Genome-wide somatic copy number alterations in low-grade panINs and IPMNs from individuals with a family history of pancreatic cancer

Clinical Cancer Research

Volumn 18, Issue 16, 2012, Pages 4303-4312

  Hong, Seung Mo ^a,c   Vincent, Audrey ^a   Kanda, Mitsuro ^a   Leclerc, Julie ^a   Omura, Noriyuki ^a   Borges, Michael ^a   Klein, Alison P ^a,b   Canto, Marcia Irene ^a   Hruban, Ralph H ^a   Goggins, Michael ^a  

^a DEPARTMENT OF PATHOLOGY   (United States)

^b JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^c University of Ulsan College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CANCER SUSCEPTIBILITY; CHROMOSOME 17Q; CHROMOSOME 6Q; CHROMOSOME LOSS; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; COPY NUMBER VARIATION; DYSPLASIA; FAMILY HISTORY; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC GAIN; HUMAN; HUMAN TISSUE; INTRADUCTAL PAPILLARY MUCINOUS TUMOR; KRAS GENE; MALE; ONCOGENE; PANCREAS ADENOCARCINOMA; PANCREAS ADENOMA; PANCREAS CANCER; PANCREAS ISLET CELL TUMOR; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; CARCINOMA, PANCREATIC DUCTAL; DNA COPY NUMBER VARIATIONS; FAMILY; FEMALE; GENES, RAS; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; MUTATION; NEOPLASM GRADING; PANCREATIC NEOPLASMS;

EID: 84865068802     PISSN: 10780432     EISSN: 15573265     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-12-1075     Document Type: Article

References (49)

