Genetic susceptibility to non-polyposis colorectal cancer

Journal of Medical Genetics

Volumn 36, Issue 11, 1999, Pages 801-818

  Lynch, Henry T ^a   De la Chapelle, Albert ^b  

^a CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

Colorectal cancer; Genetic susceptibility; Hereditary non polyposis colorectal cancer

Indexed keywords

PROTEIN BAX; PROTEIN P53; TRANSFORMING GROWTH FACTOR BETA RECEPTOR;

ANEUPLOIDY; ANIMAL MODEL; BASE MISPAIRING; CLINICAL FEATURE; COLORECTAL CANCER; DIFFERENTIAL DIAGNOSIS; DIPLOIDY; DNA REPAIR; FAMILIAL CANCER; FAMILY HISTORY; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HUMAN; MICROSATELLITE INSTABILITY; MOLECULAR GENETICS; MOUSE; NONHUMAN; ONCOGENE K RAS; PATHOLOGY; PEUTZ JEGHERS SYNDROME; PHENOTYPE; PIGMENTATION; POLYPOSIS; PRIORITY JOURNAL; PROPHYLAXIS; PUBLIC HEALTH; REVIEW;

COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA, SATELLITE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; PLOIDIES;

ANIMALIA;

EID: 0032730774     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (164)

