Use of molecular methods in the early diagnosis of familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer

Annals of the Academy of Medicine Singapore

Volumn 25, Issue 1, 1996, Pages 64-70

  Khine, K ^a   Smith, D R ^a   Goh, H S ^b  

^a SINGAPORE GENERAL HOSPITAL   (Singapore)

^b Gleneagles Medical Centre

Author keywords

Autosomal dominant; Microsatellite instability; Mismatch repair gene; Mutation

Indexed keywords

COLON POLYPOSIS; COLORECTAL TUMOR; GENETIC MARKER; GENETIC SCREENING; GENETICS; HUMAN; REVIEW;

ADENOMATOUS POLYPOSIS COLI; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; GENETIC MARKERS; GENETIC SCREENING; HUMANS;

EID: 0029691805     PISSN: 03044602     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (88)

1. Thomas G. Advances in the genetics and molecular biology of colorectal tumors. Curr Opin Oncol 1994, 6.406-12
2. Kinzler K W, Vogelstein B The colorectal cancer gene hunt: Current findings. Hosp Pract 1992; 127:51-8.
3. Vasen H F A, Mecklin J-P, Meera Khan P, Lynch H T. The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 1991; 34 424-5.
4. Mecklin J P. Frequency of hereditary colorectal carcinoma. Gastroenterology 1987; 93.1021-5.
5. Lee H P, Chia K S, Shanmugaratnam K Cancer incidence in Singapore 1983-1987. Singapore: Singapore Cancer Registry; 1992 Report Nr 3 15-6, 88-91
6. Haller D G. Colorectal cancer: a model of discovery in common human cancers. Curr Opin Oncol 1994; 6:403-5.
7. Hamilton S R. Molecular genetic alterations as potential prognostic indicators in colorectal carcinoma. Cancer 1992; 69:1589-91.
8. Lynch H T, Smyrk T C, Watson P, Lanspa S J, Lynch J F, Lynch P M, et al. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated review. Gastroenterology 1993; 104:1535-49
9. Reed T E, Neale J V. A genetic study of multiple polyposis of colon. Am J Hum Genet 1955; 7.236-63
10. Büllow S. Familial polyposis coli. Dan Med Bull 1987; 34:1-15.
11. Bishop D T, Thomas H J W The genetics of colorectal cancer. Cancer Serv 1990; 9:585-604.
12. Gardner E J, Richards R C. Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet 1953; 5.139-48.
13. Bodmer W F, Bailey C J, Bodmer J, Bussey H J R, Ellis A, Gorman P, et al Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 1987; 328:614-6.
14. Leppert M, Dobbs M, Scambler P, O'Connell P, Nakamura Y, Stauffer D, et al. The gene for familial polyposis coli maps to the long arm of chromosome 5. Science 1987; 238:1411-3.
15. Groden J, Thliveris A, Samowitz W, Carison M, Gelbert L, Albertsen H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66:589-600.
16. Joslyn G, Carison M, Thliveris A, Albertsen H, Gelbert L, Samowitz W, et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 1991, 66:601-13.
17. Kinzler K W, Nilbert M C, Su L-K, Vogelstein B, Bryan T M, Levy D B, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991; 253:661-5
18. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, et al. Mutations of chromosome5q21 genes in FAP and colorectal cancer patients. Science 1991; 253:665-9.
19. Miyoshi Y, Ando H, Nagase H, Nishisho I, Honi A, Miki Y, et al. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci USA 1992; 89:4452-6.
20. Rubinfeld B, Souza B, Albert I, Muller O, Chamberlain S H, Masiarz F R, et al. Association of the APC gene product with β catenin. Science 1993; 262:1731-3.
21. Su L-K, Vogelstein B, Kinzler K W. Association of the APC tumor suppressor protein with catenins Science 1993; 262:1734-7.
22. Tanaka K, Oshimura M, Kikuchi R, Seki M, Hayashi T, Miyaki M Suppression of tumorigenicity in human colon carcinoma cells by introduction of normal chromosome 5 or 18 Nature 1991, 349 340-2.
