Genetics of pancreatic cancer: From genes to families

Surgical Oncology Clinics of North America

Volumn 7, Issue 1, 1998, Pages 1-23

  Hruban, R H ^a   Petersen, G M ^a   Ha, P K ^a   Kern, S E ^a  

^a JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA2 PROTEIN; PROTEIN P16; PROTEIN P53;

CANCER REGISTRY; DNA HYBRIDIZATION; FAMILIAL CANCER; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; KARYOTYPING; ONCOGENE K RAS; PANCREAS ADENOCARCINOMA; PANCREAS CANCER; REVIEW; TUMOR SUPPRESSOR GENE;

EID: 0031909196     PISSN: 10553207     EISSN: None     Source Type: Journal    
DOI: 10.1016/s1055-3207(18)30282-5     Document Type: Review

References (121)

1. Aaltonen L.A. Peltomaki P. Mecklin J-P Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients Cancer Res 54 1994 1645 1648
2. Achille A. Biasi M.O. Zamboni G. Chromosome 7q allelic losses in pancreatic carcinoma Cancer Res 56 1996 3808 3813
3. Bardi G. Johansson B. Pandis N. Karyotypic abnormalities in tumours of the pancreas Br J Cancer 67 1993 1106 1112
4. Barrett M.T. Schutte M. Kern S.E. Allelic loss and mutational analysis of the DPC4 gene in esophageal adenocarcinoma Cancer Res 56 1996 4351 4353
5. Bartsch D. Shevlin D.W. Tung W.S. Frequent mutations of CDKN2 in primary pancreatic adenocarcinomas Genes Chromosom Cancer 14 1995 189 195
6. Bates S. Vousden K.H. p53 in signaling checkpoint arrest or apoptosis Curr Opin Genet Dev 6 1996 12 19
7. Beck N.E. Tomlison I.P. Homfray T. Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria Hum Genet 99 1997 219 224
8. Berman D.B. Costalas J. Schultz D.C. A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals Cancer Res 56 1996 3409 3414
9. Berthélemy P. Bouisson M. Escourrou J. Identification of K-ras mutations in pancreatic juice in the early diagnosis of pancreatic cancer Ann Intern Med 123 1995 188 191
10. Birch J.M. Hartley A.I. Tricker K.J. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families Cancer Res 54 1994 1298 1304
11. Bowlby L.S. Pancreatic adenocarcinoma in an adolescent male with Peutz-Jeghers syndrome Hum Pathol 17 1986 97 99
12. Brat D.J. Hahn S.A. Griffin C.A. The structural basis of molecular genetic deletions: An integration of classical cytogenetic and molecular analyses in pancreatic adenocarcinoma Am J Pathol 150 1997 383 391
13. Brentnall T.A. Chen R. Kimmey M.B. Ras mutations and microsatellite instability detected in ERCP-derived pancreatic juice from patients with pancreatic cancer [abstract] Gastroenterology 108 1995 A452
14. Caldas C. Hahn S.A. da Costa L.T. Frequent somatic mutations and homozygous deletions of the pl6 ( MTSI ) gene in pancreatic adenocarcinoma Nat Genet 8 1994 27 32
15. Caldas C. Hahn S.A. Hruban R.H. Detection of K-ras mutations in the stool of patients with pancreatic adenocarcinoma and pancreatic ductal hyperplasia Cancer Res 54 1994 3568 3573
16. Casey G. Yamanaka Y. Friess H. p53 mutations are common in pancreatic cancer and are absent in chronic pancreatitis Cancer Lett 69 1993 151 160
17. Chari S.T. Mohan V. Pitchumoni C.S. Risk of pancreatic carcinoma in tropical calcifying pancreatitis: An epidemiologic study Pancreas 9 1994 62 66
18. Couch F.J. Farid L.M. DeShano M.L. BRCA2 germline mutations in male breast cancer cases and breast cancer families Nat Genet 13 1996 123 125
19. Dat N. Sontag S. Pancreatic carcinoma in brothers Ann Intern Med 97 1982 282
20. Derynck R. Gelbart W.M. Harland R.M. Nomenclature: Vertebrate mediators of TGF-beta family signals Cell 87 1996 173
21. DiGiuseppe J.A. Hruban R.H. Goodman S.N. Overexpression of p53 protein in adenocarcinoma of the pancreas Am J Clin Pathol 101 1994 684 688