1. Landis SH, Murray T, Bolden S, Wingo PA. Cancer statistics, 1999. CA Cancer J Clin 1999;49:8-31.
2. Lynch HT, Follett KL, Lynch PM, Albano WA, Mailliard JL, Pierson RL. Family history in an oncology clinic, implications for cancer genetics. JAMA. 1979;242:1268-72.
3. David KL, Steiner-Grossman P. The potential use of tumor registry data in the recognition and prevention of hereditary and familial cancer N Y State J Med 1991;91:150-2.
4. Smyrk TC, Lynch HT Microsatellite instability: impact on cancer progression in proximal and distal colorectal cancers. Eur J Cancer 1999;35:171-2.
5. Lynch HT, Boman BM, Lanspa SJ, Smyrk T, Lynch JF. Heritage of colonic polyps. In: Herrera L, ed. Familial adenomatous polyposis. New York: Alan R Liss, 1990:9-15.
6. Lynch HT, Smyrk T, Lanspa S, Marcus J, Kriegler M, Appelman HD. Flat adenomas in a colon cancer-prone kindred. J Natl Cancer Inst 1988;80:278-81.
7. Lynch HT, Smyrk T, McGinn T, et al. Attenuated familial adenomatous polyposis (AFAP): a phenotypically and genotypically distinctive variant of FAR Cancer 1995;76:2427-33.
8. Spirio L, Olschwang S, Groden J, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993;75:951-7.
9. Beck NE, Tomlinson IP, Homfray TF, Frayling IM, Hodgson SV, Bodmer WE Frequency of germline hereditary nonpolyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas. Gut 1997;41:235-8.
10. Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ. Hereditary factors in cancer: study of two large midwestern kindreds. Arch Intern Med 1966;117:206-12.
11. Warthin AS. Heredity with reference to carcinoma. Arch Intern Med 1913;12:546-55.
12. Lynch HT, Krush AJ. Cancer family "G" revisited: 1895-1970. Cancer 1971;27:1505-11.
13. Watson P, Lynch HT. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 1993;71:677-85.
14. Risinger JI, Barrett JC, Watson P, Lynch HT, Boyd J. Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal cancer syndrome. Cancer 1996;77:1836-43.
15. Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome): an updated review. Cancer 1996;78:1149-67.
16. de la Chapelle A, Peltomäki R Genetics of hereditary colon cancer Annu Rev Genet 1995;29:329-48.
17. Peltomäki P, de la Chapelle A. Mutations predisposing to hereditary nonpolyposis colorectal cancer. In: Vande Woude GF, Klein G, eds. Advances in cancer research. San Diego, California: Academic Press, 1997:93-119.
18. Kinzler KW, Vogelstein B. Lessons from hereditary colon cancer. Cell 1996;87:159-70.
19. Kinzler KW, Vogelstein B. Landscaping the cancer terrain. Science 1998;280:1036-7.
20. Kinzler KW, Vogelstein B. Cancer-susceptibility genes. Gatekeepers and caretakers. Nature 1997;386:761-3.
21. Kolodner RD, Hall NR, Lipford J, et al. Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. Genomics 1994;24:516-26.
22. Modrich P. Mechanisms and biological effects of mismatch repair. Annu Rev Genet 1991;25:229-53.
23. Peltomaki P. DNA mismatch repair gene mutations in human cancer. Environ Health Perspect 1997;105(suppl 4):775-80.
24. Shimodaira H, Filosi N, Shibata H, et al. Functional analysis of human MLH1 mutations in Saccaromyces cerevisiae. Nat Genet 1997;19:384-9.
25. de la Chapelle A, Wright FA, Linkage disequilibrium mapping in isolated populations: the example of Finland revisited. Proc Natl Acad Sci USA 1998;95:12416-23.
26. Thorlacius S, Struewing JP, Hartge P, et al. Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet 1999;352:1325-6.
27. Goodman RM, Motulsky AG, eds. Genetic diseases among Ashkenazi Jews. New York: Raven Press, 1979.
28. McKusick VA, Hostetler JA, Egeland JA. Genetic studies of the Amish: background and potentialities. Bull Johns Hopkins Hosp 1964;115:203-22.
29. Nyström-Lahti M, Peltomäki P, Aaltonen LA, de la Chapelle A. Genetic and genealogic study of 33 Finnish HNPCC kindreds. Am J Hum Genet 1994; 55(suppl):A356.
30. Risch N, de Leon D, Ozelius L, et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995;9:152-9.
31. Moisio AL, Sistonen P, Weissenbach J, de la Chapelle A, Peltomaki P. Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet 1906;59:1243-51.
32. Vasen HFA, Mecklin JP, Meera Khan P, Lynch HT. The International Collaborative Group on Hereditary Non-polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424-5.
33. Moore J, Cowled P. Hereditary non-polyposis colorectal cancer syndrome. Aust NZ J Med 1999;69:6-13.
34. Mecklin JP, Järvinen HJ, Hakkiluoto A, et al. Frequency of hereditary nonpolyposis colorectal cancer: a prospective multicenter study in Finland. Dis Colon Rectum 1995;38:588-93.