23. Ichii S, Horii A, Nakatsuru S, Furuyama J, Utsunomiya J, Nakamura Y. Inactivation of both APC alleles in an early stage of colon adenomas in a patient with familial adenomatous polyposis (FAP). Hum Mol Genet 1992; 1.387-90.
24. Miyaki M, Konoshi M, Kikuchi-Yanoshita R, Enomoto M, Tanaka K, Takahashi H, et al. Coexistence of somatic and germ-line mutations of APC gene in desmoid tumors from patients with familial adenomatous polyposis. Cancer Res 1993, 53:5079-82
25. Tops C M J, Wijnen J T H, Griffioen G, Leeuwen I S J V, Vasen H F A, den Hartog Jager F C A, et al Presymptomatic diagnosis of familial adenomatous polyposis by bridging DNA markers. Lancet 1989; ii:1361-3.
26. Dunlop M G, Wyllie A H, Steel C M, Piris J, Evans H J. Linked DNA markers for presymptomatic diagnosis of familial adenomatous polyposis. Lancet 1991; 337:313-6.
27. Cachon-Gonzalez M B, Delhanty J D A, Burn J, Tsioupra K, Davis M B, Attwood J, et al. Linkage analysis in adenomatous polyposis coli: the use of four closely linked DNA probes in 20 UK families. J Med Genet 1991; 28:681-5.
28. MacDonald F, Mortan D G, Rindl P M, Haydon J, Cullen R, Gibson J, et al. Predictive diagnosis of familial adenomatous polyposis with linked DNA markers: population based study. BMJ 1992; 304:869-72.
29. Bapat B V, Parker J A, Berker T, Cohen Z, McLeod R S, Ray P N, et al. Combined use of molecular and biomarkers for presymptomatic carrier risk in familial adenomatous polyposis: Implications for screening guidelines. Dis Colon Rectum 1994; 37:165-71.
30. Eckert W, Jung C, Wolff G Presymptomaric diagnosis in families with adenomatous polyposis using highly polymorphic dinucleotide CA repeat markers flanking the APC gene J Med Genet 1994; 31:442-7.
31. van Leeuwen C, Tops C, Breukel C, van der Klift H, Deeven L, Fodde R, et al CA repeat polymorphism at the D5S299 locus linked to adenomatous polyposis coli (APC). Nucleic Acids Res 1991; 19:5805.
32. van Leeuwen C, Tops C, Breukel C, van der Klift H, Fodde R, Khan P M CA repeat polymorphism within the MCC (mutated in colorectal cancer) gene. Nucleic Acids Res 1991; 19:5805.
33. Kraus C, Ballhausen W G Two intragenic polymorphisms of the APC-gene detected by PCR and enzymatic digestion. Hum Genet 1992; 88:705-6.
34. Bulow S Clinical features in familial polyposis coli: results of the Danish polyposis register. Dis Colon Rectum 1986; 29.102-7.
35. Cottrell S, Bicknell D, Kaklamanis L, Bodmer W F. Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas Lancet 1992; 340:626-30.
36. Nagase H, Miyoshi Y, Horn A, Aoki T, Petersen G M, Vogelstein B, et al. Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. Hum Mutat 1992; 1 467-73.
37. Groden J, Gelbert L, Thliveris A, Nelson L, Robertson M, Joslyn G, et al. Mutational analysis of patients with adenomatous polyposis: Identical inactivating mutations in unrelated individuals. Am J Hum Genet 1993; 52:263-72.
38. Prosser J, Condie A, Wright M, Horn J M, Fantes J A, Wyllie A, et al. APC mutation analysis by chemical cleavage of mismatch and protein truncation assay in familial adenomatous polyposis Br J Cancer 1994; 70:841-6.
39. Caspari R, Friedl W, Mandl M, Möslem G, Kadmon M, Knapp M, et al. Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet 1994; 343:629-32.
40. Powell S M, Petersen G M, Krush A J, Booker S, Jen J, Giardiello F M, et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993; 329:1982-7.
41. Smith K J, Johnson K A, Bryan T M, Hill D E, Markowitz S, Willson J K V, et al. The APC gene product in normal and tumor cells. Proc Natl Acad Sci USA 1993; 90:2846-50.
