Germline copy number variation in the YTHDC2 gene: Does it have a role in finding a novel potential molecular target involved in pancreatic adenocarcinoma susceptibility?

Expert Opinion on Therapeutic Targets

Volumn 18, Issue 8, 2014, Pages 841-850

  Fanale, Daniele ^a   Iovanna, Juan Lucio ^b   Calvo, Ezequiel Luis ^b,c   Berthezene, Patrice ^b   Belleau, Pascal ^c   Dagorn, Jean Charles ^b   Bronte, Giuseppe ^a   Cicero, Giuseppe ^a   Bazan, Viviana ^a   Rolfo, Christian ^d   Santini, Daniele ^e   Russo, Antonio ^a  

^a UNIVERSITY OF PALERMO   (Italy)

^b INSERM   (France)

^c LAVAL UNIVERSITY   (Canada)

^d ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^e UNIVERSITY CAMPUS BIO MEDICO   (Italy)

Author keywords

Copy number variations; Germline alteration; Pancreatic cancer susceptibility; YTHDC2 gene

Indexed keywords

DNA; DNA HELICASE; ONCOPROTEIN; RNA HELICASE; UNCLASSIFIED DRUG; YTHDC2 PROTEIN; ADENOSINE TRIPHOSPHATASE; YTHDC2 PROTEIN, HUMAN;

ADULT; AGED; ALLELE; ARTICLE; CANCER RISK; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE DOSAGE; HUMAN; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PANCREAS ADENOCARCINOMA; PROSPECTIVE STUDY; VERY ELDERLY; ADENOCARCINOMA; CASE CONTROL STUDY; GENETIC PREDISPOSITION; GENETICS; GERMLINE MUTATION; MULTIPLEX POLYMERASE CHAIN REACTION; PANCREAS TUMOR; PATHOLOGY; PROCEDURES;

ADENOCARCINOMA; ADENOSINE TRIPHOSPHATASES; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; DNA COPY NUMBER VARIATIONS; DNA HELICASES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MULTIPLEX POLYMERASE CHAIN REACTION; PANCREATIC NEOPLASMS; PROSPECTIVE STUDIES; RNA HELICASES;

EID: 84904415847     PISSN: 14728222     EISSN: 17447631     Source Type: Journal    
DOI: 10.1517/14728222.2014.920324     Document Type: Article

References (47)