1. Petersen GM, de Andrade M, Goggins M, Hruban RH, Bondy M, Korczak JF, et al. Pancreatic cancer genetic epidemiology consortium. Cancer Epidemiol Biomarkers Prev 2006;15:704-10.
2. 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.
3. 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.
4. Shi C, Hruban RH, Klein AP. Familial pancreatic cancer. Arch Pathol Lab Med 2009;133:365-74.
5. Permuth-Wey J, Egan KM. Family history is a significant risk factor for pancreatic cancer: results from a systematic review and meta-analysis. Fam Cancer 2009;8:109-17.
6. Goggins M, Schutte M, Lu J, Moskaluk CA, Weinstein CL, Petersen GM, et al. Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res 1996;56:5360-4.
7. Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000;119:1447-53.
8. Petersen GM, Amundadottir L, Fuchs CS, Kraft P, Stolzenberg-Solomon RZ, Jacobs KB, et al. A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. Nat Genet 2010;42:224-8.
9. Raimondi S, Maisonneuve P, Lowenfels AB. Epidemiology of pancreatic cancer: an overview. Nat Rev Gastroenterol Hepatol 2009;6:699-708.
10. Lord CJ, Ashworth A. Targeted therapy for cancer using PARP inhibitors. Curr Opin Pharmacol 2008;8:363-9.
11. Williamson CT, Muzik H, Turhan AG, Zamo A, O'Connor MJ, Bebb DG, et al. ATM deficiency sensitizes mantle cell lymphoma cells to poly (ADP-ribose) polymerase-1 inhibitors. Mol Cancer Ther 2010;9:347-57.
12. 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.
13. Brune K, Abe T, Canto M, O'Malley L, Klein AP, Maitra A, et al. Multifocal neoplastic precursor lesions associated with lobular atrophy of the pancreas in patients having a strong family history of pancreatic cancer. Am J Surg Pathol 2006;30:1067-76.
14. Canto MI, Goggins M, Yeo CJ, Griffin C, Axilbund JE, Brune K, et al. Screening for pancreatic neoplasia in high-risk individuals: an EUS-based approach. Clin Gastroenterol Hepatol 2004;2:606-21.
15. Brentnall TA, Bronner MP, Byrd DR, Haggitt RC, Kimmey MB. Early diagnosis and treatment of pancreatic dysplasia in patients with a family history of pancreatic cancer. Ann Intern Med 1999;131:247-55.
16. Ludwig E, Olson SH, Bayuga S, Simon J, Schattner MA, Gerdes H, et al. Feasibility and yield of screening in relatives from familial pancreatic cancer families. Am J Gastroenterol 2011;106:946-54.
17. Verna EC, Hwang C, Stevens PD, Rotterdam H, Stavropoulos SN, Sy CD, et al. Pancreatic cancer screening in a prospective cohort of high-risk patients: a comprehensive strategy of imaging and genetics. Clin Cancer Res 2010;16:5028-37.
18. Langer P, Kann PH, Fendrich V, Habbe N, Schneider M, Sina M, et al. Five years of prospective screening of high-risk individuals from families with familial pancreatic cancer. Gut 2009;58:1410-8.
19. Canto MI, Hruban RH, Fishman EK, Kamel IR, Schulick R, Zhang Z, et al. Frequent detection of pancreatic lesions in asymptomatic high-risk individuals. Gastroenterology 2012;142:796-804. quiz e14-5.
20. Shi C, Klein AP, Goggins M, Maitra A, Canto M, Ali S, et al. Increased prevalence of precursor lesions in familial pancreatic cancer patients. Clin Cancer Res 2009;15:7737-43.
21. van Heek NT, Meeker AK, Kern SE, Yeo CJ, Lillemoe KD, Cameron JL, et al. Telomere shortening is nearly universal in pancreatic intraepithelial neoplasia. Am J Pathol 2002;161:1541-7.
22. Moskaluk CA, Hruban RH, Kern SE. p16 and K-ras gene mutations in the intraductal precursors of human pancreatic adenocarcinoma. Cancer Res 1997;57:2140-3.
23. Wilentz RE, Iacobuzio-Donahue CA, Argani P, McCarthy DM, Parsons JL, Yeo CJ, et al. Loss of expression of Dpc4 in pancreatic intraepithelial neoplasia: evidence that DPC4 inactivation occurs late in neoplastic progression. Cancer Res 2000;60:2002-6.
24. Hruban RH, Maitra A, Goggins M. Update on pancreatic intraepithelial neoplasia. Int J Clin Exp Pathol 2008;1:306-16.
25. 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.
26. Hruban RH, Goggins M, Parsons J, Kern SE. Progression model for pancreatic cancer. Clin Cancer Res 2000;6:2969-72.
27. Luttges J, Galehdari H, Brocker V, Schwarte-Waldhoff I, Henne-Bruns D, Kloppel G, et al. Allelic loss is often the first hit in the biallelic inactivation of the p53 and DPC4 genes during pancreatic carcinogenesis. Am J Pathol 2001;158:1677-83.
28. Abe T, Fukushima N, Brune K, Boehm C, Sato N, Matsubayashi H, et al. Genome-wide allelotypes of familial pancreatic adenocarcinomas and familial and sporadic intraductal papillary mucinous neoplasms. Clin Cancer Res 2007;13:6019-25.
29. Calhoun ES, Hucl T, Gallmeier E, West KM, Arking DE, Maitra A, et al. Identifying allelic loss and homozygous deletions in pancreatic cancer without matched normals using high-density single-nucleotide polymorphism arrays. Cancer Res 2006;66:7920-8.
30. Hruban RH, Pitman MB, Klimstra DS. Tumors of the pancreas. AFIP atlas of tumor pathology Series 4. Washington, DC: American Registry of Pathology and American Forces Institute of Pathology; 2007.
31. Bosman FT, Carneiro F, Hruban RH, Theise ND, editors. WHO classification of tumours of the digestive system. 4th ed. Lyon, France: IARC; 2010.
32. Tsiatis AC, Norris-Kirby A, Rich RG, Hafez MJ, Gocke CD, Eshleman JR, et al. Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implications. J Mol Diagn 2010;12:425-32.
33. Erali M, Wittwer CT. High resolution melting analysis for gene scanning. Methods 2010;50:250-61.
34. Pugh TJ, Delaney AD, Farnoud N, Flibotte S, Griffith M, Li HI, et al. Impact of whole genome amplification on analysis of copy number variants. Nucleic Acids Res 2008;36:e80.
35. Lohr M, Kloppel G, Maisonneuve P, Lowenfels AB, Luttges J. Frequency of K-ras mutations in pancreatic intraductal neoplasias associated with pancreatic ductal adenocarcinoma and chronic pancreatitis: a meta-analysis. Neoplasia 2005;7:17-23.
36. Su GH, Hruban RH, Bansal RK, Bova GS, Tang DJ, Shekher MC, et al. Germline and somatic mutations of the STK11/LKB1 Peutz-Jeghers gene in pancreatic and biliary cancers.AmJ Pathol 1999;154:1835-40.
37. Schutte M, Hruban RH, Geradts J, Maynard R, Hilgers W, Rabindran SK, et al. Abrogation of the Rb/p16 tumor-suppressive pathway in virtually all pancreatic carcinomas. Cancer Res 1997;57:3126-30.
38. Miyoshi Y, Nagase H, Ando H, Horii A, Ichii S, Nakatsuru S, et al. Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum Mol Genet 1992;1:229-33.
39. Miyaki M, Konishi M, Kikuchi-Yanoshita R, Enomoto M, Igari T, Tanaka K, et al. Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. Cancer Res 1994;54:3011-20.
40. Spirio LN, Samowitz W, Robertson J, Robertson M, Burt RW, Leppert M, et al. Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps. Nat Genet 1998;20:385-8.
41. Goggins M, Hruban RH, Kern SE. BRCA2 is inactivated late in the development of pancreatic intraepithelial neoplasia: evidence and implications. Am J Pathol 2000;156:1767-71.
42. Brune K, Hong SM, Li A, Yachida S, Abe T, Griffith M, et al. Genetic and epigenetic alterations of familial pancreatic cancers. Cancer Epidemiol Biomarkers Prev 2008;17:3536-42.
43. 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.
44. 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.
45. Tischkowitz MD, Sabbaghian N, Hamel N, Borgida A, Rosner C, Taherian N, et al. Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer. Gastroenterology 2009;137:1183-6.
46. Walter K, Omura N, Hong SM, Griffith M, Goggins M. Pancreatic cancer associated fibroblasts display normal allelotypes. Cancer Biol Ther 2008;7:882-8.
47. Harada T, Chelala C, Bhakta V, Chaplin T, Caulee K, Baril P, et al. Genome-wide DNA copy number analysis in pancreatic cancer using high-density single nucleotide polymorphism arrays. Oncogene 2008;27:1951-60.
48. Lin LJ, Asaoka Y, Tada M, Sanada M, Nannya Y, Tanaka Y, et al. Integrated analysis of copy number alterations and loss of heterozygosity in human pancreatic cancer using a high-resolution, single nucleotide polymorphism array. Oncology 2008;75:102-12.
49. 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.