Identification and screening of individuals at increased risk for pancreatic cancer with emphasis on known environmental and genetic factors and hereditary syndromes

Journal of the Pancreas

Volumn 11, Issue 3, 2010, Pages 203-212

  Chu, David ^a   Kohlmann, Wendy ^a   Adler, Douglas G ^a  

^a UNIVERSITY OF UTAH   (United States)

Author keywords

Adenocarcinoma; Early detection of cancer; Hereditary; Neoplastic syndromes; Pancreatic neoplasms; Risk factors

Indexed keywords

BIOLOGICAL MARKER; BRCA1 PROTEIN; BRCA2 PROTEIN; CA 19-9 ANTIGEN; CA 242 ANTIGEN; GROWTH DIFFERENTIATION FACTOR 15; HAPTOGLOBIN; PYRUVATE KINASE; SERUM AMYLOID A; SOMATOMEDIN BINDING PROTEIN 1; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADENOMATOUS POLYP; ANTIGEN SPECIFICITY; BREAST CANCER; CANCER DIAGNOSIS; CANCER RISK; CANCER SCREENING; CANCER SURVIVAL; COMPUTER ASSISTED TOMOGRAPHY; CYSTIC FIBROSIS; DISEASE ASSOCIATION; ENDOSCOPIC ECHOGRAPHY; ENVIRONMENTAL FACTOR; FAMILIAL CANCER; GENE MUTATION; GENETIC DISORDER; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HEREDITY; HUMAN; MAGNETIC RESONANCE CHOLANGIOPANCREATOGRAPHY; MELANOMA; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARY CANCER; PANCREAS CANCER; PANCREATITIS; PATHOPHYSIOLOGY; PEUTZ JEGHERS SYNDROME; REVIEW; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; TUMOR SUPPRESSOR GENE;

ENVIRONMENT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MASS SCREENING; PANCREATIC NEOPLASMS; RISK FACTORS;

EID: 77953656139     PISSN: None     EISSN: 15908577     Source Type: Journal    
DOI: None     Document Type: Review

References (79)

