Genetic basis of pancreas cancer development and progression: Insights from whole-exome and whole-genome sequencing

Clinical Cancer Research

Volumn 18, Issue 16, 2012, Pages 4257-4265

  Iacobuzio Donahue, Christine A ^a   Velculescu, Victor E ^a   Wolfgang, Christopher L ^a   Hruban, Ralph H ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EVEROLIMUS; MAMMALIAN TARGET OF RAPAMYCIN INHIBITOR; MICRORNA; TRANSFORMING GROWTH FACTOR BETA;

ACINAR CELL CARCINOMA; ARTICLE; ATM GENE; CANCER GENETICS; CANCER GROWTH; CANCER INVASION; CANCER MORPHOLOGY; CARCINOGENESIS; CDKN2A GENE; DISEASE ASSOCIATION; DNA METHYLATION; EARLY DIAGNOSIS; EXOME; FAMILY HISTORY; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GNAS GENE; HUMAN; INTRADUCTAL PAPILLARY MUCINOUS TUMOR; METASTASIS; METASTASIS POTENTIAL; ONCOGENE K RAS; PALB2 GENE; PANCREAS ADENOMA; PANCREAS CANCER; PANCREAS SURGERY; PANCREATIC NEUROENDOCRINE TUMOR; PERSONALIZED MEDICINE; PHARMACOGENOMICS; PRIORITY JOURNAL; PRSS1 GENE; RNF43 GENE; SMAD4 GENE; STK11 GENE; TUMOR SUPPRESSOR GENE;

CARCINOMA, PANCREATIC DUCTAL; DISEASE PROGRESSION; FAMILY; GENOME, HUMAN; GERM-LINE MUTATION; HUMANS; NEOPLASM INVASIVENESS; NEOPLASM METASTASIS; PANCREATIC NEOPLASMS; SEQUENCE ANALYSIS, DNA;

EID: 84865076498     PISSN: 10780432     EISSN: 15573265     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-12-0315     Document Type: Article

References (43)

