The genetics of HNPCC: Application to diagnosis and screening

Critical Reviews in Oncology/Hematology

Volumn 58, Issue 3, 2006, Pages 208-220

  Abdel Rahman, Wael M ^a   Mecklin, Jukka Pekka ^b   Peltomäki, Päivi ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b JYVÄSKYLÄ CENTRAL HOSPITAL   (Finland)

Author keywords

Colorectal cancer; HNPCC; Lynch syndrome; Microsatellite instability; Mismatch repair; Muir Torre syndrome; Turcot's syndrome

Indexed keywords

ACETYLSALICYLIC ACID; CYCLOOXYGENASE 2 INHIBITOR; MISMATCH REPAIR PROTEIN PMS2; NONSTEROID ANTIINFLAMMATORY AGENT; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ADENOMATOUS POLYP; CANCER DIAGNOSIS; CANCER GENETICS; CANCER PREVENTION; CANCER RISK; CANCER SCREENING; CANCER SURGERY; CLINICAL FEATURE; COLORECTAL CANCER; COST EFFECTIVENESS ANALYSIS; DNA REPLICATION; FAMILY HISTORY; FEMALE GENITAL TRACT TUMOR; GENE MUTATION; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENOMIC INSTABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; LARGE INTESTINE TUMOR; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MOLECULAR GENETICS; MUIR TORRE SYNDROME; PHENOTYPE; PRACTICE GUIDELINE; REVIEW; SEQUENCE HOMOLOGY; TURCOT SYNDROME;

ANIMALS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR; GENES, NEOPLASM; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOMIC INSTABILITY; HUMANS; MUTATION; PEDIGREE; RISK FACTORS;

EID: 33646918038     PISSN: 10408428     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.critrevonc.2005.11.001     Document Type: Review

References (136)