1. Jemal A, Siegel R, Ward E, Hao Y, Xu J, Thun MJ. Cancer Statistics, 2009. CA Cancer J Clin 2009; 59:225-49. [PMID 19474385]
2. Cress RD, Yin D, Clarke L, Bold R, Holly EA. Survival among patients with adenocarcinoma of the pancreas: a population-based study (United States). Cancer Causes Control 2006; 17:403-9. [PMID 16596292]
3. Lim JE, Chien MW, Earle CC. Prognostic factors following curative resection for pancreatic adenocarcinoma: a populationbased, linked database analysis of 396 patients. Ann Surg 2003; 237:74-85. [PMID 12496533]
4. Cameron JL, Riall TS, Coleman J, Belcher KA. One thousand consecutive pancreaticoduodenectomies. Ann Surg 2006; 244:10-5. [PMID 16794383]
5. Schmidt CM, Powell ES, Yiannoutsos CT, Howard TJ, Wiebke EA, Wiesenauer CA, et al. Pancreaticoduodenectomy: a 20-year experience in 516 patients. Arch Surg 2004; 139:718-27. [PMID 15249403]
6. Crane CH, Varadhachary G, Settle SH, Fleming JB, Evans DB, Wolff RA. The integration of chemoradiation in the care of patient with localized pancreatic cancer. Cancer Radiother 2009;13:123-43. [PMID 19167921]
7. Evans DB, Varadhachary GR, Crane CH, Sun CC, Lee JE, Pisters PW, et al. Preoperative gemcitabine-based chemoradiation for patients with resectable adenocarcinoma of the pancreatic head. J Clin Oncol 2008; 26:3496-502. [PMID 18640930]
8. Varadhachary GR, Wolff RA, Crane CH, Sun CC, Lee JE, Pisters PW, et al. Preoperative gemcitabine and cisplatin followed by gemcitabine-based chemoradiation for resectable adenocarcinoma of the pancreatic head. J Clin Oncol 2008; 26:3487-95. [PMID 18640929]
9. Hansel DE, Kern SE, Hruban RH. Molecular Pathogenesis of Pancreatic Cancer. Annu Rev Genomics Hum Genet 2003; 4:237-56. [PMID 14527303]
10. Singh M, Maitra A. Precursor lesions of pancreatic cancer: molecular pathology and clinical implications. Pancreatology 2007; 7:9-19. [PMID 17449961]
11. Hruban RH, Goggins M, Parsons J, Kern SE. Progression Model for Pancreatic Cancer. Clinical Cancer Research 2000; 6:2969-72. [PMID 10955772]
12. Steinberg WM, Barkin JS, Bradley EL 3rd, DiMagno E, Layer P, Canto MI, Levy MJ. Should patients with a strong family history of pancreatic cancer be screened on a periodic basis for cancer of the pancreas? Pancreas 2009; 38:e137-50. [PMID 19550273]
13. Sugiyama M, Izumisato Y, Abe N, Masaki T, Mori T, Atomi Y. Predictive factors for malignancy in intraductal papillary-mucinous tumors of the pancreas. Br J Surg 2003; 90:1244-9. [PMID 14515294]
14. Lillemoe KD, Yeo CJ, Cameron JL. Pancreatic cancer: state-of-the-art care. CA Cancer J Clin 2000; 50:241-68. [PMID 10986966]
15. Brand RE, Lerch MM, Rubinstein WS, Neoptolemos JP, Whitcomb DC, Hruban RH, et al. Advances in counseling and surveillance of patients at risk for pancreatic cancer. Gut 2007; 56:1460-9. [PMID 17872573]
16. Lynch SM, Vrieling A, Lubin JH, Kraft P, Mendelsohn JB, Hartge P, et al. Cigarette smoking and pancreatic cancer: a pooled analysis from the pancreatic cancer cohort consortium. Am J Epidemiol 2009; 170:403-13. [PMID 19561064]
17. Li D, Morris JS, Liu J, Hassan MM, Day RS, Bondy ML, Abbruzzese JL. Body mass index and risk, age of onset, and survival in patients with pancreatic cancer. JAMA 2009; 301:2553-62. [PMID 19549972]
18. Huxley R, Ansary-Moghaddam A, Berrington de González A, Barzi F, Woodward M. Type-II diabetes and pancreatic cancer: a meta-analysis of 36 studies. Br J Cancer 2005; 92:2076-83. [PMID 15886696]
19. Furukawa H, Okada S, Saisho H, Ariyama J, Karasawa E, Nakaizumi A, et al. Clinicopathologic features of small pancreatic adenocarcinoma. A collective study. Cancer 1996; 78:986-90. [PMID 8780535]
