Current hypotheses on how microsatellite instability leads to enhanced survival of lynch syndrome patients

Clinical and Developmental Immunology

Volumn 2010, Issue , 2010, Pages

  Drescher, Kristen M ^a   Sharma, Poonam ^a   Lynch, Henry T ^a  

^a CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOPTOSIS; BASE MISPAIRING; CANCER CONTROL; CANCER SURVIVAL; CELL DEATH; CYTOTOXICITY; ENZYME ACTIVATION; GENE EXPRESSION; GENE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; IMMUNOMODULATION; LYMPHOCYTIC INFILTRATION; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; NONHUMAN; PATIENT; PRIORITY JOURNAL; PROGNOSIS; REVIEW; SIGNAL TRANSDUCTION; TUMOR ASSOCIATED LEUKOCYTE; ADENOCARCINOMA; ANIMAL; FEMALE; GENETICS; IMMUNOLOGY; MALE; MORTALITY; MOUSE; PATHOLOGY; SURVIVAL RATE;

MICROSATELLITE DNA;

ADENOCARCINOMA; ANIMALS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FEMALE; HUMANS; MALE; MICE; MICROSATELLITE INSTABILITY; MICROSATELLITE REPEATS; SURVIVAL RATE;

EID: 77954611510     PISSN: 17402522     EISSN: 17402530     Source Type: Journal    
DOI: 10.1155/2010/170432     Document Type: Review

References (154)

1. Warthin A. S., Hereditary with reference to carcinoma as shown by the study of the cases examined in the pathological laboratory of the University of Michigan, 18951913 Archives of Internal Medicine 1913 12 546 555
2. Lynch H. T., Shaw M. W., Magnuson C. W., Larsen A. L., Krush A. J., Hereditary factors in cancer. Study of two large midwestern kindreds Archives of Internal Medicine 1966 117 2 206 212
3. Lynch H. T., Krush A. J., Cancer family "G" revisited: 18951970 Cancer 1971 27 6 1505 1511
4. Thibodeau S. N., Bren G., Schaid D., Microsatellite instability in cancer of the proximal colon Science 1993 260 5109 816 819
5. Ionov Y., Peinado M. A., Malkhosyan S., Shibata D., Perucho M., Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis Nature 1993 363 6429 558 561
6. Aaltonen L. A., Peltomaki P., Leach F. S., Sistonen P., Pylkkanen L., Mecklin J.-P., Jarvinen H., Powell S. M., Jen J., Hamilton S. R., Petersen G. M., Kinzler K. W., Vogelstein B., De La Chapelle A., Clues to the pathogenesis of familial colorectal cancer Science 1993 260 5109 812 816
7. Sijmons R. H., Kiemeney L. A. L. M., Witjes J. A., Vasen H. F. A., Urinary tract cancer and hereditary nonpolyposis colorectal cancer: risks and screening options Journal of Urology 1998 160 2 466 470
8. Aarnio M., Mecklin J.-P., Aaltonen L. A., Nystrom-Lahti M., Jarvinen H. J., Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome International Journal of Cancer 1995 64 6 430 433
9. Watson P., Vasen H. F. A., Mecklin J. P., Jrvinen H., Lynch H. T., The risk of endometrial cancer in hereditary nonpolyposis colorectal cancer American Journal of Medicine 1994 96 6 516 520 (Pubitemid 24184436)
10. Watson P., Vasen H. F. A., Mecklin J.-P., Bernstein I., Aarnio M., Jrvinen H. J., Myrhoj T., Sunde L., Wijnen J. T., Lynch H. T., The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome International Journal of Cancer 2008 123 2 444 449
11. Watson P., Lin K. M., Rodriguez-Bigas M. A., Smyrk T., Lemon S., Shashidharan M., Franklin B., Karr B., Thorson A., Lynch H. T., Colorectal carcinoma survival among hereditary nonpolyposis colorectal carcinoma family members Cancer 1998 83 2 259 266 (Pubitemid 28317805)
12. Vasen H. F. A., Offerhaus G. J. A., den Hartog Jager F. C. A., Menko F. H., Nagengast F. M., Griffioen G., Van Hogezand R. B., Heintz A. P. M., The tumour spectrum in hereditary non-polyposis colorectal cancer: a study of 24 kindreds in The Netherlands International Journal of Cancer 1990 46 1 31 34