1. Siegel R, Naishadham D, Jemal A. Cancer statistics, 2012. CA Cancer J Clin 2012;62:10-29
2. Hamada S, Shimosegawa T. Pancreatic cancer stem cell and mesenchymal stem cell. In: Grippo PJ, Munshi HG, editors. Pancreatic cancer and tumor microenvironment. Chapter 6. Transworld Research Network, Trivandrum (India); 2012
3. Mack TM, Yu MC, Hanisch R, et al. Pancreas cancer and smoking, beverage consumption, and past medical history. J Natl Cancer Inst 1986;76:49-60 (Pubitemid 16156103)
4. Momi N, Kaur S, Ponnusamy MP, et al. Interplay between smoking-induced genotoxicity and altered signaling in pancreatic carcinogenesis. Carcinogenesis 2012;33:1617-28
5. Bosetti C, Lucenteforte E, Silverman DT, et al. Cigarette smoking and pancreatic cancer: An analysis from the International Pancreatic Cancer Case-Control Consortium (Panc4). Ann Oncol 2012;23:1880-8
6. Everhart J, Wright D. Diabetes mellitus as a risk factor for pancreatic cancer. A meta-analysis. JAMA 1995;273:1605-9
7. Chari ST, Leibson CL, Rabe KG, et al. Pancreatic cancer-associated diabetes mellitus: Prevalence and temporal association with diagnosis of cancer. Gastroenterology 2008;134:95-101 (Pubitemid 350309328)
8. Lin Y, Kikuchi S, Tamakoshi A, et al. Obesity, physical activity and the risk of pancreatic cancer in a large Japanese cohort. Int J Cancer 2007;120:2665-71 (Pubitemid 46651289)
9. Larsson SC, Orsini N, Wolk A. Body mass index and pancreatic cancer risk: A meta-analysis of prospective studies. Int J Cancer 2007;120:1993-8 (Pubitemid 46418379)
10. Malka D, Hammel P, Maire F, et al. Risk of pancreatic adenocarcinoma in chronic pancreatitis. Gut 2002;51:849-52 (Pubitemid 35408607)
11. Chung SD, Chen KY, Xirasagar S, et al. More than 9-times increased risk for pancreatic cancer among patients with acute pancreatitis in Chinese population. Pancreas 2012;41:142-6
12. Huang L, Teng D, Wang H, et al. Association of copy number variation in the AHI1 gene with risk of obesity in the Chinese population. Eur J Endocrinol 2012;166:727-34
13. Raimondi S, Maisonneuve P, Lowenfels AB. Epidemiology of pancreatic cancer: An overview. Nat Rev Gastroenterol Hepatol 2009;6:699-708
14. Vincent A, Herman J, Schulick R, et al. Pancreatic cancer. Lancet 2011;378:607-20
15. Wang L, Brune KA, Visvanathan K, et al. Elevated cancer mortality in the relatives of patients with pancreatic cancer. Cancer Epidemiol Biomarkers Prev 2009;18:2829-34
16. Shi C, Klein AP, Goggins M, et al. Increased prevalence of precursor lesions in familial pancreatic cancer patients. Clin Cancer Res 2009;15:7737-43
17. Lal G, Liu G, Schmocker B, et al. Inherited predisposition to pancreatic adenocarcinoma: Role of family history and germ-line p16, BRCA1, and BRCA2 mutations. Cancer Res 2000;60:409-16 (Pubitemid 30070770)
18. Murphy KM, Brune KA, Griffin C, et al. Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: Deleterious BRCA2 mutations in 17%. Cancer Res 2002;62:3789-93 (Pubitemid 34728862)
19. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000;119:1447-53 (Pubitemid 32198669)
20. Couch FJ, Johnson MR, Rabe K, et al. Germ line Fanconi anemia complementation group C mutations and pancreatic cancer. Cancer Res 2005;65:383-6
21. Goldstein AM, Fraser MC, Struewing JP, et al. Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N Engl J Med 1995;333:970-94
22. Hezel AF, Kimmelman AC, et al. Genetics and biology of pancreatic ductal adenocarcinoma. Genes Dev 2006;20:1218-49 (Pubitemid 43727584)
23. Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature 2006;444:444-54 (Pubitemid 44809057)
24. Conrad DF, Pinto D, Redon R, et al. Origins and functional impact of copy number variation in the human genome. Nature 2010;464:704-12
25. Zhang F, Gu W, Hurles ME, et al. Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet 2009;10:451-81
26. Bruder CE, Piotrowski A, Gijsbers AA, et al. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 2008;82:763-71
27. Henrichsen CN, Chaignat E, Reymond A. Copy number variants, diseases and gene expression. Hum Mol Genet 2009;18:R1-8
28. Fanale D, Iovanna JL, Calvo EL, et al. Analysis of germline gene copy number variants of patients with sporadic pancreatic adenocarcinoma reveals specific variations. Oncology 2013;85:306-11
29. Tanabe A, Konno J, Tanikawa K, et al. Transcriptional machinery of TNF-alpha-inducible YTH domain containing 2 (YTHDC2) gene. Gene 2014;535:24-32
30. O'Roak BJ, Vives L, Girirajan S, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012;485:246-50
31. Pugh TJ, Delaney AD, Farnoud N, et al. Impact of whole genome amplification on analysis of copy number variants. Nucleic Acids Res 2008;36:e80
32. Hong H, Su Z, Ge W, et al. Assessing batch effects of genotype calling algorithm BRLMM for the affymetrix genechip human mapping 500 K array set using 270 hapmap samples. BMC Bioinformatics 2008;9(Suppl 9):S17
33. Fu B, Xu J. A new genotype calling method for affymetrix SNP arrays. J Bioinform Comput Biol 2011;9:715-28
34. Andersen CL, Wiuf C, Kruhoffer M, et al. Frequent occurrence of uniparental disomy in colorectal cancer. Carcinogenesis 2007;28:38-48 (Pubitemid 44942625)
35. Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57
36. Izzo A, Regnard C, Morales V, et al. Structure-function analysis of the RNA helicase maleless. Nucleic Acids Res 2008;36:950-62 (Pubitemid 351267249)
37. Lee CG, Chang KA, Kuroda MI, et al. The NTPase/helicase activities of Drosophila maleless, an essential factor in dosage compensation. EMBO J 1997;16:2671-81 (Pubitemid 27226206)
38. Biankin AV, Waddell N, Kassahn KS, et al. Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature 2012;491:399-405
39. Hidalgo M. Pancreatic cancer. N Engl J Med 2010;362:1605-17
40. Hidalgo M. New insights into pancreatic cancer biology. Ann Oncol 2012;23(Suppl 10):x135-8
41. Park H, Kim JI, Ju YS, et al. Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet 2010;42:400-U461
42. Huang RS, Chen P, Wisel S, et al. Population-specific GSTM1 copy number variation. Hum Mol Genet 2009;18:366-72
43. Chen W, Hayward C, Wright AF, et al. Copy number variation across European populations. PLoS One 2011;6:e23087
44. Lucito R, Suresh S, Walter K, et al. Copy-number variants in patients with a strong family history of pancreatic cancer. Cancer Biol Ther 2007;6:1592-9 (Pubitemid 351590331)
45. Jones S, Hruban RH, Kamiyama et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 2009;324:217
46. Amundadottir L, Kraft P, Stolzenberg-Solomon RZ, et al. Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. Nat Genet 2009;41:986-90
47. Freeman JL, Perry GH, Feuk L, et al. Copy number variation: New insights in genome diversity. Genome Res 2006;16:949-61 (Pubitemid 44162254)