20. Ghadirian P, Boyle P, Simard A, Baillargeon J, Maisonneuve P, Perret C. Reported family aggregation of pancreatic cancer within a population-based case-control study in the Francophone community in Montreal, Canada. Int J Pancreatol 1991; 10:183-96. [PMID 1787333]
21. 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. [PMID 15059921]
22. Brune KA, Lau B, Palmisano E, Canto M, Goggins MG, Hruban RH, Klein AP. Importance of age of onset in pancreatic cancer kindreds. J Natl Cancer Inst 2010; 102:119-26. [PMID 20068195]
23. Hahn SA, Greenhalf B, Ellis I, Sina-Frey M, Rieder H, Korte B, et al. BRCA2 germline mutations in familial pancreatic carcinoma. J Natl Cancer Inst 2003; 95:214-21. [PMID 12569143]
24. Couch FJ, Johnson MR, Rabe KG, Brune K, de Andrade M, Goggins M, et al. The prevalence of BRCA2 mutations in familial pancreatic cancer. Cancer Epidemiol Biomarkers Prev 2007; 16:342-6. [PMID 17301269]
25. Axilbund JE, Argani P, Kamiyama M, Palmisano E, Raben M, Borges M, et al. Absence of germline BRCA1 mutations in familial pancreatic cancer patients. Cancer Biol Ther 2009; 8:131-5. [PMID 19029836]
26. 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. [PMID 19635604]
27. Pogue-Geile KL, Chen R, Bronner MP, Crnogorac-Jurcevic T, Moyes KW, Dowen S, et al. Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism. PLoS Med 2006; 3:e516. [PMID 17194196]
28. Zogopoulos G, Rothenmund H, Eppel A, Ash C, Akbari MR, Hedley D, et al. The P239S palladin variant does not account for a significant fraction of hereditary or early onset pancreas cancer. Hum Genet 2007; 121:635-7. [PMID 17415588]
29. Klein AP, Borges M, Griffith M, Brune K, Hong SM, Omura N, et al. Absence of deleterious palladin mutations in patients with familial pancreatic cancer. Cancer Epidemiol Biomarkers Prev 2009; 18:1328-30. [PMID 19336541]
30. Slater E, Amrillaeva V, Fendrich V, Bartsch D, Earl J, Vitone LJ, et al. Palladin mutation causes familial pancreatic cancer: absence in European families. PLoS Med 2007; 4:e164. [PMID 17455999]
31. Schneider A, Whitcomb DC. Hereditary pancreatitis: a model for inflammatory diseases of the pancreas. Best Pract Res Clin Gastroenterol 2002; 16:347-63. [PMID 12079262]
32. Fink EN, Kant JA, Whitcomb DC. Genetic counseling for nonsyndromic pancreatitis. Gastroenterol Clin North Am 2007; 36:325-33. [PMID 17533082]
33. Lowenfels AB, Maisonneuve P, DiMagno EP, Elitsur Y, Gates LK Jr, Perrault J, Whitcomb DC. Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group. J Natl Cancer Inst 1997; 89:442-6. [PMID 9091646]
34. Lowenfels AB, Maisonneuve P, Whitcomb DC, Lerch MM, DiMagno EP. Cigarette smoking as a risk factor for pancreatic cancer in patients with hereditary pancreatitis. JAMA 2001; 286:169-70. [PMID 11448279]
35. De Boeck K, Weren M, Proesmans M, Kerem E. Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype. Pediatrics 2005; 115:e463-9. [PMID 15772171]
36. Neglia JP, FitzSimmons SC, Maisonneuve P, Schöni MH, Schöni-Affolter F, Corey M, Lowenfels AB. The risk of cancer among patients with cystic fibrosis. Cystic Fibrosis and Cancer Study Group. N Engl J Med 1995; 332:494-9. [PMID 7830730]
37. McWilliams RR, Petersen GM, Rabe KG, Holtegaard LM, Lynch PJ, Bishop MD, Highsmith WE Jr. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma. Cancer 2010; 116:203-9. [PMID 19885835]
38. Witt H, Luck W, Becker M, Böhmig M, Kage A, Truninger K, et al. Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitis. JAMA 2001; 285:2716-7. [PMID 11386926]