13. Watson P., Lynch H. T., Extracolonic cancer in hereditary nonpolyposis colorectal cancer Cancer 1993 71 3 677 685
14. Vasen H. F. A., Wijnen J. T., Menko F. H., Kleibeuker J. H., Taal B. G., Griffioen G., Nagengast F. M., Meuers-Heijboer E.H., Bertario L., Varesco L., Bisgaard M.L., Mohr J., Fodde R., Khan P. M., Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis Gastroenterology 1996 110 4 1020 1027
15. Vasen H. F. A., Sanders E. A. C. M., Taal B. G., Nagengast F. M., Griffioen G., Menko F. H., Kleibeuker J. H., Houwing-Duistermaat J. J., Meera Khan P., The risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC) International Journal of Cancer 1996 65 4 422 425
16. Vasen H. F. A., Morreau H., Nortier J. W. R., Is breast cancer part of the tumor spectrum of hereditary nonpolyposis colorectal cancer? American Journal of Human Genetics 2001 68 6 1533 1535
17. Boyd J., Rhei E., Federici M. G., Borgen P. I., Watson P., Franklin B., Karr B., Lynch J., Lemon S. J., Lynch H. T., Male breast cancer in the hereditary nonpolyposis colorectal cancer syndrome Breast Cancer Research and Treatment 1999 53 1 87 91
18. Kinoshita H., Yanagisawa A., Watanabe T., Nagawa H., Oya M., Kato Y., Muto T., Increase in the frequency of K-ras codon 12 point mutation in colorectal carcinoma in elderly males in Japan: the 1990s compared with the 1960s Cancer Science 2005 96 4 218 220
19. Liang J.-T., Cheng Y.-M., Chang K.-J., Chien C.-T., Hsu H. C., Reappraisal of K-ras and p53 gene mutations in the recurrence of Dukes' B2 rectal cancer after curative resection Hepato-Gastroenterology 1999 46 26 830 837
20. Enomoto T., Fujita M., Inoue M., Rice J. M., Nakajima R., Tanizawa O., Nomura T., Alterations of the p53 tumor suppressor gene and its association with activation of the c-K-ras-2 protooncogene in premalignant and malignant lesions of the human uterine endometrium Cancer Research 1993 53 8 1883 1888
21. Slebos R. J. C., Kibbelaar R. E., Dalesio O., Kooistra A., Stam J., Meijer C. J. L. M., Wagenaar S. S., Vanderschueren R. G. J. R. A., Van Zandwijk N., Moot W. J., Bos J. L., Rodenhuis S., K-ras oncogene activation as a prognostic marker in adenocarcinoma of the lung New England Journal of Medicine 1990 323 9 561 565
22. Shibata D., Capella G., Perucho M., Mutational activation of the c-K-ras gene in human pancreatic carcinoma Bailliere's Clinical Gastroenterology 1990 4 1 151 169
23. Shukla V. K., Hughes D. C., Hughes L. E., McCormick F., Padua R. A., ras mutations in human melanotic lesions: K-ras activation is a frequent and early event in melanoma development Oncogene Research 1989 5 2 121 127
24. Fearon E. R., Vogelstein B., A genetic model for colorectal tumorigenesis Cell 1990 61 5 759 767
25. Yamamoto H., Sawai H., Weber T. K., Rodriguez-Bigas M. A., Perucho M., Somatic frameshift mutations in DNA mismatch repair and proapoptosis genes in hereditary nonpolyposis colorectal cancer Cancer Research 1998 58 5 997 1003
26. Losi L., Ponz de Leon M., Jiricny J., Di Gregorio C., Benatti P., Percesepe A., Fante R., Roncucci L., Pedroni M., Benhattar J., K-ras and p53 mutations in hereditary non-polyposis colorectal cancers International Journal of Cancer 1997 74 1 94 96
