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

[86]  J. Herman,et al.  In situ detection of the hypermethylation-induced inactivation of the p16 gene as an early event in oncogenesis. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[87]  E. Miska,et al.  HDAC4 deacetylase associates with and represses the MEF2 transcription factor , 1999, The EMBO journal.

[88]  P. Marks,et al.  Structures of a histone deacetylase homologue bound to the TSA and SAHA inhibitors , 1999, Nature.

[89]  E. Ballestar,et al.  Mi-2 complex couples DNA methylation to chromatin remodelling and histone deacetylation , 1999, Nature Genetics.

[90]  J. Yokota,et al.  How many tumor suppressor genes are involved in human lung carcinogenesis? , 1999, Carcinogenesis.

[91]  C. Croce,et al.  The tumor-suppressor gene FHIT is involved in the regulation of apoptosis and in cell cycle control. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[92]  Y. Nakamura,et al.  Molecular cloning of a candidate tumor suppressor gene, DLC1, from chromosome 3p21.3. , 1999, Cancer research.

[93]  P. Shields,et al.  Molecular epidemiology of lung cancer. , 1999, Annals of oncology : official journal of the European Society for Medical Oncology.

[94]  R. Figlin,et al.  Amplification and overexpression of the cyclin D1 and epidermal growth factor receptor genes in non-small-cell lung cancer , 1999, Journal of Cancer Research and Clinical Oncology.

[95]  J. Herman,et al.  Synergy of demethylation and histone deacetylase inhibition in the re-expression of genes silenced in cancer , 1999, Nature Genetics.

[96]  C. Rubin,et al.  Systematic Reviews: Synthesis of Best Evidence for Health Care Decisions , 1998, Annals of Internal Medicine.

[97]  E Gabrielson,et al.  Aberrant methylation of p16(INK4a) is an early event in lung cancer and a potential biomarker for early diagnosis. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[98]  J. Minna,et al.  Progress in understanding the molecular pathogenesis of human lung cancer. , 1998, Biochimica et biophysica acta.

[99]  A. Sakurada,et al.  The H-cadherin (CDH13) gene is inactivated in human lung cancer , 1998, Human Genetics.

[100]  J. Yokota,et al.  Genetic polymorphisms and alternative splicing of the hOGG1 gene, that is involved in the repair of 8-hydroxyguanine in damaged DNA , 1998, Oncogene.

[101]  J. Strouboulis,et al.  Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription , 1998, Nature Genetics.

[102]  E. Wynder,et al.  Risk of squamous cell carcinoma and adenocarcinoma of the lung in relation to lifetime filter cigarette smoking , 1997, Cancer.

[103]  A. Marchetti,et al.  Association between cigarette smoking and FHIT gene alterations in lung cancer. , 1997, Cancer research.

[104]  G. Omenn,et al.  Effects of a combination of beta carotene and vitamin A on lung cancer and cardiovascular disease. , 1996, The New England journal of medicine.

[105]  J. Manson,et al.  Lack of effect of long-term supplementation with beta carotene on the incidence of malignant neoplasms and cardiovascular disease. , 1996, The New England journal of medicine.

[106]  C. Croce,et al.  The FHIT Gene, Spanning the Chromosome 3p14.2 Fragile Site and Renal Carcinoma–Associated t(3;8) Breakpoint, Is Abnormal in Digestive Tract Cancers , 1996, Cell.

[107]  M H Skolnick,et al.  Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. , 1994, Journal of the National Cancer Institute.

[108]  D. Albanes,et al.  The effect of vitamin E and beta carotene on the incidence of lung cancer and other cancers in male smokers. , 1994, The New England journal of medicine.

[109]  E. Pollack,et al.  What are the odds that smoking will kill you? , 1987, American journal of public health.