39. Cohn JA, Mitchell RM, Jowell PS. The impact of cystic fibrosis and PSTI/SPINK1 gene mutations on susceptibility to chronic pancreatitis. Clin Lab Med 2005; 25:79-100. [PMID 15749233]
40. Treiber M, Schlag C, Schmid RM. Genetics of pancreatitis: a guide for clinicians. Curr Gastroenterol Rep 2008; 10:122-7. [PMID 18462597]
41. Schreibman IR, Baker M, Amos C, McGarrity TJ. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol 2005; 100:476-90. [PMID 15667510]
42. 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. [PMID 11113065]
43. Sato N, Rosty C, Jansen M, Fukushima N, Ueki T, Yeo CJ, et al. STK11/LKB1 Peutz-Jeghers gene inactivation in intraductal papillary-mucinous neoplasms of the pancreas. Am J Pathol 2001; 159:2017-22. [PMID 11733352]
44. 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. Am J Pathol 1999; 154:1835-40. [PMID 10362809]
45. Easton DF, Ford D, Bishop DT. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 1995; 56:265-71. [PMID 7825587]
46. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998; 62:676-89. [PMID 9497246]
47. Shi C, Hruban RH, Klein AP. Familial Pancreatic Cancer. Arch Pathol Lab Med 2009; 133:365-74. [PMID 19260742]
48. Roa BB, Boyd AA, Volcik K, Richards CS. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 1996; 14:185-7. [PMID 8841191]
49. Florell SR, Boucher KM, Garibotti G, Astle J, Kerber R, Mineau G, et al. Population-based analysis of prognostic factors and survival in familial melanoma. J Clin Oncol 2005; 23:7166-77. [PMID 16192601]
50. Goldstein AM, Chan M, Harland M, Gillanders EM, Hayward NK, Avril MF, et al. High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res 2006; 66:9818-28. [PMID 17047042]
51. Kastrinos F, Mukherjee B, Tayob N, Wang F, Sparr J, Raymond VM, et al. Risk of pancreatic cancer in families with Lynch syndrome. JAMA 2009; 302:1790-5. [PMID 19861671]
52. Hall MJ, Dignam JJ, Olopade OI. Family history of pancreatic cancer in a high-risk cancer clinic: implications for risk assessment. J Genet Couns 2008; 17:365-72. [PMID 18581219]
53. Myriad Genetic Laboratory website. Answer to the question: Will my health insurance pay for the test?. Frequently Asked Questions: http://www.bracnow.com/faqs/#75. Accessed Dec 14, 2009.
54. Hudson KL, Holohan MK, Collins FS. Keeping pace with the times-the Genetic Information Nondiscrimination Act of 2008. N Engl J Med 2008; 358:2661-3. [PMID 18565857]
55. Goonetilleke KS, Siriwardena AK. Systematic review of carbohydrate antigen (CA 19-9) as a biochemical marker in the diagnosis of pancreatic cancer. Eur J Surg Oncol 2007; 33:266-70. [PMID 17097848]
56. Duffy MJ, Sturgeon C, Lamerz R, Haglund C, Holubec VL, Klapdor R, et al. Tumor markers in pancreatic cancer: a European Group on Tumor Markers (EGTM) status report. Ann Oncol 2010; 21:441-7. [PMID 19690057]
57. Mann DV, Edwards R, Ho S, Lau WY, Glazer G. Elevated tumour marker CA19-9: clinical interpretation and influence of obstructive jaundice. Eur J Surg Oncol 2000; 26:474-9. [PMID 11016469]
58. Steinberg W. The clinical utility of the CA 19-9 tumorassociated antigen. Am J Gastroenterol 1990; 85:350-5. [PMID 2183589]
59. Däbritz J, Hänfler J, Preston R, Stieler J, Oettle H. Detection of Ki-ras mutations in tissue and plasma samples of patients with pancreatic cancer using PNA-mediated PCR clamping and hybridisation probes. Br J Cancer 2005; 92:405-12. [PMID 15655549]
60. Teich N, Mossner J. Molecular analysis of pancreatic juice: a helpful tool to differentiate benign and malignant pancreatic tumors? Dig Dis 2004; 22:235-8. [PMID 15753605]