27. Hendriks Y. M. C., de Jong A. E., Morreau H., Tops C. M. J., Vasen H. F., Wijnen J. TH., Breuning M. H., Brcker-Vriends A. H. J. T., Diagnostic approach and management of Lynch syndrome (Hereditary Nonpolyposis Colorectal Carcinoma): a guide for clinicians CA: A Cancer Journal for Clinicians 2006 56 4 213 225
28. Graham D. M., Appelman H. D., Crohn's-like lymphoid reaction and colorectal carcinoma: a potential histologic prognosticator Modern Pathology 1990 3 3 332 335
29. Popat S., Hubner R., Houlston R. S., Systematic review of microsatellite instability and colorectal cancer prognosis Journal of Clinical Oncology 2005 23 3 609 618
30. Dolcetti R., Viel A., Doglioni C., Russo A., Guidoboni M., Capozzi E., Vecchiato N., Macri E., Fornasarig M., Boiocchi M., High prevalence of activated intraepithelial cytotoxic T lymphocytes and increased neoplastic cell apoptosis in colorectal carcinomas with microsatellite instability American Journal of Pathology 1999 154 6 1805 1813
31. Drescher K. M., Sharma P., Watson P., Gatalica Z., Thibodeau S. N., Lynch H. T., Lymphocyte recruitment into the tumor site is altered in patients with MSI-H colon cancer Familial Cancer 2009 8 3 231 239
32. Bennett M. W., O'Connell J., O'Sullivan G. C., Brady C., Roche D., Kevin Collins J., Shanahan F., The Fas counterattack in vivo: apoptotic depletion of tumor-infiltrating lymphocytes associated with Fas ligand expression by human esophageal carcinoma Journal of Immunology 1998 160 11 5669 5675
33. Fisk B., Anderson B. W., Gravitt K. R., O'Brian C. A., Kudelka A. P., Murray J. L., Wharton J. T., Ioannides C. G., Identification of naturally processed human ovarian peptides recognized by tumor-associated CD8+ cytotoxic T lymphocytes Cancer Research 1997 57 1 87 93 (Pubitemid 27020334)
34. Sankila R., Aaltonen L. A., Jarvinen H. J., Mecklin J.-P., Better survival rates in patients with MLH1-associated hereditary colorectal cancer Gastroenterology 1996 110 3 682 687
35. Rhyu M. S., Molecular mechanisms underlying hereditary nonpolyposis colorectal carcinoma Journal of the National Cancer Institute 1996 88 5 240 251
36. Frei J. V., Hereditary nonpolyposis colorectal cancer (Lynch syndrome II): diploid malignancies with prolonged survival Cancer 1992 69 5 1108 1111
37. Kouri M., Laasonen A., Mecklin J.-P., Jarvinen H., Franssila K., Pyrhonen S., Diploid predominance in hereditary nonpolyposis colorectal carcinoma evaluated by flow cytometry Cancer 1990 65 8 1825 1829
38. Foley E. J., Antigenic properties of methylcholanthrene-induced tumors in mice of the strain of origin Cancer Research 1953 13 835 837
39. Murray D., Hreno A., Dutton J., Hampson L. G., Prognosis in colon cancer. A pathologic reassessment Archives of Surgery 1975 110 8 908 913
40. Mann B., Gratchev A., Bhm C., Hanski M. L., Foss H. D., Demel G., Trojanek B., Schmidt-Wolf I., Stein H., Riecken E. O., Buhr H. J., Hanski C., FasL is more frequently expressed in liver metastases of colorectal cancer than in matched primary carcinomas British Journal of Cancer 1999 79 7-8 1262 1269
41. Buckowitz A., Knaebel H.-P., Benner A., Blker H., Gebert J., Kienle P., Von Knebel Doeberitz M., Kloor M., Microsatellite instability in colorectal cancer is associated with local lymphocyte infiltration and low frequency of distant metastases British Journal of Cancer 2005 92 9 1746 1753
42. Le Gouvello S., Bastuji-Garin S., Aloulou N., Mansour H., Chaumette M.-T., Berrehar F., Seikour A., Charachon A., Karoui M., Leroy K., Farcet J.-P., Sobhani I., High prevalence of Foxp3 and IL17 in MMR-proficient colorectal carcinomas Gut 2008 57 6 772 779
