Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients

Lung Cancer

Volumn 85, Issue 2, 2014, Pages 168-174

  Renieri, Alessandra ^a,b,c   Mencarelli, Maria Antonietta ^a   Cetta, Francesco ^d   Baldassarri, Margherita ^a,b   Mari, Francesca ^a,b   Furini, Simone ^b   Piu, Pietro ^e   Ariani, Francesca ^b   Dragani, Tommaso A ^f   Frullanti, Elisa ^a  

^a UNIVERSITY HOSPITAL OF SIENA   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

^c ISTITUTO TOSCANO TUMORI   (Italy)

^d IRCCS MULTIMEDICA   (Italy)

^e UNIVERSITY OF SIENA   (Italy)

^f NATIONAL CANCER INSTITUTE   (Italy)

Author keywords

Germline variants; Lung adenocarcinoma; Lung cancer susceptibility; Next generation sequencing; Oligogenic model; Whole exome sequencing

Indexed keywords

AMYLOID PRECURSOR PROTEIN; CADHERIN 13; CHOLINERGIC RECEPTOR NICOTINIC ALPHA 3; CHOLINERGIC RECEPTOR NICOTINIC ALPHA 5; CLEFT LIP AND PALATE TRANSMEMBRANE PROTEIN 1; DNA TOPOISOMERASE; GENOMIC DNA; JANUS KINASE 2; MACROPHAGE ACTIVATING FACTOR; PEPTIDES AND PROTEINS; PHOSPHOPROTEIN PHOSPHATASE 1; PLECKSTRIN; SIDEKICK CELL ADHESION MOLECULE 2; TAURINE TRANSPORTER; UNCLASSIFIED DRUG; VASCULOTROPIN A;

ADULT; ARTICLE; CANCER PATIENT; CASE REPORT; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GERMLINE MUTATION; HUMAN; LUNG ADENOCARCINOMA; MALE; OLIGOGENIC GERMLINE MUTATION; ONSET AGE; PATIENT SELECTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TUMOR GENE; ADENOCARCINOMA; BIOLOGY; CANCER STAGING; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; LUNG NEOPLASMS; MIDDLE AGED; PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING;

ADENOCARCINOMA; AGE OF ONSET; COMPUTATIONAL BIOLOGY; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LUNG NEOPLASMS; MALE; MIDDLE AGED; NEOPLASM STAGING; POLYMORPHISM, SINGLE NUCLEOTIDE; SMOKING;

EID: 84904123180     PISSN: 01695002     EISSN: 18728332     Source Type: Journal    
DOI: 10.1016/j.lungcan.2014.05.020     Document Type: Article

References (43)