61. Berndt C, Haubold K, Wenger F, Brux B, Müller J, Bendzko P, et al. K-ras mutations in stools and tissue samples from patients with malignant and nonmalignant pancreatic diseases. Clin Chem 1998; 44:2103-7. [PMID 9761241]
62. Garcea G, Neal CP, Pattenden CJ, Steward WP, Berry DP. Molecular prognostic markers in pancreatic cancer: a systematic review. Eur J Cancer 2005; 41:2213-36. [PMID 16146690]
63. Levi E, Klimstra DS, Adsay NV, Andea A, Basturk O. MUC1 and MUC2 in pancreatic neoplasia. J Clin Pathol 2004; 57:456-62. [PMID 15113850]
64. Swartz MJ, Batra SK, Varshney GC, Hollingsworth MA, Yeo CJ, Cameron JL, et al. MUC4 expression increases progressively in pancreatic intraepithelial neoplasia. Am J Clin Pathol 2002; 117:791-6. [PMID 12090430]
65. Wang Y, Gao J, Li Z, Jin Z, Gong Y, Man X. Diagnostic value of mucins (MUC1, MUC2 and MUC5AC) expression profile in endoscopic ultrasound-guided fine-needle aspiration specimens of the pancreas. Int J Cancer 2007; 121:2716-22. [PMID 17708554]
66. Lee EJ, Gusev Y, Jiang J, Nuovo GJ, Lerner MR, Frankel WL, et al. Expression profiling identifies microRNA signature in pancreatic cancer. Int J Cancer 2006; 120:1046-54. [PMID 17149698]
67. Bloomston M, Frankel WL, Petrocca F, Volinia S, Alder H, Hagan JP, et al. MicroRNA expression patterns to differentiate pancreatic adenocarcinomas from normal pancreas and chronic pancreatitis. JAMA 2007; 297:1901-8. [PMID 17473300]
68. Legmann P, Vignaux O, Dousset B, Baraza AJ, Palazzo L, Dumontier I, et al. Pancreatic tumors: comparison of dual phase helical CT and endoscopic sonography. AJR Am J Roentgenol 1998; 170:1315-22. [PMID 9574609]
69. 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. [PMID 15224285]
70. Canto MI, Goggins M, Hruban RH, Petersen GM, Giardiello FM, Yeo C, et al. Screening for early pancreatic neoplasia in highrisk individuals: a prospective controlled study. Clin Gastroenterol Hepatol 2006; 4:766-81. [PMID 16682259]
71. Irisawa A, Sato A, Sato M, Ikeda T, Suzuki R, Ohira H. Early diagnosis of small pancreatic cancer: role of endoscopic ultrasonography. Dig Endosc 2009; 21(Suppl. 1):S92-6. [PMID 19691746]
72. Topazian M, Enders F, Kimmey M, Brand R, Chak A, Clain J, et al. Interobserver agreement for EUS findings in familial pancreaticcancer kindreds. Gastrointest Endosc 2007; 66:62-7. [PMID 17382940]
73. 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. [PMID 10454945]
74. Poley JW, Kluijt I, Gouma DJ, Harinck F, Wagner A, Aalfs C, et al. The yield of first-time endoscopic ultrasonography in screening individuals at a high risk of developing pancreatic cancer. Am J Gastroenterol 2009; 104:2175-81. [PMID 19491823]
75. 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. [PMID 19470496]
76. National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast and Ovarian (Version V.1.2009). The NCCN Clinical Practice Guidelines in Oncology. http://www.nccn.org/professionals/physician_gls/PDF/genetics_screening.pdf. Accessed 12/23/2009.
77. National Comprehensive Cancer Network. Colorectal Cancer Screening (Version V.1.2010). The NCCN Clinical Practice Guidelines in Oncology. http://www.nccn.org/professionals/physician_gls/PDF/cervical_screening.pdf. Accessed 12/23/2009.
78. van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME. High cancer risk in Peutz-Jeghers syndrome: A systematic review and surveillance recommendations. Am J Gastroenterool 2010 Jan 5. [PMID 20051941]
79. Rosendahl J, Bodeker H, Mossner J, Teich N. Hereditary chronic pancreatitis. Orphanet J Rare Dis 2007; 2:1. [PMID 17204147]