43. Morris M., Platell C., Iacopetta B., Tumor-infiltrating lymphocytes and perforation in colon cancer predict positive response to 5-fluorouracil chemotherapy Clinical Cancer Research 2008 14 5 1413 1417
44. Bennett M. W., O'Connell J., O'Sullivan G. C., Roche D., Brady C., Kelly J., Collins J. K., Shanahan F., Expression of Fas ligand by human gastric adenocarcinomas: a potential mechanism of immune escape in stomach cancer Gut 1999 44 2 156 162
45. Okada K., Komuta K., Hashimoto S., Matsuzaki S., Kanematsu T., Koji T., Frequency of apoptosis of tumor-infiltrating lymphocytes induced by Fas counterattack in human colorectal carcinoma and its correlation with prognosis Clinical Cancer Research 2000 6 9 3560 3564
46. Okano K., Maeba T., Moroguchi A., Ishimura K., Karasawa Y., Izuishi K., Goda F., Usuki H., Wakabayashi H., Maeta H., Lymphocytic infiltration surrounding liver metastases from colorectal cancer Journal of Surgical Oncology 2003 82 1 28 33
47. Smyrk T. C., Watson P., Kaul K., Lynch H. T., Tumor-infiltrating lymphocytes are a marker for microsatellite instability in colorectal carcinoma Cancer 2001 91 12 2417 2422
48. Prall F., Dhrkop T., Weirich V., Ostwald C., Lenz P., Nizze H., Barten M., Prognostic role of CD8+ tumor-infiltrating lymphocytes in stage III colorectal cancer with and without microsatellite instability Human Pathology 2004 35 7 808 816
49. Menon A. G., Janssen-van Rhijn C. M., Morreau H., Putter H., Tollenaar R. A. E. M., Van De Velde C. J. H., Fleuren G. J., Kuppen P. J. K., Immune system and prognosis in colorectal cancer: a detailed immunohistochemical analysis Laboratory Investigation 2004 84 4 493 501
50. Pags F., Kirilovsky A., Mlecnik B., Asslaber M., Tosolini M., Bindea G., Lagorce C., Wind P., Marliot F., Bruneval P., Zatloukal K., Trajanoski Z., Berger A., Fridman W.-H., Galon J., In situ cytotoxic and memory T cells predict outcome in patients with early-stage colorectal cancer Journal of Clinical Oncology 2009 27 35 5944 5951
51. Lynch H. T., de la Chapelle A., Hereditary colorectal cancer New England Journal of Medicine 2003 348 10 919 932
52. Hampel H., Frankel W. L., Martin E., Arnold M., Khanduja K., Kuebler P., Clendenning M., Sotamaa K., Prior T., Westman J. A., Panescu J., Fix D., Lockman J., LaJeunesse J., Comeras I., De La Chapelle A., Feasibility of screening for Lynch syndrome among patients with colorectal cancer Journal of Clinical Oncology 2008 26 35 5783 5788
53. Aaltonen L. A., Salovaara R., Kristo P., Canzian F., Hemminki A., Peltomki P., Chadwick R. B., Kriinen H., Eskelinen M., Jrvinen H., Mecklin J.-P., De La Chapelle A., Percesepe A., Ahtola H., Hrknen N., Julkunen R., Kangas E., Ojala S., Tulikoura J., Valkamo E., Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease New England Journal of Medicine 1998 338 21 1481 1487
54. Wijnen J., De Leeuw W., Vasen H., Van Der Klift H., Mller P., Stormorken A., Meijers-Heijboer H., Lindhout D., Menko F., Vossen S., Mslein G., Tops C., Brcker-Vriends A., Wu Y., Hofstra R., Sijmons R., Cornelisse C., Morreau H., Fodde R., Familial endometrial cancer in female carriers of MSH6 germline mutations Nature Genetics 1999 23 2 142 144
55. Cunningham J. M., Christensen E. R., Tester D. J., Kim C.-Y., Roche P. C., Burgart L. J., Thibodeau S. N., Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability Cancer Research 1998 58 15 3455 3460
56. Kuismanen S. A., Holmberg M. T., Salovaara R., de la Chapell A., Peltomaki P., Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers American Journal of Pathology 2000 156 5 1773 1779