1. Globcan 2002 database. International Agency for Research on Cancer. Available at http://www-dep.iarc.fr/, last accessed 2005.
2. de la Chapelle A. Genetic predisposition to colorectal cancer. Nat Rev Cancer 4 (2004) 769-780
3. Lynch H.T., and de la Chapelle A. Genomic medicine-hereditary colorectal cancer. New Eng J Med 348 (2003) 919-932
4. Mecklin J.P. Frequency of hereditary colorectal-carcinoma. Gastroenterology 93 (1987) 1021-1025
5. Abdel-Rahman W.M., and Peltomaki N. Molecular basis and diagnostics of hereditary colorectal cancers. Ann Med 36 (2004) 379-388
6. Warthin A.S. Heredity with reference to carcinoma as shown by the study of the cases examined in the pathological laboratory of the University of Michigan, 1895-1913. Arch Intern Med (1913) 546-555
7. Lynch H.T., Shaw M.W., Magnuson C.W., Larsen A.L., and Krush A.J. Hereditary factors in cancer: study of two large Midwestern kindreds. Arch Intern Med 117 (1966) 206-212
8. Lynch H.T., and Krush A.J. Cancer Family Syndrome and Cancer Control. Surg Gynecol Obstetr 132 (1971) 247-250
9. Mecklin J.P., Järvinen H.J., and Peltokallio P. Cancer family syndrome-genetic-analysis of 22 Finnish kindreds. Gastroenterology 90 (1986) 328-333
10. Yan H., Papadopoulos N., Marra G., et al. Conversion of diploidy to haploidy-Individuals susceptible to multigene disorders may now be spotted more easily. Nature 403 (2000) 723-724
11. Jass J.R., Smyrk T.C., Stewart S.M., Lane M.R., Lanspa S.J., and Lynch H.T. Pathology of hereditary non-polyposis colorectal cancer. Anticancer Res 14 (1994) 1631-1634
12. Smyrk T.C., Watson P., Kaul K., and Lynch H.T. Tumor-infiltrating lymphocytes are a marker for microsatellite instability in colorectal carcinoma. Cancer 91 (2001) 2417-2422
13. Jass J.R. Role of the pathologist in the diagnosis of hereditary non-polyposis colorectal cancer. Dis Markers 20 (2004) 215-224
14. Vasen HFA, Mecklin J.P., Khan P.M., and Lynch H.T. The International Collaborative Group on hereditary nonpolyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 34 (1991) 424-425
15. Popat S., Hubner R., and Houlston R.S. Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 23 (2005) 609-618
16. Mecklin J.P., and Järvinen H.J. Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer 68 (1991) 1109-1112
17. Watson P., and Lynch H.T. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71 (1993) 677-685
18. Aarnio M., Sankila R., Pukkala E., et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81 (1999) 214-218
19. Umar A., Boland C.R., Terdiman J.P., et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96 (2004) 261-268
20. Schwartz R.A., and Torre D.P. The Muir-Torre syndrome-a 25-year retrospect. J Am Acad Dermatol 33 (1995) 90-104
21. Kruse R., Rutten A., Schweiger N., et al. Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias. J Invest Dermatol 120 (2003) 858-864
22. Bapat B., Xia L., Madlensky L., et al. The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. Am J Hum Genet 59 (1996) 736-739
23. Lynch H.T., Lynch P.M., Pester J., and Fusaro R.M. The cancer family syndrome-rare cutaneous phenotypic linkage of Torre's syndrome. Arch Intl Med 141 (1981) 607-611
24. Chen C.S., Loweinstein L., James C., Huilgol S.C., and Selva D. Muir-Torre syndrome and early detection of internal malignancy. Med J Aust 178 (2003) 368
25. Mangold E., Pagenstecher C., Leister M., et al. A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. J Med Genet 41 (2004) 567-572
26. Kruse R., and Ruzicka T. DNA mismatch repair and the significance of a sebaceous skin tumor for visceral cancer prevention. Trends Mol Med 10 (2004) 136-141
27. Wu Y., Berends MJW, Sijmons R.H., et al. A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet 29 (2001) 137-138
28. Liu H.X., Zhou X.L., Liu T., et al. The role of hMLH3 in familial colorectal cancer. Cancer Res 63 (2003) 1894-1899
29. Hienonen T., Laiho P., Salovaara R., et al. Little evidence for involvement of MLH3 in colorectal cancer predisposition. Int J Cancer 106 (2003) 292-296
