Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer

Gastroenterology

Volumn 148, Issue 3, 2015, Pages 556-564

  Grant, Robert C ^a,b   Selander, Iris ^e   Connor, Ashton A ^c   Selvarajah, Shamini ^d   Borgida, Ayelet ^e   Briollais, Laurent ^e   Petersen, Gloria M ^g   Lerner Ellis, Jordan ^a,d,f   Holter, Spring ^e   Gallinger, Steven ^a,c,e  

^a ONTARIO INSTITUTE FOR CANCER RESEARCH   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY HEALTH NETWORK   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e ST MICHAEL'S HOSPITAL   (Canada)

^f Pediatric Oral and Maxillofacial Surgery   (Canada)

^g MAYO CLINIC   (United States)

Author keywords

Cancer Risk; Familial Pancreatic Cancer; Pancreatic Cancer Genetics

Indexed keywords

APC PROTEIN; ATM PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; CYCLIN DEPENDENT KINASE INHIBITOR 2A; MISMATCH REPAIR PROTEIN PMS2; NUCLEAR PROTEIN; PROTEIN KINASE LKB1; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; PROTEIN P53; PROTEIN PALB2; PROTEIN PRSS1; UNCLASSIFIED DRUG; NEURONAL NITRIC OXIDE SYNTHASE; NOS1 PROTEIN, HUMAN;

ADULT; ARTICLE; BREAST CANCER; CANADA; CANCER SUSCEPTIBILITY; COLORECTAL CANCER; FAMILY HISTORY; FEMALE; GENETIC PREDISPOSITION; GERMLINE MUTATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEXT GENERATION SEQUENCING; PANCREAS CANCER; PREVALENCE; PRIORITY JOURNAL; TUMOR GENE; ALCOHOL LIVER DISEASE; ESOPHAGUS ACHALASIA; GENETICS; IMMUNOLOGY; LIVER TRANSPLANTATION; NON-ALCOHOLIC FATTY LIVER DISEASE; PANCREAS TUMOR; TRENDS;

ESOPHAGEAL ACHALASIA; GENES, NEOPLASM; HEPATITIS, ALCOHOLIC; HUMANS; LIVER TRANSPLANTATION; NITRIC OXIDE SYNTHASE TYPE I; NON-ALCOHOLIC FATTY LIVER DISEASE; PANCREATIC NEOPLASMS;

EID: 84923917285     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2014.11.042     Document Type: Article

References (68)