22. DiGiuseppe J.A. Hruban R.H. Offerhaus G.J.A. Detection of K-ras mutations in mucinous pancreatic duct hyperplasia from a patient with a family history of pancreatic carcinoma Am J Pathol 144 1994 889 895
23. DiGiuseppe J.A. Redston M.S. Yeo C.J. p53-independent expression of the cyclin dependent kinase inhibitor p21 in pancreatic carcinoma Am J Pathol 147 1995 884 888
24. DiGiuseppe J.A. Yeo C.J. Hruban R.H. Molecular biology and the diagnosis and treatment of adenocarcinoma of the pancreas Advances in Anatomic Pathology 3 1996 139 155
25. Ehrenthal D. Haeger L. Griffin T. Familial pancreatic adenocarcinoma in three generations Cancer 59 1987 1661 1664
26. Ekbom A. McLaughlin J.K. Karlsson B. Pancreatitis and pancreatic cancer: A population-based study J Natl Cancer Inst 86 1994 625 627
27. Eyrjord J.E. Thorlacius S. Steinarsdottir M. p53 abnormalities and genomic instability in primary human breast carcinomas Cancer Res 55 1995 646 651
28. Fearon E.R. Vogelstein B. A genetic model for colorectal tumorigenesis Cell 61 1990 759 767
29. Fernandez E. La Vecchia C. D’Avanzo B. Family history and the risk of liver, gallbladder, and pancreatic cancer Cancer Epidemiol Biomarkers Prev 3 1994 209 212
30. Fitzgibbons R.J. Jr. Lynch H.T. Stanislav G.V. Recognition and treatment of patients with hereditary nonpolyposis colon cancer (Lynch Syndrome I and II) Ann Surg 206 1987 289 295
31. Ghadirian P. Boyle P. Simard A. Reported family aggregation of pancreatic cancer within a population-based case-control study in the francophone community in Montreal, Canada Int J Pancreatol 10 1991 183 196
32. Giardiello F.M. Welsh S.B. Hamilton S.R. Increased risk of cancer in the Peutz-Jeghers syndrome N Engl J Med 316 1987 1511 1514
33. Goggins M. Schutte M. Lu J. Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas Cancer Res 56 1996 5360 5364
34. Goldstein A.M. Fraser M.C. Struewing J.P. Increased risk of pancreatic cancer in melanoma-prone kindreds with pi 6 mutations N Engl J Med 333 1995 970 974
35. Gorunova L. Johansson B. Dawiskiba S. Massive cytogenetic heterogeneity in a pancreatic carcinoma: Fifty-four karyotypically unrelated clones Genes Chromosom Cancer 14 1995 259 266
36. Griffin C.A. Hruban R.H. Long P.P. Chromosome abnormalities in pancreatic adenocarcinoma Genes Chromosom Cancer 9 1994 93 100
37. Griffin C.A. Hruban R.H. Morsberger L.A. Consistent chromosome abnormalities in adenocarcinoma of the pancreas Cancer Res 55 1995 2394 2399
38. Grünewald K. Lyons J. Fröhlich A. High frequency of Ki-ras codon 12 mutations in pancreatic adenocarcinomas Int J Cancer 43 1989 1037 1041
39. Hahn S.A. Hoque A.T.M.S. Moskaluk C.A. Homozygous deletion map at 18q21.1 in pancreatic cancer Cancer Res 56 1996 490 494
40. Hahn S.A. Schutte M. Hoque A.T.M.S. DPC4; A candidate tumor suppressor gene at human chromosome 18q21.1 Science 271 1996 350 353
41. Hahn S.A. Seymour A.B. Hoque A.T.M.S. Allelotype of pancreatic adenocarcinoma using xenograft enrichment Cancer Res 55 1995 4670 4675
42. Hemminki A. Tomlinson I. Markie D. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis Nat Genet 15 1997 87 90
43. Hruban R.H. van Mansfeld A.D.M. Offerhaus G.J.A. K -ras oncogene activation in adenocarcinoma of the human pancreas: A study of 82 carcinomas using a combination of mutant-enriched polymerase chain reaction analysis and allele-specific oligonucleotide hybridization Am J Pathol 143 1993 545 554
44. Hruban RH, Yeo CJ, Kern SE: Screening for pancreatic cancer. In Kramer B, Provok P, Gohagan J (eds): Screening Theory and Practice. New York, Marcel Dekker, in press