30. Peltomäki P., and Vasen H. Mutations associated with HNPCC predisposition-update of ICG-HNPCC/insight mutation database. Dis Markers 20 (2004) 269-276
31. Boland C.R., Thibodeau S.N., Hamilton S.R., et al. National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58 (1998) 5248-5257
32. Truninger K., Menigatti M., Luz J., et al. Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Gastroenterology 128 (2005) 1160-1171
33. Nakagawa H., Lockman J.C., Frankel W.L., et al. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res 64 (2004) 4721-4727
34. Worthley D.L., Walsh M.D., Barker M., et al. Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. Gastroenterology 128 (2005) 1431-1436
35. Liu T., Yan H., Kuismanen S., et al. The role of hPMS1 and hPMS2 in predisposing to colorectal cancer. Cancer Res 61 (2001) 7798-7802
36. Ricciardone M.D., Ozcelik T., Cevher B., et al. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res 59 (1999) 290-293
37. Vilkki S., Tsao J.L., Loukola A., et al. Extensive somatic microsatellite mutations in normal human tissue. Cancer Res 61 (2001) 4541-4544
38. Raevaara T.E., Gerdes A.M., Lonnqvist K.E., et al. HNPCC mutation MLHI P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. Genes Chromosomes Cancer 40 (2004) 261-265
39. Shin K.H., Park Y.J., and Park J.G. Mutational analysis of the transforming growth factor beta receptor type II gene in hereditary nonpolyposis colorectal cancer and early-onset colorectal cancer patients. Clin Cancer Res 6 (2000) 536-540
40. Lu S.L., Kawabata M., Imamura T., et al. HNPCC associated with germline mutation in the TGF-beta type II receptor gene. Nat Genet 19 (1998) 17-18
41. Frayling I.M., Beck N.E., 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 95 (1998) 10722-10727
42. Al-Tassan N., Chmiel N.H., Maynard J., et al. Inherited variants of MYH associated with somatic G:C->T:A mutations in colorectal tumors. Nat Genet 30 (2002) 227-232
43. Lammi L., Arte S., Somer M., et al. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet 74 (2004) 1043-1050
44. Alam N.A., Gorman P., Jaeger E.E.M., et al. Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability. Cancer Genet Cytogenet 147 (2003) 121-127
45. Jagmohan-Changur S., Poikonen T., Vilkki S., et al. EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer. Cancer Res 63 (2003) 154-158
46. Sun X.M., Zheng L., and Shen B.H. Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome. Cancer Res 62 (2002) 6026-6030
47. Tomlinson I., and Houlston R. Is EXO1 a colon cancer predisposition gene?. Gastroenterology 120 (2001) 1860-1861
48. Wu Y., Berends MJW, Post J.G., et al. Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms. Gastroenterology 120 (2001) 1580-1587
49. Yamamoto H., Hanafusa H., Ouchida M., et al. Single nucleotide polymorphisms in the EXO1 gene and risk of colorectal cancer in a Japanese population. Carcinogenesis 26 (2005) 411-416
50. Suter C.M., Martin DIK, and Ward R.L. Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet 36 (2004) 497-501
51. Ward R.L., Williams R., Law M., and Hawkins N.J. The CpG island methylator phenotype is not associated with a personal or family history of cancer. Cancer Res 64 (2004) 7618-7621
52. Parsons R., Li G.M., Longley M.J., et al. Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell 75 (1993) 1227-1236
53. Hemminki A., Peltomäki P., Mecklin J.P., et al. Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorecta cancer. Nat Genet 8 (1994) 405-410
54. Liu B., Parsons R.E., Hamilton S.R., et al. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res 54 (1994) 4590-4594
55. Kuismanen S.A., Holmberg M.T., Salovaara R., de la Chapelle A., and Peltomäki P. Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol 156 (2000) 1773-1779
56. Kuismanen S.A., Holmberg M.T., Salovaara R., et al. Epigenetic phenotypes distinguish microsatellite stable and unstable colorectal cancers. Proc Natl Acad Sci USA 96 (1999) 12661-12666
57. de Jong A.E., Morreau H., Van Puijenbroek M., et al. The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC. Gastroenterology 126 (2004) 42-48