1. Hruban RH, Pitman MB, Klimstra DS. Tumors of the pancreas. Atlas of tumor pathology. Washington, DC: American Registry of Pathology and Armed Forces Institute of Pathology; 2007.
2. Shi C, Daniels JA, Hruban RH. Molecular characterization of pancreatic neoplasms. Adv Anat Pathol 2008;15:185-95.
3. Jiao Y, Shi C, Edil BH, de Wilde RF, Klimstra DS, Maitra A, et al. DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. Science 2011;331: 1199-203.
4. Jones S, Zhang X, Parsons DW, Lin JC, Leary RJ, Angenendt P, et al. Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science 2008;321:1801-6.
5. Wu J, Jiao Y, Dal Molin M, Maitra A, de Wilde RF, Wood LD, et al. Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways. Proc Natl Acad Sci U S A 2011;108:21188-93.
6. Wu J, Matthaei H, Maitra A, Dal Molin M, Wood LD, Eshleman JR, et al. Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst development. Sci Transl Med 2011;3: 92ra66.
7. Hudson TJ, Anderson W, Artez A, Barker AD, Bell C, Bernabé RR, et al. International Cancer Genome Consortium. International network of cancer genome projects. Nature 2010;464:993-8.
8. Hong SM, Kelly D, Griffith M, Omura N, Li A, Li CP, et al. Multiple genes are hypermethylated in intraductal papillary mucinous neoplasms of the pancreas. Mod Pathol 2008;21:1499-507.
9. Ryu JK, Hong SM, Karikari CA, Hruban RH, Goggins MG, Maitra A. Aberrant microRNA-155 expression is an early event in the multistep progression of pancreatic adenocarcinoma. Pancreatology 2010;10:66-73.
10. Sato N, Fukushima N, Maitra A, Matsubayashi H, Yeo CJ, Cameron JL, et al. Discovery of novel targets for aberrant methylation in pancreatic carcinoma using high-throughput microarrays. Cancer Res 2003;63:3735-42.
11. Le A, Rajeshkumar NV, Maitra A, Dang CV. Conceptual framework for cutting the pancreatic cancer fuel supply. Clin Cancer Res 2012;18:4285-90.
12. Petersen GM, de Andrade M, Goggins M, Hruban RH, Bondy M, Korczak JF, et al. Pancreatic Cancer Genetic Epidemiology (PACGENE) Consortium. Pancreatic cancer genetic epidemiology consortium. Cancer Epidemiol Biomarkers Prev 2006;15:704-10.
13. Hruban RH, Canto MI, Griffin C, Kern SE, Klein AP, Laheru D, et al. Treatment of familial pancreatic cancer and its precursors. Curr Treat Options Gastroenterol 2005;8:365-75.
14. Klein AP, Brune KA, Petersen GM, Goggins M, Tersmette AC, Offerhaus GJ, et al. Prospective risk of pancreatic cancer in familial pancreatic cancer kindreds. Cancer Res 2004;64:2634-8.
15. Shi C, Hruban RH, Klein AP. Familial pancreatic cancer. Arch Pathol Lab Med 2009;133:365-74.
16. Antoniou AC, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J Med Genet 2005;42:602-3.
17. Liede A, Karlan BY, Narod SA. Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol 2004;22:735-42.
18. Satagopan JM, Offit K, Foulkes W, Robson ME, Wacholder S, Eng CM, et al. The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev 2001;10:467-73.
19. van Asperen CJ, Brohet RM, Meijers-Heijboer EJ, Hoogerbrugge N, Verhoef S, Vasen HF, et al. Netherlands Collaborative Group on Hereditary Breast Cancer (HEBON). Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet 2005;42:711-9.
20. Bryant HE, Schultz N, Thomas HD, Parker KM, Flower D, Lopez E, et al. Specific killing of BRCA2-deficient tumours with inhibitors of poly (ADP-ribose) polymerase. Nature 2005;434:913-7.
21. Helleday T, Bryant HE, Schultz N. Poly(ADP-ribose) polymerase (PARP-1) in homologous recombination and as a target for cancer therapy. Cell Cycle 2005;4:1176-8.
22. McCabe N, Turner NC, Lord CJ, Kluzek K, Bialkowska A, Swift S, et al. Deficiency in the repair of DNA damage by homologous recombination and sensitivity to poly(ADP-ribose) polymerase inhibition. Cancer Res 2006;66:8109-15.
23. Jones S, Hruban RH, Kamiyama M, Borges M, Zhang X, Parsons DW, et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 2009;324:217.
24. Slater EP, Langer P, Niemczyk E, Strauch K, Butler J, Habbe N, et al. PALB2 mutations in European familial pancreatic cancer families. Clin Genet 2010;78:490-4.
25. Villarroel MC, Rajeshkumar NV, Garrido-Laguna I, De Jesus-Acosta A, Jones S, Maitra A, et al. Personalizing cancer treatment in the age of global genomic analyses: PALB2 gene mutations and the response to DNA damaging agents in pancreatic cancer. Mol Cancer Ther 2011;10:3-8.
26. Roberts NJ, Jiao Y, Yu J, Kopelovich L, Petersen GM, Bondy ML, et al. ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov 2012;2:41-6.
27. Hruban RH, Takaori K, Klimstra DS, Adsay NV, Albores-Saavedra J, Biankin AV, et al. An illustrated consensus on the classification of pancreatic intraepithelial neoplasia and intraductal papillary mucinous neoplasms. Am J Surg Pathol 2004;28:977-87.
28. Andea A, Sarkar F, Adsay VN. Clinicopathological correlates of pancreatic intraepithelial neoplasia: a comparative analysis of 82 cases with and 152 cases without pancreatic ductal adenocarcinoma. Mod Pathol 2003;16:996-1006.
29. Feldmann G, Beaty R, Hruban RH, Maitra A. Molecular genetics of pancreatic intraepithelial neoplasia. J Hepatobiliary Pancreat Surg 2007;14:224-32.
30. Kanda M, Matthaei H, Wu J, Hong SM, Yu J, Borges M, et al. Presence of somatic mutations in most early-stage pancreatic intraepithelial neoplasia. Gastroenterology 2012;142:730-3, e9.
31. Yachida S, Jones S, Bozic I, Antal T, Leary R, Fu B, et al. Distant metastasis occurs late during the genetic evolution of pancreatic cancer. Nature 2010;467:1114-7.
32. Iacobuzio-Donahue CA, Fu B, Yachida S, Luo M, Abe H, Henderson CM, et al. DPC4 gene status of the primary carcinoma correlates with patterns of failure in patients with pancreatic cancer. J Clin Oncol 2009;27:1806-13.
33. Haeno H, Gonen M, Davis MB, Herman JM, Iacobuzio-Donahue CA, Michor F. Computational modeling of pancreatic cancer reveals kinetics of metastasis suggesting optimum treatment strategies. Cell 2012;148:362-75.
34. Penchev VR, Rasheed ZA, Maitra A, Matsui W. Heterogeneity and targeting of pancreatic cancer stem cells. Clin Cancer Res 2012;18:4277-84.
35. Heaphy CM, de Wilde RF, Jiao Y, Klein AP, Edil BH, Shi C, et al. Altered telomeres in tumors with ATRX and DAXX mutations. Science 2011;333:425.
36. Yao JC, Shah MH, Ito T, Bohas CL, Wolin EM, Van Cutsem E, et al. RAD001 in Advanced Neuroendocrine Tumors, Third Trial (RADIANT-3) Study Group. Everolimus for advanced pancreatic neuroendocrine tumors. N Engl J Med 2011;364:514-23.
37. Abraham SC, Wu TT, Hruban RH, Lee JH, Yeo CJ, Conlon K, et al. Genetic and immunohistochemical analysis of pancreatic acinar cell carcinoma: frequent allelic loss on chromosome 11p and alterations in the APC/beta-catenin pathway. Am J Pathol 2002;160:953-62.
38. Hoorens A, Lemoine NR, McLellan E, Morohoshi T, Kamisawa T, Heitz PU, et al. Pancreatic acinar cell carcinoma. An analysis of cell lineage markers, p53 expression, and Ki-ras mutation. Am J Pathol 1993;143:685-98.
39. Terhune PG, Heffess CS, Longnecker DS. Only wild-type c-Ki-ras codons 12, 13, and 61 in human pancreatic acinar cell carcinomas. Mol Carcinog 1994;10:110-4.
40. Skoulidis F, Cassidy LD, Pisupati V, Jonasson JG, Bjarnason H, Eyfjord JE, et al. Germline Brca2 heterozygosity promotes Kras(G12D)-driven carcinogenesis in a murine model of familial pancreatic cancer. Cancer Cell 2010;18:499-509.
41. Hidalgo M, Von Hoff DD. Translational therapeutic opportunities in ductal adenocarcinoma of the pancreas. Clin Cancer Res 2012;18:4249-56.
42. Laffan TA, Horton KM, Klein AP, Berlanstein B, Siegelman SS, Kawamoto S, et al. Prevalence of unsuspected pancreatic cysts on MDCT. AJR Am J Roentgenol 2008;191:802-7.
43. Feig C, Gopinathan A, Neesse A, Chan DS, Cook N, Tuveson DA. The pancreas cancer microenvironment. Clin Cancer Res 2012;18:4266-76.