1. Z.S. Kanji, and S. Gallinger Diagnosis and management of pancreatic cancer CMAJ 185 2013 1219 1226
2. M.A. Tempero, J.P. Arnoletti, and S.W. Behrman Pancreatic adenocarcinoma, version 2.2012: featured updates to the NCCN Guidelines J Natl Compr Canc Netw 10 2012 703 713
3. R. Siegel, J. Ma, and Z. Zou Cancer statistics CA Cancer J Clin 2014 64 2014 9 29
4. H.A. Risch, J.R. McLaughlin, and D.E. Cole Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada J Natl Cancer Inst 98 2006 1694 1706
5. A. Moran, C. O'Hara, and S. Khan Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations Fam Cancer 11 2012 235 242
6. C.J. van Asperen, R.M. Brohet, and E.J. Meijers-Heijboer Cancer risks in BRCA2 families: estimates for sites other than breast and ovary J Med Genet 42 2005 711 719
7. K.M. Lin, M. Shashidharan, and A.G. Thorson Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer J Gastrointest Surg 2 1998 67 71
8. A. Umar, C.R. Boland, and J.P. Terdiman Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 2004 261 268
9. A.K. Win, N.M. Lindor, and J.P. Young Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome J Natl Cancer Inst 104 2012 1363 1372
10. F. Kastrinos, B. Mukherjee, and N. Tayob Risk of pancreatic cancer in families with Lynch syndrome JAMA 302 2009 1790 1795
11. M.W. Ruijs, S. Verhoef, and M.A. Rookus TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes J Med Genet 47 2010 421 428
12. S. Jones, R.H. Hruban, and M. Kamiyama Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene Science 324 2009 217
13. N.J. Roberts, Y. Jiao, and J. Yu ATM mutations in patients with hereditary pancreatic cancer Cancer Discov 2 2012 41 46
14. D.R. Fogelman, R.A. Wolff, and S. Kopetz Evidence for the efficacy of Iniparib, a PARP-1 inhibitor, in BRCA2-associated pancreatic cancer Anticancer Res 31 2011 1417 1420
15. B. Tran, S. Moore, and G. Zogopoulos Platinum-based chemotherapy in pancreatic adenocarcinoma associated with BRCA mutations: a translational case series J Clin Oncol 30 2012 Abstract 217
16. W. Al-Sukhni, A. Borgida, and H. Rothenmund Screening for pancreatic cancer in a high-risk cohort: an eight-year experience J Gastrointest Surg 16 2012 771 783
17. A. Sud, D. Wham, and M. Catalano Promising outcomes of screening for pancreatic cancer by genetic testing and endoscopic ultrasound Pancreas 43 2014 458 461
18. J.S. Berek, E. Chalas, and M. Edelson Prophylactic and risk-reducing bilateral salpingo-oophorectomy: recommendations based on risk of ovarian cancer Obstetr Gynecol 116 2010 733 743
19. L.C. Hartmann, T.A. Sellers, and D.J. Schaid Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers J Natl Cancer Inst 93 2001 1633 1637
20. W. Al-Sukhni, M. Aronson, and S. Gallinger Hereditary colorectal cancer syndromes: familial adenomatous polyposis and lynch syndrome Surg Clin North Am 88 2008 819 844 vii
21. A.E. Borgida, S. Ashamalla, and W. Al-Sukhni Management of pancreatic adenocarcinoma in Ontario, Canada: a population-based study using novel case ascertainment Can J Surg 54 2011 54 60
22. Y. Choi, and L. Briollais An EM composite likelihood approach for multistage sampling of family data Stat Sinica 21 2011 231 253
23. H. Li, and R. Durbin Fast and accurate long-read alignment with Burrows-Wheeler transform Bioinformatics 26 2010 589 595
24. A. McKenna, M. Hanna, and E. Banks The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data Genome Res 20 2010 1297 1303
25. K. Wang, M. Li, and H. Hakonarson ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res 38 2010 e164
26. G.R. Abecasis, A. Auton, and L.D. Brooks An integrated map of genetic variation from 1,092 human genomes Nature 491 2012 56 65
27. S.T. Sherry, M.H. Ward, and M. Kholodov dbSNP: the NCBI database of genetic variation Nucleic Acids Res 29 2001 308 311
28. M.P. Vallee, T.C. Francy, and M.K. Judkins Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs Hum Mutat 33 2012 22 28
29. InSIGHT Consortium Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database Nat Genet 46 2014 107 115
30. H. Thorvaldsdottir, J.T. Robinson, and J.P. Mesirov Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration Brief Bioinform 14 2013 178 192
31. R.C. Grant, W. Al-Sukhni, and A.E. Borgida Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer Hum Genomics 7 2013 11
32. J. Bacani, R. Zwingerman, and N. Di Nicola Tumor microsatellite instability in early onset gastric cancer J Mol Diagn 7 2005 465 477
33. T. Lumley Complex surveys: a guide to analysis using R 2010 Wiley Hoboken, NJ
34. T. Lumley Analysis of complex survey samples J Stat Software 9 2004 1 19
35. K.P. Lowry, J.M. Lee, and C.Y. Kong Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers: a comparative effectiveness analysis Cancer 118 2012 2021 2030