35. Ponz de Leon M, Sassatelli R, Sacchetti C, Zanghieri G, Scalmati A, Roncucci L. Familial aggregation of tumors in the 3-year experience of a population-based colorectal cancer registry. Cancer Res 1989;49:4344-8.
36. Ponz de Leon M, Sassatelli R, Benatti P, Roncucci L. Identification of hereditary nonpolyposis colorectal cancer in the general population: the 6-year experience of a population-based registry. Cancer 1993;71:3493-501.
37. Cannon-Albright LA, Skolnick MH, Bishop DT, Lee RG, Burt RW. Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. N Engl J Med 1988;319:533-7.
38. Houlston RS, Collins A, Slack J, Morton NE. Dominant genes for colorectal cancer are not rare. Ann Hum Genet 1992;56:99-103.
39. Aaltonen LA, Sankila R, Mecklin JP, et al. A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden. Cancer Detect Prev 1994;18:57-63.
40. Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda Guidelines. J Natl Cancer Inst 1997;89:1758-62.
41. Aaltonen LA, Peltomaki P, Mecklin JP, et al. Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res 1994;-54:1645-8.
42. Lynch HT, Smyrk TC. Identifying hereditary nonpolyposis colorectal cancer N Engl J Med 1998;338:1537-8.
43. Möslein G, Tester DJ, Lindor NM, et al. Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum Mol Genet 1996;5:1245-52.
44. Wijnen J, Khan PM, Vasen H, et al. Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations- Am J Hum Genet 1997;-61:329-35.
45. Nystrom-Lahti M, Kristo P, Nicolaides NC, et al. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med 1995;1:1203-6.
46. Nyström-Lahti M, Wu Y, Moisio AL, et al. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary nonpolyposis colorectal cancer. Hum Mol Genet 1996;5:763-9.
47. Liu B, Nicolaides NC,Markowitz S, et al. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet 1995;9:48-55.
48. Liu B,Parsons R, Papadopoulos N, et al. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 1996;2:169-74.
49. Wu Y, Nyström-Lahti M, Osinga J, et al. MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. Genes Chrom Cancer 1997;18:269-78.
50. Papadopoulos N, Nicolaides NC, Liu B, et al. Mutations of GTBP in genetically unstable cells. Science 1995;268:1915-17.
51. Akiyama Y, Sato H, Yamada T, et al. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 1997;57:3920-3.
52. Miyaki M, Konishi M, Tanaka K, et al. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 1997;17:271-2.
53. Hofstra RMW, Wu Y, Berends MJW, et al. Frequent involvement of MSH6 germline mutations in HNPCC-suspected families with low microsatellite instability tumors. Am J Hum Genet 1998;63(suppl):A21.
54. Lu SL, Kawabata M, Imamura T, et al. HNPCC associated with germline mutation in the TGF-β type II receptor gene. Nat Genet 1998;19:17-18.
55. Percesepe A, Kristo P, Aaltonen LA, Ponz de Leon M, de la Chapelle A, Peltomaki P. Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability. Oncogene 1998;17:157-63.
56. Tomlinson I, Rahman N, Frayling I, et al. Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on 15q14-q22. Gastroenterology 1999;116:789-95.
57. Aaltonen LA, Salovaara R, Kristo P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998;338:1481-7.
58. Fujiwara T, Stolker JM, Watanabe T, et al. Accumulated clonal genetic alterations in familial and sporadic colorectal carcinomas with widespread instability in microsatellite sequences. Am J Pathol 1998;153:1063-78.
59. Wijnen J, van der Klift H, Vasen H, et al. MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 1998;-20:326-8.
60. Landis SH, Murray T, Bolden S, Wingo PA. Cancer statistics, 1998. CA Cancer J Clin 1998;48:6-29.
61. Aarnio M, Sankila R, Pukkala E, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999;81:214-18.
62. Dunlop MG, Farrington SM, Carothers AD, et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 1997;6:105-10.
63. Mecklin JP, Jarvinen HJ. Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer 1991;68:1109-12.
64. Mecklin JP, Jarvinen HJ, Peltokallio P. Cancer family syndrome: genetic analysis of 22 Finnish kindreds. Gastroenterology 1986;30:328-33.
65. Heinimann K, Müller H, Weber W, Scott RJ. Disease expression in Swiss hereditary non-polyposis colorectal cancer (HNPCC) kindreds. Int J Cancer (Pred Oncol) 1997;74:281-5.
66. Vasen HFA, Sanders EACM, Taal BG, et al. The risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC). Int J Cancer 1997;74:551-5.
67. Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot's syndrome. N Engl J Med 1995;332:839-47.
68. Aarnio M, Salovaara R, Aaltonen LA, Mecklin J-P, Järvinen HJ. Features of gastric cancer in hereditary non-polyposis colorectal cancer syndrome. Int J Cancer (Pred Oncol) 1997;74:551-5.