58. Abdel-Rahman W.M., Georgiades I.B., Curtis L.J., Arends M.J., and Wyllie A.H. Role of BAX mutations in mismatch repair-deficient colorectal carcinogenesis. Oncogene 18 (1999) 2139-2142
59. Duval A., Iacopetta B., Ranzani G.N., Lothe R.A., Thomas G., and Hamelin R. Variable mutation frequencies in coding repeats of TCF-4 and other target genes in colon, gastric and endometrial carcinoma showing microsatellite instability. Oncogene 18 (1999) 6806-6809
60. Ionov Y., Peinado M.A., Malkhosyan S., Shibata D., and Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363 (1993) 558-561
61. Yamamoto H., Imai K., and Perucho M. Gastrointestinal cancer of the microsatellite mutator phenotype pathway. J Gastroenterol 37 (2002) 153-163
62. Loeb L.A., Loeb K.R., and Anderson J.P. Multiple mutations and cancer. Proc Natl Acad Sci USA 100 (2003) 776-781
63. Sieber O.M., Heinimann K., and Tomlinson IP.M. Genomic instability-the engine of tumorigenesis?. Nat Rev Cancer 3 (2003) 701-708
64. Vasen H.F., Watson P., Mecklin J.-P., and Lynch H.T. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116 (1999) 1453-1456
65. Rodriguez-Bigas M.A., Boland C.R., Hamilton S.R., et al. A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89 (1997) 1758-1762
66. Cai S.J., Xu Y., Cai G.X., et al. Clinical characteristics and diagnosis of patients with hereditary nonpolyposis colorectal cancer. World J Gastroenterol 9 (2003) 284-287
67. Umar A., Risinger J.I., Hawk E.T., and Barrett J.C. Testing guidelines for hereditary non-polyposis colorectal cancer. Nat Rev Cancer 4 (2004) 153-158
68. de Jong A.E., van Puijenbroek M., Hendriks Y., et al. Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res 10 (2004) 972-980
69. Wahlberg S.S., Schmeits J., Thomas G., et al. Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. Cancer Res 62 (2002) 3485-3492
70. Pinol V., Castells A., Andreu M., et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 293 (2005) 1986-1994
71. Lindor N.M., Burgart L.J., Leontovich O., et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 20 (2002) 1043-1048
72. Vasen HFA, and Boland C.R. Progress in genetic testing, classification, and identification of Lynch syndrome. JAMA 293 (2005) 2028-2030
73. Loukola A., Eklin K., Laiho P., et al. Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC). Cancer Res 61 (2001) 4545-4549
74. Hampel H., Frankel W.L., Martin E., et al. Screening for the Lynch syndrome (Hereditary nonpolyposis colorectal cancer). New Eng J Med 352 (2005) 1851-1860
75. Hampel H., Stephens J.A., Pukkala E., et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 129 (2005) 415-421
76. Liu B., Parsons R., Papadopoulos N., et al. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nature Med 2 (1996) 169-174
77. Renkonen E., Zhang Y.G., Lohi H., et al. Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. J Clin Oncol 21 (2003) 3629-3637
78. Wijnen J., van der Klift H., Vasen H., et al. MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 20 (1998) 326-328
79. Scartozzi M., Bianchi F., Rosati S., et al. Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression. J Clin Oncol 20 (2002) 1203-1208
80. Peltomäki P., and Vasen H. Mutations associated with HNPCC predisposition-Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 20 (2004) 269-276
81. Guerrette S., Wilson T., Gradia S., and Fishel R. Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. Mol Cell Biol 18 (1998) 6616-6623
82. Guerrette S., Acharya S., and Fishel R. The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. J Biol Chem 274 (1999) 6336-6341
83. Ellison A.R., Lofing J., and Bitter G.A. Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. Hum Mol Genet 10 (2001) 1889-1900
84. Ellison A.R., Lofing J., and Bitter G.A. Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain. Nucl Acids Res 32 (2004) 5321-5338
85. Trojan J., Zeuzem S., Randolph A., et al. Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. Gastroenterology 122 (2002) 211-219
86. Raevaara T.E., Vaccaro C., Abdel-Rahman W.M., et al. Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein. Gastroenterology 125 (2003) 501-509