42. Culotta E, Koshland D E Jr. DNA repair works its way to the top. Science 1994; 266:1926-9.
43. Lynch H T, Kimberling W, Albano W A, Lynch J F, Biscone K, Schuelke G S, et al. Hereditary non-polyposis colorectal cancer (Lynch syndromes I and II) Cancer 1985, 56.934-8.
44. Strand M, Prolla T A, Liskay R M, Petes T D. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 1993; 365:274-6.
45. Peltomäki P, Aaltonen L A, Sistonen P, Pylkkanen L, Mecklin J-P, Jarvinen H, et al. Genetic mapping of a locus predisposing to human colorectal cancer. Science 1993; 260:810-2.
46. Fishel R, Lescoe M K, Rao M R S, Copeland N G, Jenkins N A, Garber J, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993; 75:1027-38.
47. Leach F S, Nicolaides N C, Papadopoulos N, Liu B, Jen J, Parsons R, et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993; 75:1215-25.
48. Lindblom A, Tannergård P, Werelius B, Nordenskjöld M. Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nature Genet 1993; 5:279-82
49. Bronner C E, Baker S M, Morrison P T, Warren G, Smith L G, Lescoe M K, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary nonpolyposis colon cancer Nature 1994; 368:258-61.
50. Papdopoulos N, Nicolaides N C, Wei Y-F, Ruben S M, Carter K C, Rosen C A. Mutation of a mutL homolog in hereditary colon cancer. Science 1994; 263:1625-9.
51. Nicolaides N C, Papadopovdos N, Liu B, Wei Y-F, Carter K C, Ruben S M, et al Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994; 371:75-80.
52. Modrich P. Mechanisms and biological effects of mismatch repair. Annu Rev Genet 1991, 25:229-53.
53. Liu B, Parsons R E, Hamilton S R, Petersen G M, Lynch H T, Watson P, et al. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res 1994; 54:4590-4.
54. Service R F. Stalking the start of colon cancer. Science 1994; 263:1559-60.
55. Markowitz S, Wang J, Myeroff L, Parsons R, Sun L-Z, Lutterbaugh J. Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability. Science 1995, 268.1336-8.
56. Aaltonen L A, Peltomaki P, Leach F S, Sistonen P, Pylkkanen L, Mecklin J-P, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993; 260:812-6.
57. Liu B, Nicolaides N C, Markowitz S, Willson J K V, Parsons R E, Jen J, et al. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nature Genet 1995; 9:48-55.
58. Kim H, Jen J, Vogelstein B, Hamilton S R. Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences. Am J Pathol 1994; 145:148-56
59. Aaltonen L A, Peltomaki P, Mecklin J-P, Jàrvinen H, Jass J R, Green J S, et al Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients Cancer Res 1994; 54:1645-8.
60. Inov Y M, Peinado A, Malkhosyan S, Shibata D, Perucho M Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonie carcinogenesis. Nature 1993; 363:558-61
61. Thibodeau S N, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1993; 260:816-9
62. Burks R T, Kessis T D, Cho K R, Hedrick L Microsatellite instability in endometrial carcinoma Oncogene 1994; 9:1163-6.
63. Merio A, Mabry M, Gabrielson E, Vollmer R, Baylin S B, Sidransky D. Frequent microsatellite instability in primary small cell lung cancer. Cancer Res 1994; 54 2098-101.
64. Peltomaki P, Lothe R A, Aaltonen L A, Pylkkanen L, Nyström-Lahti M, Seruca R, et al. Microsatellite instability is associated with tumors that characterize the hereditary nonpolyposis colorectal carcinoma syndrome. Cancer Res 1993; 53:5853-5.
65. Risinger J I, Berchuck A, Kohler M F, Watson P, Lynch H T, Boyd J. Genetic instability of microsatellites in endometrial carcinoma. Cancer Res 1993; 53:5100-3.