69. Ashley SW, Wells SA, Tumors of the small intestine. Semin Oncol 1988;15:116-28.
70. Aarnio M, Mecklin JP, Aaltonen LA, Nystrom-Lahti M, Jarvinen HJ. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 1995;64:430-3.
71. Vasen HFA, Wijnen JT, Menko FH, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis, Gastroenterology 1996;110:1020-7.
72. Rodriguez-Bigas MA, Vasen HFA, Lynch HT, et al. Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma. Cancer 1998;83:240-4.
73. Fearon ER. Human cancer syndromes: clues to the origin and nature of cancer. Science 1997;278:1043-50.
74. Muir EG, Bell AJ, Barlow KA. Multiple primary carcinomata of the colon, duodenum, and larynx associated with keratoacanthomata of the face. Br J Surg 1966;54:191-5.
75. Torre D. Multiple sebaceous tumors. Arch Dermatol 1968;98:549-51.
76. Cohen PR, Kohn SR, Kurzrock R. Association of sebaceous gland tumors and internal malignancy: the Muir-Torre syndrome. Am J Med 1991;90:606-13.
77. Lynch HT, Lynch PM, Pester J, Fusaro RM. The cancer family syndrome: rare cutaneous phenotypic linkage of Torre's syndrome. Arch Intern Med 1981;141:607-11.
78. Lynch HT, Fusaro RM, Roberts L, Voorhees GJ, Lynch JF. Muir-Torre syndrome in several members of a family with a variant of the cancer family syndrome. Br J Dermatol 1985;113:295-301.
79. Lynch HT, Fusaro RM. Muir-Torre syndrome: heterogeneity, natural history, diagnosis, and management. Prob Gen Surg 1993;10:1-14.
80. Bapat B, Xia L, Madlensky L, et al. The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. Am J Hum Genet 1996;59:736-9.
81. Kruse R, Lamberti C, Wang Y, et al. Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? Hum Genet 1996;98:747-50.
82. Kruse R, Rütten A, Lamberti C, et al. Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. Am J Hum Genet 1998;63:63-70.
83. Lin KM, Shashidharan M, Ternent CA, et al. Colorectal and extracolonic cancer variations in MLH1/MSH2 hereditary nonpolyposis colorectal cancer kindreds and the general population. Dis Colon Rectum 1998;41:428-33.
84. Jäger AC, Bisgaard ML, Myrhoj T, Bernstein I, Rehfeld JF, Nielsen FC. Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression. Am J Hum Genet 1997;61:129-38.
85. Beck NE, Tomlinson IPM, Homfray T, Hodgson SV, Harocopos CJ, Bodmer WF. Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled. Br J Surg 1997;84:233-7.
86. Watson P, Lin K, Rodriguez-Bigas MA, et al. Colorectal carcinoma survival among hereditary nonpolyposis colorectal cancer family members. Cancer 1998;83:259-66.
87. Sankila R, Aaltonen LA, Jarvinen HJ, Mecklin JP. Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroentrology 1996;110:682-7.
88. Hodgson SV, Harocopos C, Gaglia P. Screening results in a family cancer clinic: five years experience. Anticancer Res 1993;13:2581-6.
89. Jass JR, Stewart SM. Evolution of hereditary non-polyposis colorectal cancer. Gut 1992;33:783-6.
90. Jass JR. Colorectal adenoma progression and genetic change: is there a link? Ann Med 1995;27:301-6.
91. Järvinen HJ, Mecklin JP, Sistonen P. Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 1995;108:1405-11.
92. Smyrk TC, Lynch HT, Watson PA, Appelman HD. Histologic features of hereditary nonpolyposis colorectal carcinoma. In: Utsunomiya J, Lynch HT, eds. Hereditary colorectal cancer. Tokyo: Springer-Verlag, 1990:357-62.
93. Jass JR, Smyrk TC, Stewart SM, Lane MR, Lanspa SJ, Lynch HT Pathology of hereditary non-polyposis colorectal cancer. Anticancer Res 1994;14:1631-4.
94. Mecklin JP, Jarvinen HJ. Clinical features of colorectal carcinoma in cancer family syndrome. Dis Colon Rectum 1986;-29:160-4.
95. Gibbs NM. Undifferentiated carcinoma of the large intestine. Histopathology 1977;1:77-84.
96. Jessurun MR, Manivel JC. Cecal, poorly differentiated adenocarcinomas, medullary-type. Mod Pathol 1992;5:43A.
97. Kim H, Jen J, Vogelstein B, Hamilton SR. Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences. Am J Pathol 1994;145:148-56.
98. Thibodeau SN, French AJ, Roche PC, et al. Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res 1996;56:4836-40.
99. Graham DM, Appelman HD. Crohn's-like lymphoid reaction and colorectal carcinoma: a potential histologic prognosticator Mod Pathol 1990;3:332-5.
100. Bird RP. Observation and quantification of aberrant crypts in the murine colon treated with a colon carcinogen: preliminary findings. Cancer Lett 1987;37:147-51.
101. Roncucci L, Stamp D, Medline A, Cullen JB, Bruce WR. Identification and quantification of aberrant crypt foci and microadenomas in the human colon. Hum Pathol 1991;22:287-94.