45. Hruban R.H. Yeo C.J. Kern S.E. Pancreatic cancer Scriver C. Beaudet A. Sly D. Molecular and Mendelian Basis of Inherited Disease 1997 McGraw Hill New York chapter 177, CD-ROM version
46. Huang L. Goodrow T.L. Zhang S.Y. Deletion and mutation analyses of the pi 6/MTS-1 tumor suppressor gene in human ductal pancreatic cancer reveals a higher frequency of abnormalities in tumor-derived cell lines than in primary ductal adenocarcinomas Cancer Res 56 1996 1137 1141
47. Huang L. Lang D. Geradts J. Molecular and immunochemical analyses of RBI and cyclin D1 in human ductal pancreatic carcinomas and cell lines Mol Carcinog 15 1996 85 95
48. Iguchi H. Sugano K. Fukayama N. Analysis of Ki-ras codon 12 mutations in the duodenal juice of patients with pancreatic cancer Gastroenterology 110 1996 221 226
49. Johansson B. Bardi G. Heim S. Nonrandom chromosomal rearrangements in pancreatic carcinomas Cancer 69 1992 1674 1681
50. Kamb A. Gruis N.A. Weaver-Feldhaus J. A cell cycle regulator potentially involved in genesis of many tumor types Science 264 1994 436 440
51. Katkhouda N. Mouiel J. Pancreatic cancer in mother and daughter Lancet 2 1986 747
52. Kattwinkel J. Lapey A. di Sant’Agnese P.A. Hereditary pancreatitis: Three new kindreds and a critical review of the literature Pediatrics 51 1973 55 68
53. Kern S.E. Kinzler K.W. Bruskin A. Identification of p53 as a sequence-specific DNA-binding protein Science 252 1991 1708 1711
54. Kinzler K.W. Vogenstein B. Lessons from hereditary colorectal cancer Cell 87 1996 159 170
55. Knudson A.G. Hereditary cancer: Two hits revisited J Cancer Res Clin Oncol 1 122 1996 135 140
56. Ko S.C. Gotoh A. Thalmann G.N. Molecular therapy with recombinant p53 adenovirus in an androgen-independent, metastatic human prostate cancer model Hum Gene Ther 7 1996 1683 1691
57. Kondo H. Sugano K. Fukayama N. Detection of point mutations in the K-ras oncogene at codon 12 in pure pancreatic juice for diagnosis of pancreatic carcinoma Cancer 73 1994 1589 1594
58. Krainer M. Silva-Arrieta S. FitzGerald M.G. Differential contributions of BRCA1 and BRCA2 to early onset breast cancer N Engl J Med 336 1997 1416 1421
59. Lowenfels A.B. Maisonneuve P. DiMagno E.P. Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group J Natl Cancer Inst 89 1997 442 446
60. Lumadue J.A. Griffin C.A. Osman M. Familial pancreatic cancer and the genetics of pancreatic cancer Surg Clin North Am 75 1995 845 855
61. Lundin J. Nordling S. von Boguslawsky K. Prognostic value of immunohisto-chemical expression of p53 in patients with pancreatic cancer Oncology 53 1996 104 111
62. Lynch H.T. Genetics and pancreatic cancer Arch Surg 129 1994 266 268
63. Lynch H.T. Fitzsimmons M.L. Smyrk T.C. Familial pancreatic cancer: Clinicopatho- logic study of 18 nuclear families Am J Gastroenterol 85 1990 54 60
64. Lynch H.T. Fusaro L. Lynch J.F. Familial pancreatic cancer: A family study Pancreas 7 1992 511 515
65. Lynch H.T. Fusaro R.M. Pancreatic cancer and the familial atypical multiple mole melanoma (FAMMM) syndrome Pancreas 6 1991 127 131
66. Lynch H.T. Krush A.J. Heredity and adenocarcinoma of the colon Gastroenterology 53 1967 517 527
67. Lynch H.T. Smyrk T. Kern S.E. Familial pancreatic cancer: A review Semin Oncol 23 1996 251 275
68. Lynch H.T. Smyrk T.C. Watson P. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated review Gastroenterology 104 1993 1535 1549
69. Lynch H.T. Voorhees G.J. Lanspa S.J. Pancreatic carcinoma and hereditary nonpolyposis colorectal cancer: A family study Br J Cancer 52 1985 271 273
70. Lynch H.T. Smyrk T. Kern S.E. Familial pancreas cancer: A review Semin Oncol 23 1996 251 275
71. Lynch H. Fusaro L. Smyrk T. Medical genetic study of eight pancreatic cancerprone families Cancer Invest 13 1995 141 149