87. Raevaara T.E., Timohariu T., Lonnqvist K.E., et al. Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer. J Med Genet 39 (2002) 747-750
88. Nyström-Lahti M., Perrera C., Raschle M., et al. Functional analysis of MLHI mutations linked to hereditary nonpolyposis colon cancer. Genes Chromosomes Cancer 33 (2002) 160-167
89. Kariola R., Otway R., Lonnqvist K.E., et al. Two mismatch repair gene mutations found in a colon cancer patient-which one is pathogenic?. Hum Genet 112 (2003) 105-109
90. Kariola R., Raevaara T.E., Lonnqvist K.E., and Nyström-Lahti M. Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome. Hum Mol Genet 11 (2002) 1303-1310
91. Shimodaira H., Filosi N., Shibata H., et al. Functional analysis of human MLH1 mutations in Saccharomyces cevevisiae. Nat Genet 19 (1998) 384-389
92. Kariola R., Hampel H., Frankel W.L., Raevaara T.E., de la Chapelle A., and Nystro-Lahti M. MSH6 missense mutations are often associated with no or low cancer susceptibility. Br J Cancer 91 (2004) 1287-1292
93. Raevaara T.E., Korhonen M.K., Lohi H., et al. Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 129 (2005) 537-549
94. Lerman C., Hughes C., Trock B.J., et al. Genetic testing in families with hereditary nonpolyposis colon cancer. JAMA 281 (1999) 1618-1622
95. Ponz de Leon M., Benatti P., Di Gregorio C., et al. Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer. Br J Cancer 90 (2004) 882-887
96. Aktan-Collan K., Mecklin J.P., Jarvinen H., et al. Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction. Int J Cancer 89 (2000) 44-50
97. Burke W., Petersen G., Lynch P., et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. 1. Hereditary nonpolyposis colon cancer. JAMA 277 (1997) 915-919
98. Järvinen H.J., Aarnio M., Mustonen H., et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 118 (2000) 829-834
99. Vasen HFA, Nagengast F.M., and Khan P.M. Interval cancers in hereditary nonpolyposis colorectal-cancer (Lynch Syndrome). Lancet 345 (1995) 1183-1184
100. Lynch H.T., and de la Chapelle A. Hereditary colorectal cancer. New Eng J Med 348 (2003) 919-932
101. Moslein G., Pistorius S., Saeger H.D., and Schackert H.K. Preventive surgery for colon cancer in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer syndrome. Langenbecks Arch Surg 388 (2003) 9-16
102. Wijnen J., de Leeuw W., Vasen H., et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 23 (1999) 142-144
103. Aarnio M., Mecklin J.P., Aaltonen L.A., Nyström-Lahti M., and Järvinen H.J. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 64 (1995) 430-433
104. Wagner A., Hendriks Y., Meijers-Heijboer E.J., et al. Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet 38 (2001) 318-322
105. Hendriks Y.M.C., Wagner A., Morreau H., et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 127 (2004) 17-25
106. Vasen H.F.A. Clinical diagnosis and management of hereditary colorectal cancer syndromes. J Clin Oncol 18 (2000) 81S-92S
107. Vasen H.F.A., Watson P., Mecklin J.P., et al. The epidemiology of endometrial cancer in hereditary nonpolyposis colorectal cancer. Anticancer Res 14 (1994) 1675-1678
108. Boks DES, Trujillo A.P., Voogd A.C., Morreau H., Kenter G.G., and Vasen HF.A. Survival analysis of endometrial carcinoma associated with hereditary nonpolyposis colorectal cancer. Int J Cancer 102 (2002) 198-200
109. Dove-Edwin I., Boks D., Goff S., et al. The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer 94 (2002) 1708-1712
110. Hamilton S.R., Liu B., Parsons R.E., et al. The molecular basis of Turcot's syndrome. New Eng J Med 332 (1995) 839-847
111. Baron J.A., Cole B.F., Sandler R.S., et al. A randomized trial of aspirin to prevent colorectal adenomas. New Eng J Med 348 (2003) 891-899
112. Sandler R.S., Halabi S., Baron J.A., et al. A randomized trial of aspirin to prevent colorectal adenomas in patients with previous colorectal cancer. New Eng J Med 348 (2003) 883-890