57. Herman J. G., Umar A., Polyak K., Graff J. R., Ahuja N., Issa J.-P. J., Markowitz S., Willson J. K. V., Hamilton S. R., Kinzler K. W., Kane M. F., Kolodner R. D., Vogelstein B., Kunkel T. A., Baylin S. B., Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma Proceedings of the National Academy of Sciences of the United States of America 1998 95 12 6870 6875
58. Veigl M. L., Kasturi L., Olechnowicz J., Ma A., Lutterbaugh J. D., Periyasamy S., Li G.-M., Drummond J., Modrich P. L., Sedwick W. D., Markowitz S. D., Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers Proceedings of the National Academy of Sciences of the United States of America 1998 95 15 8698 8702
59. Mueller-Koch Y., Vogelsang H., Kopp R., Lohse P., Keller G., Aust D., Muders M., Gross M., Daum J., Schiemann U., Grabowski M., Scholz M., Kerker B., Becker I., Henke G., Holinski-Feder E., Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer Gut 2005 54 12 1733 1740
60. Lindor N. M., Rabe K., Petersen G. M., Haile R., Casey G., Baron J., Gallinger S., Bapat B., Aronson M., Hopper J., Jass J., LeMarchand L., Grove J., Potter J., Newcomb P., Terdiman J. P., Conrad P., Moslein G., Goldberg R., Ziogas A., Anton-Culver H., De Andrade M., Siegmund K., Thibodeau S. N., Boardman L. A., Seminara D., Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X Journal of the American Medical Association 2005 293 16 1979 1985
61. Jover R., Zapater P., Castells A., Llor X., Andreu M., Cubiella J., Balaguer F., Sempere L., Xicola R. M., Bujanda L., Re J. M., Clofent J., Bessa X., Morillas J. D., Nicols-Prez D., Pons E., Pay A., Alenda C., The efficacy of adjuvant chemotherapy with 5-fluorouracil in colorectal cancer depends on the mismatch repair status European Journal of Cancer 2009 45 3 365 373
62. 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) Diseases of the Colon and Rectum 1991 34 5 424 425
63. Gervaz P., Bucher P., Morel P., Two colons-two cancers: paradigm shift and clinical implications Journal of Surgical Oncology 2004 88 4 261 266
64. Vasen H. F. A., Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)] Familial Cancer 2005 4 3 219 225
65. Lynch H. T., de la Chapelle A., Genetic susceptibility to non-polyposis colorectal cancer Journal of Medical Genetics 1999 36 11 801 818
66. Voskuil D. W., Vasen H. F. A., Kampman E., van't Veer P., Colorectal cancer risk in HNPCC families: development during lifetime and in successive generations International Journal of Cancer 1997 72 2 205 209
67. Aarnio M., Sankila R., Pukkala E., Salovaara R., Aaltonen L. A., De La Chapelle A., Peltomki P., Mecklin J.-P., Jrvinen H. J., Cancer risk in mutation carriers of DNA-mismatch-repair genes International Journal of Cancer 1999 81 2 214 218
68. Fredriksson H., Ikonen T., Autio V., Matikainen M. P., Helin H. J., Tammela T. L. J., Koivisto P. A., Schleutker J., Identification of germline MLH1 alterations in familial prostate cancer European Journal of Cancer 2006 42 16 2802 2806
69. Lynch H. T., Lynch P. M., Lanspa S. J., Snyder C. L., Lynch J. F., Boland C. R., Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications Clinical Genetics 2009 76 1 1 18
70. Lin K. M., Shashidharan M., Thorson A. G., Ternent C. A., Blatchford G. J., Christensen M. A., Watson P., Lemon S. J., Franklin B., Karr B., Lynch J., Lynch H. T., Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer Journal of Gastrointestinal Surgery 1998 2 1 67 71