72. Lynch H. Schuelke G. Kimberling W. Hereditary nonpolyposis colorectal cancer (Lynch Syndromes I and II) Cancer 56 1985 939 951
73. MacDermott R. Kramer P. Adencarcinoma of the pancreas in four siblings Gastroenterology 65 1973 137 139
74. Malkin D. Li F.P. Strong L.C. Germline p53 mutations in a familial syndrome of breast cancer, sarcoma, and other neoplasms Science 250 1990 1233 1238
75. Mariyama M. Kishi K. Nakamura K. Frequency and types of point mutation at the 12th codon of the c-Ki-ras gene found in pancreatic cancers from Japanese patients Jpn J Cancer Res 80 1989 622 626
76. Merlo A. Herman J.G. Mao L. 5’ CpG island methylation is associated with transcriptional silencing of the tumor suppressor pl6/CDKN2/MTSl in human cancers Nature Medicine 1 1995 686 692
77. Morsberger L.A. Griffin C.A. Jaffee E.M. Analysis of pancreatic carcinoma cell lines by comparative genomic hybridization [abstract] Mod Pathol 10 1997 855
78. Moskaluk C.A. Hruban R.H. Kern S.E. pi 6 and K -ras gene mutations in the intraductal precursors of human pancreatic adenocarcinoma Cancer Res 57 1997 2140 2143
79. Moskaluk C.A. Hruban R.H. Lietman A. Novel germline p16 (INK4a) mutation in familial pancreatic carcinoma Hum Mutat 1997 in press
80. Motojima K. Urano T. Nagata Y. Detection of point mutations in the Kirsten -ras oncogene provides evidence for the multicentricity of pancreatic carcinoma Ann Surg 217 1993 138 143
81. Nagata Y. Abe M. Motoshima K. Frequent glycine-to-aspartic acid mutations at codon 12 of c-Ki-ras gene in human pancreatic cancer in Japanese Jpn J Cancer Res 81 1990 135 140
82. Naumann M. Savitskaia N. Eilert C. Frequent codeletion of pl6/MTSl and pl5/MTS2 and genetic alterations in pl6/MTSl in pancreatic tumors Gastroenterology 110 1996 1215 1224
83. Niehrs C. Mad connection to the nucleus Nature 381 1996 561 562
84. Pellegata N.S. Sessa F. Renault B. K -ras and p53 gene mutations in pancreatic cancer: Ductal and nonductal tumors progress through different genetic lesions Cancer Res 54 1994 1556 1560
85. Phelan C.M. Lancaster J.M. Tonin P. Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families Nat Genet 13 1996 120 122
86. Redston M.S. Caldas C. Seymour A.B. p53 mutations in pancreatic carcinoma and evidence of common involvement of homocopolymer tracts in DNA microdeletions Cancer Res 54 1994 3025 3033
87. Reed A.L. Califano J. Cairns P. High frequency of pl6 CDKN2/MTS-1/INK4A inactivation in head and neck squamous cell carcinoma Cancer Res 56 1996 3630 3633
88. Reimer R. Fraumeni J. Ozols R. Pancreatic cancer in father and son Lancet 1977 911 912
89. Riggins G.J. Thiagalingam S. Rozenblum E. Mad-related genes in the human Nat Genet 13 1996 347 349
90. Riley D.J. Lee E.Y.H.P. Lee W.H. The retinoblastoma protein: More than a tumor suppressor Annu Rev Cell Biol 10 1994 1 29
91. Rozenblum E. Schutte M. Goggins M. Tumor-suppressive pathways in pancreatic carcinoma Cancer Res 57 1997 1731 1734
92. Savitsky K. Bar-Shira A. Gilad S. A single ataxia telangiectasia gene with a product similar to PI-3 kinase Science 268 1995 1749 1753
93. Scarpa A. Capelli P. Mukai K. Pancreatic adenocarcinomas frequently show p53 gene mutations Am J Pathol 142 1993 1534 1543
94. Schutte M. da Costa L.T. Hahn S.A. Identification by representational difference analysis of a homozygous deletion in pancreatic carcinoma that lies within the BRCA2 region Proc Natl Acad Sci USA 92 1995 5950 5954
95. Schutte M. Hruban R.H. Geradts J. Aborgation of the Rb/pl6 tumor-suppressive pathway in virtually all pancreatic carcinomas Cancer Res 457 1997 3126 3130