102. Roncucci L, Modica S, Pedroni M, et al. Aberrant crypt foci in patients with colorectal cancer. Br J Cancer 1998;77:2343-8.
103. Augenlicht LH, Richards C, Corner G, Pretlow TG. Evidence for genomic instability in human colonic aberrant crypt foci. Oncogene 1996;12:1762-7.
104. Heinen CD, Shivapurkar N, Tang Z, Groden J, Alabaster O. Microsatellite instability in aberrant crypt foci from human colons. Cancer Res 1996;56:5339-41.
105. Takayama T, Katsuki S, Takahashi Y, et al. Abberant crypt foci of the colon as precursors of adenoma and cancer. N Engl J Med 1998;339:1277-84.
106. Vasen HFA, van Ballegooijen M, Buskens E, et al. A cost-effectiveness analysis of colorectal screening of hereditary nonpolyposis colorectal carcinoma gene carriers. Cancer 1998;82:1632-7.
107. Syngal S, Weeks JC, Schrag D, Garber JE, Kuntz KM. Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations. Ann Intern Med 1998;129:787-96.
108. Rex DK, Cutler CS, Lemmel GT, et al. Colonoscopic miss rates of adenomas determined by back-to-back colonoscopies. Gastroenterology 1997;112:24-8.
109. Vasen HFA, Nagengast FM, Khan PM. Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome). Lancet 1995;345:1183-4.
110. Church J. Hereditary colon cancers can be tiny: a cautionary case report of the results of colonoscopic surveillance. Am J Gastroenterol 1998;93:2289-90.
111. Lynch HT Is there a role for prophylactic subtotal colectomy among hereditary nonpolyposis colorectal cancer germline mutation carriers? Dis Colon Rectum 1996;39: 109-10.
112. Church JM. Prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer. Ann Med 1996;-28:479-82.
113. Rodriguez-Bigas MA, Vasen HFA, Pekka-Mecklin J, et al. Rectal cancer risk in hereditary nonpolyposis colorectal cancer after abdominal colectomy. Ann Surg 1997;225:202-7.
114. Froggatt NJ, Green J, Brassett C, et al. A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet 1999;36:97-102.
115. Lanspa SJ, Jenkins JX, Cavalieri RJ, Smyrk TC, Watson P, Lynch J. Surveillance in Lynch syndrome: how aggressive? Am J Gastroenterol 1994;89:1978-80.
116. DeCosse JJ. Surgical prophylaxis of familial colon cancer: prevention of death from familial colorectal cancer. J Natl Cancer Inst (Monogr) 1995;17:31-2.
117. Lynch HT, Smyrk TC, Watson P, et al. Genetics, natural history, tumor spectrum, and pathology of hereditary non-polyposis colorectal cancer: an updated review. Gastroenterology 1993;104:1535-49.
118. Lynch HT, Smyrk T, Lynch J. An update of HNPCC (Lynch syndrome). Cancer Genet Cytogenet 1997;93:84-99.
119. Lynch HT, Smyrk T. An update of Lynch syndrome. Curr Opin Oncol 1998;10:349-56.
120. Rüschoff J, Wallinger S, Dietmaier W, et al. Aspirin suppresses the mutator phenotype associated with hereditary nonpolyposis colorectal cancer by genetic selection. Proc Natl Acad Sci USA 1998;95:11301-6.
121. de Wind N, Dekker M, van Rossum A, van der Valk M, te Riele H. Mouse models for hereditary nonpolyposis colorectal cancer. Cancer Res 1998;58:248-55.
122. Baylin SB, Herman JG, Graff JR, Vertino PM, Issa JP. Alterations in DNA methylation: a fundamental aspect of neoplasia. Adv Cancer Res 1998;72:141-96.
123. Jones PA, Laird PW, Cancer epigenetics comes of age. Nat Genet 1999;21:163-7.
124. Hiltunen MO, Alhonen L, Koistinaho J, et al. Hypermethylation of the APC (adenomatous polyposis coli) gene promotor region in human colorectal carcinoma. Int J Cancer 1997;70:644-8.
125. Laird PW, Jackson-Grusby L, Fazeli A, et al. Suppression of intestinal neoplasia by DNA hypomethylation. Cell 1905;81:197-205.
126. Kane MF, Loda M, Gaida GM, et al. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res 1997;57:808-11.
127. Herman JG, Umar A, Polyak K, et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci USA 1998;-95:6870-5.
128. Cunningham JM, Christensen ER, Tester DJ, et al. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res 1998;58:3455-60.
129. Veigl ML, Kasturi L, Olechnowicz J, et al. Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. Proc Natl Acad Sci USA 1998;95:8698-702.
130. Hemminki A, Peltomäki P, Mecklin JP, et al. Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nat Genet 1994;8:405-10.
131. Bubb VJ, Curtis LJ, Cunningham C, et al. Microsatellite instability and the role of hMSH2 in sporadic colorectal cancer. Oncogene 1996;12:2641-9.
132. Lothe RA, Peltomaki P, Meling GI, et al. Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history. Cancer Res 1993;53:5849-52.