36. S.W. Duffy, and R.M. Nixon Estimates of the likely prophylactic effect of tamoxifen in women with high risk BRCA1 and BRCA2 mutations Br J Cancer 86 2002 218 221
37. H.F. Vasen, I. Blanco, and K. Aktan-Collan Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts Gut 62 2013 812 823
38. NHS Cancer Screening Programs. Protocols for the surveillance of women at higher risk of developing breast cancer, version 4. Volume 74. 2013.
39. M.D. Tischkowitz, N. Sabbaghian, and N. Hamel Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer Gastroenterology 137 2009 1183 1186
40. Z.K. Stadler, E. Salo-Mullen, and S.M. Patil Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer Cancer 118 2012 493 499
41. E.P. Slater, P. Langer, and V. Fendrich Prevalence of BRCA2 and CDKN2a mutations in German familial pancreatic cancer families Fam Cancer 9 2010 335 343
42. H. Ozcelik, B. Schmocker, and N. Di Nicola Germline BRCA2 6174delT mutations in Ashkenazi Jewish pancreatic cancer patients Nat Genet 16 1997 17 18
43. K.M. Murphy, K.A. Brune, and C. Griffin Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17% Cancer Res 62 2002 3789 3793
44. A.L. Lucas, R. Shakya, and M.D. Lipsyc High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions Clin Cancer Res 19 2013 3396 3403
45. M. Lawniczak, A. Gawin, and A. Bialek Is there any relationship between BRCA1 gene mutation and pancreatic cancer development? Pol Arch Med Wewn 118 2008 645 649
46. G. Lal, G. Liu, and B. Schmocker Inherited predisposition to pancreatic adenocarcinoma: role of family history and germ-line p16, BRCA1, and BRCA2 mutations Cancer Res 60 2000 409 416
47. Y. Laitman, L. Herskovitz, and T. Golan The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer Fam Cancer 11 2012 243 247
48. M. Goggins, M. Schutte, and J. Lu Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas Cancer Res 56 1996 5360 5364
49. P. Ghiorzo, V. Pensotti, and G. Fornarini Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy Fam Cancer 11 2012 41 47
50. P. Ghiorzo, G. Fornarini, and S. Sciallero CDKN2A is the main susceptibility gene in Italian pancreatic cancer families J Med Genet 49 2012 164 170
51. S. Gargiulo, M. Torrini, and S. Ollila Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome Fam Cancer 8 2009 547 553
52. F.J. Couch, M.R. Johnson, and K.G. Rabe The prevalence of BRCA2 mutations in familial pancreatic cancer Cancer Epidemiol Biomarkers Prev 16 2007 342 346
53. J.E. Axilbund, P. Argani, and M. Kamiyama Absence of germline BRCA1 mutations in familial pancreatic cancer patients Cancer Biol Ther 8 2009 131 135
54. A. Blanco, M. de la Hoya, and A. Osorio Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases PLoS One 8 2013 e67538
55. F. Harinck, I. Kluijt, and S.E. van Mil Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated Eur J Hum Genet 20 2012 577 579
56. X.R. Yang, L. Jessop, and T. Myers Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer Fam Cancer 10 2011 545 548
57. B.F. El-Rayes, P. Jasti, and R.K. Severson Impact of race, age, and socioeconomic status on participation in pancreatic cancer clinical trials Pancreas 39 2010 967 971
58. A.W. Kurian, E.E. Hare, and M.A. Mills Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment J Clin Oncol 32 2014 2001 2009
59. S.M. Domchek, A. Bradbury, and J.E. Garber Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol 31 2013 1267 1270
60. A.W. Kurian, E.E. Hare, and M.A. Mills Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment J Clin Oncol 32 2014 2001 2009
61. T. Walsh, S. Casadei, and M.K. Lee Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing Proc Natl Acad Sci U S A 108 2011 18032 18037
62. N. Tung, C. Battelli, and B. Allen Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel Cancer 121 2015 25 33
63. M.B. Daly, R. Pilarski, and J.E. Axilbund Genetic/familial high-risk assessment: breast and ovarian, version 1.2014 J Natl Compr Canc Netw 12 2014 1326 1338
64. S. Simchoni, E. Friedman, and B. Kaufman Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population Proc Natl Acad Sci U S A 103 2006 3770 3774
65. A. Antoniou, P.D. Pharoah, and S. Narod Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies Am J Hum Genet 72 2003 1117 1130
66. J.G. Dowty, A.K. Win, and D.D. Buchanan Cancer risks for MLH1 and MSH2 mutation carriers Hum Mutat 34 2013 490 497
67. A.V. Biankin, N. Waddell, and K.S. Kassahn Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes Nature 491 2012 399 405
68. G.M. Petersen, M. de Andrade, and M. Goggins Pancreatic cancer genetic epidemiology consortium Cancer Epidemiol Biomarkers Prev 15 2006 704 710