96. Schutte M. Hruban R.H. Hedrick L. DPC4 gene in various tumor types Cancer Res 56 1996 2527 2530
97. 1 Cancer Res 55 1995 4570 4574
98. Seymour A.B. Hruban R.H. Redston M. Allelotype of pancreatic adenocarcinoma Cancer Res 54 1994 2761 2764
99. Sidransky D. Clinical implications of the p53 gene Annu Rev Med 47 1996 285 301
100. Slattery M.L. Mori M. Gao R. Impact of family history of colon cancer on development of multiple primaries after diagnosis of colon cancer Dis Colon Rectum 38 1995 1053 1058
101. Smit V.T.H.B.M. Boot A.J.M. Smits A.M.M. K-ras codon 12 mutations occur very frequently in pancreatic adenocarcinomas Nucleic Acids Res 16 1988 7773 7782
102. Solinas-Toldo S. Wallrapp C. Muller-Pillasch F. Mapping of chromosomal imbalances in pancreatic carcinoma by comparative genomic hybridization Cancer Res 56 1996 3803 3807
103. Struewing J.P. Hartge P. Wacholder S. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi jews N Engl J Med 336 1997 1401 1408
104. Sugano K. Nakashima Y. Yamaguchi K. Sensitive detection of loss of heterozygosity in the TP53 gene in pancreatic adenocarcinoma by fluorescence-based single strand conformation polymorphism analysis using blunt end DNA fragments Genes Chromosom Cancer 15 1996 157 164
105. Suzuki H. Yoshida S. Ichikawa Y. Ki -ras mutations in pancreatic secretions and aspirates from two patients without pancreatic cancer J Natl Cancer Inst 86 1994 1547 1549
106. Tada M. Omata M. Kawai S. Detection of ras gene mutations in pancreatic juice and peripheral blood of patients with pancreatic adenocarcinoma Cancer Res 53 1993 2472 2474
107. Tada M. Yokosuka O. Omata M. Analysis of ras gene mutations in biliary and pancreatic tumors by polymerase chain reaction and direct sequencing Cancer 66 1990 930 935
108. Tavtigian S.V. Simard J. Rommens J. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds Nat Genet 12 1996 333 337
109. Thiagalingam S. Lengauer C. Leach F.S. Evaluation of candidate tumor suppressor genes on chromosome 18 in colorectal cancers Nat Genet 13 1996 343 346
110. Thorlacius S. Olafsdottir G. Tryggvadottir L. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes Nat Genet 13 1996 117 119
111. Tulinius H. Olafsdottir G.H. Sigvaldason H. Neoplastic diseases in families of breast cancer patients J Med Genet 31 1994 618 621
112. Uehara H. Nakaizumi A. Baba M. Diagnosis of pancreatic cancer by K -ras point mutation and cytology of pancreatic juice Am J Gastroenterol 91 1996 1616 1621
113. Watson P. Lynch H.T. Extracolonic cancer in hereditary nonpolyposis colorectal cancer Cancer 71 1993 677 685
114. Weyrer K. Feichtinger H. Haun M. p53, Ki-ras , and DNA ploidy in human pancreatic ductal adenocarcinomas Lab Invest 74 1996 279 289
115. Whelan A.J. Bartsch D. Goodfellow P.J. Brief report: A familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor-suppressor gene N Engl J Med 333 1995 975 977
116. Whitcomb D. Preston R. Aston C. A gene for hereditary pancreatitis maps to chromosome 7q35 Gastroenterology 110 1996 1975 1980
117. Wilentz R.E. Chung C.H. Polak M.M. Detection of K -ras mutations in duodenal fluid-derived DNA from patients with pancreatic cancer [abstract] Mod Pathol 9 809 1996 139A
118. Wooster R. Bignell G. Lancaster J. Identification of the breast cancer susceptibility gene BRCA2. Nature 378 1995 763 789
119. 1 Cancer Res 53 1993 953 956
120. Yin Y. Tainsky M.A. Bischoff F.Z. Wild-type p53 restores cell cycle control and inhibits gene amplification in cells with mutant p53 alleles Cell 70 1992 937 948
121. Yokoyama M. Yamanaka Y. Friess H. p53 expression in human pancreatic cancer correlates with enhanced biological aggressiveness Anticancer Res 14 1994 2477 2484