133. Senba S, Konishi F, Okamoto T, et al. Clinicopathologic and genetic features of nonfamilial colorectal carcinomas with DNA replication errors. Cancer 1998;82:279-85.
134. Ahuja N, Li Q, Mohan AL, Baylin SB, Issa JPJ. Aging and DNA methylation in colorectal mucosa and cancer. Cancer Res 1998;58:5489-94.
135. Leung SY, Yuen ST, Chung LP, Chu KM, Chan ASY, Ho JCI. hMLH1 promoter methylation and lack of hMLH1 expression in sporadic gastric carcinomas with high-frequency microsatellite instability. Cancer Res 1999;59:159-64.
136. Fleisher AS, Esteller M, Wang S, et al. Hypermethylation of the hMLH1 gene promoter in human gastric cancers with microsatellite instability. Cancer Res 1999;59:1090-5.
137. Esteller M, Levine R, Baylin SB, Ellenson LH, Herman JG. MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas. Oncogene 1998;16:2413-17.
138. Cattanach BM, Beechey CV. Autosomal and X-chromosome imprinting. Development 1990;suppl:63-72.
139. Sapienza C, Paquete J, Tran TH, Peterson A. Epigenetic and genetic factors affect transgene methylation imprinting. Development 1989;107:165-8.
140. Rainier S, Johnson LA, Dobry CJ, Ping AJ, Grundy PE, Feinberg AP. Relaxation of imprinted genes in human cancer. Nature 1993;362:747-9.
141. Feinberg AP. Genomic imprinting and cancer. In: Vogelstein B, Kinzler KW, eds. The genetic basis of human cancer. New York: McGraw Hill, 1998:95-107.
142. Cui H, Horon IL, Ohlsson R, Hamilton SR, Feinberg AP. Loss of imprinting in normal tissue of colorectal cancer patients with microsatellite instability. Nat Med 1998;4:1276-80.
143. Wang Q, Lasset C, Desseigne F, et al. Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res 1999;59:294-7.
144. Ricciardone MD, Özçelik T, Cevher B, et al. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type I. Cancer Res 1999;59:290-3.
145. Hackman P, Tannergard P, Osei-Mensa S, et al. A human compound heterozygote for two MLH1 missense mutations. Nat Genet 1997;17:135-6.
146. Laken SJ, Petersen GM, Gruber SB, et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 1997;17:79-83.
147. Greenwald P, Korns RF, Nasca PC, Wolfgang PE. Cancer in United States Jews. Cancer Res 1975;35:3507-12.
148. Bat L, Pines A, Ron E, Rosenblum Y, Niv Y, Shemesh E. Colorectal adenomatous polyps and carcinoma in Ashkenazi and non-Ashkenazi Jews in Israel. Cancer 1986;-58:1167-71.
149. Kune S, Kune GA, Watson L. The Melbourne Colorectal Cancer Study: incidence findings by age, sex, site, migrants and religion. Int J Epidemiol 1986;15:483-93.
150. White RL. Excess risk of colon cancer associated with a polymorphism of the APC gene? Cancer Res 1998;58:4038-9.
151. Gruber SB, Petersen GM, Kinzler KW, Vogelstein B. Cancer, crash sites, and the new genetics of neoplasia. Gastroenterology 1999;116:210-12.
152. Lothe RA, Hektoen M, Johnsen H, et al. The APC gene I1307K variant is rare in Norwegian patients with familial and sporadic colorectal or breast cancer. Cancer Res 1998;-58:2923-4.
153. Prior TW, Chadwick RB, Papp AC, et al. The I1307K polymorphism of the APC gene in colorectal cancer. Gastroenterology 1999;116:58-63.
154. Rozen P, Shomrat R, Strul H, Naiman T, Karminsky N. Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer. Gastroenterology 1999;116:54-7.
155. de la Chapelle A. Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 1993;30:857-65.
156. Petrukhin L, Dangel J, Vanderveer L, et al. The I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashkenazi breast and breast-ovarian cancer kindreds. Cancer Res 1997;57:5480-4.
157. Abrahamson J, Moslehi R, Vesprini D, et al. No association of the I1307K APC allele with ovarian cancer risk in Ashkenazi Jews. Cancer Res 1998;58:2919-22.
158. Gryfe R, Di Nicola N, Lal G, Gallinger S, Redston M. Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism. Am J Hum Genet 1999;64:378-84.
159. Woodage T, King SM, Wacholder S, et al. The APC I1307K allele and cancer risk in a community-based study of Ashkenazi Jews. Nat Genet 1998;20:62-5.
160. Gryfe R, Di Nicola N, Gallinger S, Redston M. Somatic instability of the APC I1307K allele in colorectal neoplasia. Cancer Res 1998;58:4040-3.
161. Frayling IM, Beck NE, Ilyas M, et al. The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc Natl Acad Sci USA 1998;95:10722-7.
162. Redston M, Nathanson KL, Yuan ZQ, et al. The APC I1307K allele and breast cancer risk. Nat Genet 1998;20:13-14.
163. Storey A, Thomas M, Kalita A, et al. Role of a p53 polymorphism in the development of human papillomavirus-associated cancer. Nature 1998;21:229-34.
164. 1317) in a cancer-prone family that does not result in familial adenomatous polyposis. Genes, Chrom Cancer 1996;-15:122-8.