66. Han H-J, Yanagisawa A, Kato Y, Park J-G, Nakamura Y Genetic instability in pancreatic cancer and poorly differentiated type of gastric cancer. Cancer Res 1993; 53:5087-9
67. Rhyu M-G, Park W-S, Meltzer S J. Microsatellite instability occurs frequently in human gastric carcinoma Oncogene 1994; 9:29-32
68. Meltzer S J, Yin J, Manin B, Rhyu M-G, Cottrell J, Hudson E, et al. Microsatellite instability occurs frequently and in both diploid and aneuploid cell populations of Barrett's-associated esophageal adenocarcinomas Cancer Res 1994; 54:3379-82.
69. Ogasawara S, Maesawa C, Tamura G, Satodate R Frequent microsatellite alterations on chromosome 3p in esophageal squamous cell carcinoma. Cancer Res 1995; 55:891-4.
70. Dams E, Van de Keift E L Z, Martin J-J, Verlooy J, Willems P. Instability of microsatellites in human gliomas. Cancer Res 1995; 55:1547-9.
71. Weber J L, May P E. Abundant class of human DNA polymorphism which can be typed using the polymerase chain reaction. Am J Hum Genet 1989; 44:388-96
72. Litt M, Luty J A. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am J Hum Genet 1989; 44:397-401.
73. Heame C M, Ghosh S, Tood J A. Microsatellites for the linkage analysis of genetic traits. Trends Genet 1992; 8:288-94.
74. Eshleman J R, Markowitz S D Microsatellite instability in inherited and sporadic neoplasms. Curr Opin Oncol 1995; 7:83-9.
75. Loeb L A. Microsatellite instability: Marker of a mutator phenotype in cancer. Cancer Res 1994, 54:5059-63.
76. Koi M, Umar A, Chauhan D P, Cherian S P, Carethers J M, Kunkel T A, et al. Human chromosome 3 corrects mismatch repair deficiency and microsatellite instability and reduces N-Methyl-N′-nitro-N-nitrosoguanidine tolerance in colon tumor cells with homozygous hMLHI mutation. Cancer Res 1994; 54:4308-12.
77. Parsons R, Li G-M, Longely M J, Fang W-H, Papadopoulos N, Jen J, et al. Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell 1993; 75:1227-36.
78. Eshleman J R, Lang E Z, Bowerfind G K, Parsons R, Vogelstein B, Willson J K, et al. Increased mutation rate at the hprt locus accompanies microsatellite instability in colon cancer. Oncogene 1995; 10:33-7.
79. Peltomäki P T. Genetic basis of hereditary nonpolyposis colorectal carcinoma (HNPCC). Ann Med 1994; 26:215-9.
80. Lynch J, Lynch H T. Genetic counseling and HNPCC. Anticancer Res 1994, 14:1651-6
81. Percesepe A, Anti M, Marra G, Roncucci L, Pahor M, Coco C, et al. Role of clinical criteria in the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC): Results of a multivariate analysis. Int J Cancer 1994; 58:799-802
82. Ponz de Leon M. Prevalence of hereditary nonpolyposis colorectal carcinoma (HNPCC). Ann Med 1994; 26:209-14.
83. Lynch P M. Surveillance and treatment of hereditary nonpolyposis colorectal cancer. Anticancer Res 1994; 14:1641-6.
84. Mecklin J P, Ponz de Leon M. Epidemiology of HNPCC. Anticancer Res 1994; 14.1625-30.
85. Green R C, Narod S A, Morasse J, Young T-L, Cox J, Fitzgerald G W N, et al. Hereditary nonpolyposis colon cancer: Analysis of linkage to 2p1-16 places the COCA1locus telomeric to D2S123 and reveals genetic heterogeneity m seven Canadian families. Am J Hum Genet 1994; 54:1067-77.
86. Young J, Leggett B, Gustafson C, Ward M, Searle J, Thomas L, et al. Genomic instability occurs in colorectal carcinomas but not in adenomas. Hum Mutat 1993; 2:351-4.
87. Mao L, Lee D J, Tockman M S, Erozan Y S, Askin F, Sidransky D. Microsatellite alterations as clonal markers for the detection of human cancer. Proc Natl Acad Sci USA 1994; 91:9871-5.
88. Khine K, Smith D R, Law H-Y, Goh H-S. The presymptomatic molecular diagnosis of familial adenomatous polyposis in Singapore. Singapore Med J 1996. (In press)