1. Jemal A., Siegel R., Xu J., Ward E. Cancer statistics, 2010. CA Cancer J Clin 2010, 60(5):277-300.
2. Peto R., Darby S., Deo H., Silcocks P., Whitley E., Doll R. Smoking, smoking cessation, and lung cancer in the UK since 1950: combination of national statistics with two case-control studies. Br Med J 2000, 321:323-329.
3. Peto R., Lopez A.D., Boreham J., Thun M., Heath C. Mortality from smoking in developed countries 1950-2010 2012, Oxford University Press, New York, NY.
4. Tokuhata G.K., Lillienfeld A.M. Familial aggregation of lung cancer in humans. J Natl Cancer Inst 1963, 30:289-312.
5. Gariboldi M., Manenti G., Canzian F., Falvella F.S., Radice M.T., Pierotti M.A., et al. A major susceptibility locus to murine lung carcinogenesis maps on chromosome 6. Nat Genet 1993, 3:132-136.
6. Manenti G., Galbiati F., Giannì Barrera R., Pettinicchio A., Acevedo A., Dragani T.A. Haplotype sharing suggests that a genomic segment containing six genes accounts for the pulmonary adenoma susceptibility 1 (Pas1) locus activity in mice. Oncogene 2004, 23:4495-4504.
7. Dragani T.A., Canzian F., Pierotti M.A. A polygenic model of inherited predisposition to cancer. FASEB J 1996, 10:865-870.
8. Dragani T.A. 10 Years of mouse cancer modifier loci: human relevance. Cancer Res 2003, 63:3011-3018.
9. Galvan A., Ioannidis J.P., Dragani T.A. Beyond genome-wide association studies: genetic heterogeneity and individual predisposition to cancer. Trends Genet 2010, 26(3):132-141.
10. Ioannidis J.P. Invited commentary-genetic prediction for common diseases. Arch Intern Med 2012, 172(9):744-746.
11. Amos C.I., Wu X., Broderick P., Gorlov I.P., Gu J., Eisen T., et al. Genome-wide association scan of tag SNPs identifies a susceptibility locus for LC at 15q25.1. Nat Genet 2008, 40:616-622.
12. Wang Y., Broderick P., Webb E., Wu X., Vijayakrishnan J., Matakidou A., et al. Common 5p15.33 and 6p21.33 variants influence lung cancer risk. Nat Genet 2008, 40:1407-1409.
13. Wang Y., Broderick P., Matakidou A., Eisen T., Houlston R.S. Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers. Carcinogenesis 2010, 31:234-238.
14. Falvella F.S., Galvan A., Frullanti E., Spinola M., Calabro E., Carbone A., et al. Transcription deregulation at the 15q25 locus in association with lung adenocarcinoma risk. Clin Cancer Res 2009, 15:1837-1842.
15. Li Y., Sheu C.C., Ye Y., de Andrade M., Wang L., Chang S.C., et al. Genetic variants and risk of LC in never smokers: a genome-wide association study. Lancet Oncol 2010, 11:321-330.
16. Galvan A., Falvella F.S., Frullanti E., Spinola M., Incarbone M., Nosotti M., et al. Genome-wide association study in discordant sibships identifies multiple inherited susceptibility alleles linked to LC. Carcinogenesis 2010, 31:462-465.
17. Landi M.T., Chatterjee N., Caporaso N.E., Rotunno M., Albanes D., Thun M., et al. GPC5 rs2352028 variant and risk of LC in never smokers. Lancet Oncol 2010, 11:714-716.
18. Li H., Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009, 25(14):1754-1760.
19. McKenna A., Hanna M., Banks E., Sivachenko A., Cibulskis K., Kernytsky A., et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010, 20(9):1297-1303.
20. Parry M., Rose-Zerilli M.J., Gibson J., Ennis S., Walewska R., Foster J., et al. Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma. PLoS ONE 2013, 8(12):e83244.
21. Stephens P.J., Davies H.R., Mitani Y., Van Loo P., Shlien A., Tarpey P.S., et al. Whole exome sequencing of adenoid cystic carcinoma. J Clin Invest 2013, 123(7):2965-2968.
22. Zheng C.X., Gu Z.H., Han B., Zhang R.X., Pan C.M., Xiang Y., et al. Whole-exome sequencing to identify novel somatic mutations in squamous cell lung cancers. Int J Oncol 2013, 43(3):755-764.
23. Kleer C.G., Zhang Y., Pan Q., van Golen K.L., Wu Z.F., Livant D., et al. WISP3 is a novel tumor suppressor gene of inflammatory breast cancer. Oncogene 2002, 21:3172-3180.
24. Chen P.P., Li W.J., Wang Y., Zhao S., Li D.Y., Feng L.Y., et al. Expression of Cyr61, CTGF, and WISP-1 correlates with clinical features of lung cancer. PLoS ONE 2007, 2(6):e534.
25. Edfeldt K., Ahmad T., Akerström G., Janson E.T., Hellman P., Stalberg P., et al. TCEB3C a putative tumor suppressor gene of small intestine neuroendocrine tumors. Endocr Relat Cancer 2013, [Epub ahead of print].
26. Xu W., Chen B., Tong X. Chronic myeloid leukemia patient with co-occurrence of BCR-ABL junction and JAK2 V617F mutation. Int J Hematol 2014, 99(1):87-90.
27. - chronic lymphocytic leukemia. Chin Med J 2012, 125(11):2076-2079.
28. Alshemmari S.H., Rajaan R., Ameen R., Al-Drees M.A., Almosailleakh M.R. JAK2V617F allele burden in patients with myeloproliferative neoplasms. Ann Hematol 2013, [Epub ahead of print].
29. Akada H., Akada S., Hutchison R.E., Mohi G. Loss of wild-type Jak2 allele enhances myeloid cell expansion and accelerates myelofibrosis in Jak2V617F knock-in mice. Leukemia 2014, [Epub ahead of print].
30. Jennings B.H. Pausing for thought: truncating the early transcription elongation checkpoint leads to developmental defects and tumourigenesis. Bioessays 2013, 35(6):553-560.
31. Kim N.G., Rhee H., Li L.S., Kim H., Lee J.S., Kim J.H., et al. Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with microsatellite instability. Oncogene 2002, 21(33):5081-5087.
32. Lando M., Wilting S.M., Snipstad K., Clancy T., Bierkens M., Aarnes E.K., et al. Identification of eight candidate target genes of the recurrent 3p12-p14 loss in cervical cancer by integrative genomic profiling. J Pathol 2013, 230(1):59-69.
33. Simons A.L., Lu P., Gibson-Corley K.N., Robinson R.A., Meyerholz D.K., Colgan J.D., et al. The Justy mutant mouse strain produces a spontaneous murine model of salivary gland cancer with myoepithelial and basal cell differentiation. Lab Invest 2013, 93(6):711-719.
34. Adamson B., Smogorzewska A., Sigoillot F.D., King R.W., Elledge S.J. A genome-wide homologous recombination screen identifies the RNA-binding protein RBMX as a component of the DNA-damage response. Nat Cell Biol 2012, 14(3):318-328.
35. Ito A., Watabe K., Koma Y., Kitamura Y. An attempt to isolate genes responsible for spontaneous and experimental metastasis in the mouse model. Histol Histopathol 2002, 17(3):951-959.
36. Eeles R.A., Olama A.A., Benlloch S., Saunders E.J., Leongamornlert D.A., Tymrakiewicz M., et al. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet 2013, 45(4):385-391.
37. Pooley K.A., Bojesen S.E., Weischer M., Nielsen S.F., Thompson D., Amin Al Olama A., et al. A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk. Hum Mol Genet 2013, 22(24):5056-5064.
38. Hanahan D., Weinberg R.A. Hallmarks of cancer: the next generation. Cell 2011, 144(5):646-674.
39. Yong S.T., Wang X.F. A novel, non-apoptotic role for Scythe/BAT3: a functional switch between the pro- and anti-proliferative roles of p21 during the cell cycle. PLoS ONE 2012, 7(6):e38085.
40. Lu P., Hankel I.L., Knisz J., Marquardt A., Chiang M.Y., Grosse J., et al. The Justy mutation identifies Gon4-like as a gene that is essential for B lymphopoiesis. J Exp Med 2010, 207(7):1359-1367.
41. Sun J., Li R. Human negative elongation factor activates transcription and regulates alternative transcription initiation. J Biol Chem 2010, 285(9):6443-6452.
42. Rossi D., Trifonov V., Fangazio M., Bruscaggin A., Rasi S., Spina V., et al. The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med 2012, 209:1537-1551.
43. Comai L., Zomerdijk J.C.B.M., Beckmann H., Zhou S., Admon A., Tjian R. Reconstitution of transcription factor SL1: exclusive binding of TBP by SL1 or TFIID subunits. Science 1994, 266:1966-1972.