113. Phillips R.K.S., Wallace M.H., Lynch P.M., et al. A randomised, double blind, placebo controlled study of celecoxib, a selective cyclooxygenase 2 inhibitor, on duodenal polyposis in familial adenomatous polyposis. Gut 50 (2002) 857-860
114. Benamouzig R., Deyra J., Martin A., et al. Daily soluble aspirin and prevention of colorectal adenoma recurrence: one-year results of the APACC trial. Gastroenterology 125 (2003) 328-336
115. Watson P., Ashwathnarayan R., Lynch H.T., and Roy H.K. Tobacco use and increased colorectal cancer risk in patients with hereditary nonpolyposis colorectal cancer (Lynch syndrome). Arch Intern Med 164 (2004) 2429-2431
116. Church J., and Simmang C. Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer). Dis Colon Rectum 46 (2003) 1001-1012
117. Cappel W., Buskens E., van Duijvendijk P., et al. Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect. Gut 52 (2003) 1752-1755
118. Syngal S., Weeks J.C., Schrag D., Garber J.E., and Kuntz K.M. Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations. Ann Intern Med 129 (1998) 787-796
119. Vasen HFA, van Ballegooijen M., Buskens E., et al. A cost-effectiveness analysis of colorectal screening of hereditary nonpolyposis colorectal carcinoma gene carriers. Cancer 82 (1998) 1632-1637
120. Ramsey S.D., Clarke L., Etzioni R., Higashi M., Berry K., and Urban N. Cost-effectiveness of microsatellite instability screening as a method for detecting hereditary nonpolyposis colorectal cancer. Ann Intern Med 135 (2001) 577-588
121. Nyström-Lahti M., Wu Y., Moisio A.L., et al. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet 5 (1996) 763-769
122. Wijnen J., Khan P.M., 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 61 (1997) 329-335
123. Bisgaard M.L., Jager A.C., Myrhoj T., Bernstein I., and Nielsen F.C. Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without indentified mutation. Hum Mutat 20 (2002) 20-27
124. Benatti P., Roncucci L., Ganazzi D., et al. Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer. Int J Cancer 95 (2001) 323-328
125. Lindor N.M., Rabe K., Petersen G.M., et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency-Familial colorectal cancer type X. JAMA 293 (2005) 1979-1985
126. Abdel-Rahman W.M., Ollikainen M., Kariola R., et al. Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations. Oncogene 24 (2005) 1542-1551
127. Frazier M.L., Xi L.X., Zong J.H., et al. Association of the CpG island methylator phenotype with family history of cancer in patients with colorectal cancer. Cancer Res 63 (2003) 4805-4808
128. Ricciardiello L., Goel A., Mantovani V., et al. Frequent loss of hMLH1 by promoter hypermethylation leads to microsatellite instability in adenomatous polyps of patients with a single first-degree member affected by colon cancer. Cancer Res 63 (2003) 787-792
129. Domingo E., Laiho P., Ollikainen M., et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 41 (2004) 664-668
130. Chan T.L., Yuen S.T., Chung L.P., et al. Germline hMSH2 and differential somatic mutations in patients with Turcot's syndrome. Genes Chromosomes Cancer 25 (1999) 75-81
131. Bougeard L., Charbonnier F.O., Moerman A., et al. Early-onset brain tumor and lymphoma in MSH2-deficient children. Am J Hum Genet 72 (2003) 213-216
132. De Rosa M., Fasano C., Panariello L., et al. Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. Oncogene 19 (2000) 1719-1723
133. Hegde M.R., Chong B., Blazo M.E., et al. A homozygous mutation in MSH6 causes Turcot syndrome. Clin Cancer Res 11 (2005) 4689-4693
134. Mori T., Nagase H., Horii A., et al. Germ-line and somatic mutations in the APC gene in patients with Turcot syndrome and analysis of APC mutations in brain tumors. Genes Chromosomes Cancer 9 (1994) 168-172
135. Nicolaides N.C., Littman S.J., Modrich P., Kinzler K.W., and Vogelstein B. A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. Mol Cell Biol 18 (1998) 1635-1641
136. Leung S.Y., Yuen S.T., Chan T.L., et al. Chromosomal instability and p53 inactivation are required for genesis of glioblastoma but not for colorectal cancer in patients with germline mismatch repair gene mutation. Oncogene 19 (2000) 4079-4083