71. Vasen H. F. A., Stormorken A., Menko F. H., Nagengast F. M., Kleibeuker J. H., Griffioen G., Taal B. G., Moller P., Wijnen J. T., MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families Journal of Clinical Oncology 2001 19 20 4074 4080
72. Hampel H., Stephens J. A., Pukkala E., Sankila R., Aaltonen L. A., Mecklin J.-P., De La Chapelle A., Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset Gastroenterology 2005 129 2 415 421 (Pubitemid 41096629)
73. Quehenberger F., Vasen H. F. A., van Houwelingen H. C., Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment Journal of Medical Genetics 2005 42 6 491 496
74. Carayol J., Khlat M., Maccario J., Bonati-Pelli C., Hereditary non-polyposis colorectal cancer: current risks of colorectal cancer largely overestimated Journal of Medical Genetics 2002 39 5 335 339
75. Plaschke J., Engel C., Kruger S., Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome Journal of Clinical Oncology 2004 22 4486 4494
76. Barrow E., Robinson L., Alduaij W., Shenton A., Clancy T., Lalloo F., Hill J., Evans D. G., Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations Clinical Genetics 2009 75 2 141 149
77. Lynch H. T., Smyrk T., Jass J. R., Hereditary nonpolyposis colorectal cancer and colonic adenomas: aggressive adenomas? Seminars in Surgical Oncology 1995 11 6 406 410
78. Mecklin J., Aarnio M., Lr E., Kairaluoma M. V., Pylvninen K., Peltomki P., Aaltonen L. A., Jrvinen H. J., Development of colorectal tumors in colonoscopic surveillance in Lynch syndrome Gastroenterology 2007 133 4 1093 1098
79. Rijcken F. E. M., Hollema H., Kleibeuker J. H., Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation Gut 2002 50 3 382 386
80. Watanabe T., Muto T., Sawada T., Miyaki M., Flat adenoma as a precursor of colorectal carcinoma in hereditary nonpolyposis colorectal carcinoma Cancer 1996 77 4 627 634
81. Lynch H. T., Smyrk T., McGinn T., Lanspa S., Cavalieri J., Lynch J., Slominski- Castor S., Cayouette M. C., Priluck I., Luce M. C., Attenuated familial adenomatous polyposis (AFAP): a phenotypically and genotypically distinctive variant of FAP Cancer 1995 76 12 2427 2433
82. Cao Y., Pieretti M., Marshall J., Khattar N. H., Chen B., Kam-Morgan L., Lynch H., Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature American Journal of Gastroenterology 2002 97 7 1822 1827
83. de Jong A. E., Morreau H., van Puijenbroek M., Eilers P. H. C., Wijnen J., Nagengast F. M., Griffioen G., Cats A., Menko F. H., Kleibeuker J. H., Vasen H. F. A., The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC Gastroenterology 2004 126 1 42 48
84. Giuffr G., Mller A., Brodegger T., Bocker-Edmonston T., Gebert J., Kloor M., Dietmaier W., Kullmann F., Bttner R., Tuccari G., Rschoff J., Brasch F., Epplen J. T., Hahn S., Kunstmann E., Pox C., Willert J., Pagenstecher C., Friedl W., Lauschke H., Hirner A., Lamberti C., Propping P., Sauerbuch T., Mslein G., Aust D. E., Balck F., Hhl R., Kreuz F. R., Krger S., Pistorius S. R., Plaschke J., Kienle P., Knaebel H.-P., Tariverdian M., Mazitscheck U., Cremer F., Keller M., von Knebel-Doeberitz M., Gross M., Kopp R., Lohse P., Muders M., Mller-Koch Y., Vogelsang H., Heinmller E., Forberg J., Herold M., Lffler M., Microsatellite analysis of hereditary nonpolyposis colorectal cancer-associated colorectal adenomas by laser-assisted microdissection: correlation with mismatch repair protein expression provides new insights in early steps of tumorigenesis Journal of Molecular Diagnostics 2005 7 2 160 170
85. Halvarsson B., Lindblom A., Johansson L., Lagerstedt K., Nilbert M., Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer Modern Pathology 2005 18 8 1095 1101
86. Iino H., Simms L., Young J., Arnold J., Winship I. M., Webb S. I., Furlong K. L., Leggett B., Jass J. R., DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer Gut 2000 47 1 37 42
87. Mller A., Beckmann C., Westphal G., Bocker Edmonston T., Friedrichs N., Dietmaier W., Brasch F. E., Kloor M., Poremba C., Keller G., Aust D. E., Fa J., Bttner R., Becker H., Rschoff J., Prevalence of the mismatch-repair-deficient phenotype in colonic adenomas arising in HNPCC patients: results of a 5-year follow-up study International Journal of Colorectal Disease 2006 21 7 632 641
88. Pino M. S., Mino-Kenudson M., Wildemore B. M., Ganguly A., Batten J., Sperduti I., Iafrate A. J., Chung D. C., Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas Journal of Molecular Diagnostics 2009 11 3 238 247
89. Jass J. R., Stewart S. M., Evolution of hereditary non-polyposis colorectal cancer Gut 1992 33 6 783 786
90. Jrvinen H. J., Aarnio M., Mustonen H., AktanCollan K., Aaltonen L. A., Peltomki P., Chapelle A. D. L., Mecklin J., Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer Gastroenterology 2000 118 5 829 834
91. Johnson P. M., Gallinger S., McLeod R. S., Surveillance colonoscopy in individuals at risk for hereditary nonpolyposis colorectal cancer: an evidence-based review Diseases of the Colon and Rectum 2006 49 1 80 93 (Pubitemid 41830659)
92. Lindgren G., Liljegren A., Jaramillo E., Rubio C., Lindblom A., Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer Gut 2002 50 2 228 234
93. Lindor N. M., Petersen G. M., Hadley D. W., Kinney A. Y., Miesfeldt S., Lu K. H., Lynch P., Burke W., Press N., Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review Journal of the American Medical Association 2006 296 12 1507 1517
94. Kloor M., Becker C., Benner A., Woerner S. M., Gebert J., Ferrone S., Von Knebel Doeberitz M., Immunoselective pressure and human leukocyte antigen class I antigen machinery defects in microsatellite unstable colorectal cancers Cancer Research 2005 65 14 6418 6424
95. Vasen H. F. A., Taal B. G., Nagengast F. M., Griffioen G., Menko F. K., Kleibeuker J. H., Offerhaus G. J. A., Meera Khan P., Hereditary nonpolyposis colorectal cancer: results of long-term surveillance in 50 families European Journal of Cancer A 1995 31 7-8 1145 1148
96. Lanspa S. J., Jenkins J. X., Cavalieri R. J., Smyrk T. C., Watson P., Lynch J., Lynch H. T., Surveillance in Lynch syndrome: how aggressive? American Journal of Gastroenterology 1994 89 11 1978 1980
97. Jrvinen H. J., Mecklin J.-P., Sistonen P., Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer Gastroenterology 1995 108 5 1405 1411
98. Muto T., Bussey H. J. R., Morson B. C., The evolution of cancer of the colon and rectum Cancer 1975 36 6 2251 2270
99. Gryfe R., Kim H., Hsieh E. T. K., Aronson M. D., Holowaty E. J., Bull S. B., Redston M., Gallinger S., Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer New England Journal of Medicine 2000 342 2 69 77
100. Stigliano V., Assisi D., Cosimelli M., Palmirotta R., Giannarelli D., Mottolese M., Mete L. S., Mancini R., Casale V., Survival of hereditary non-polyposis colorectal cancer patients compared with sporadic colorectal cancer patients Journal of Experimental and Clinical Cancer Research 2008 27 1, article 39
101. Kets C. M., Hoogerbrugge N., Bodmer D., Willems R., Brunner H. G., Van Krieken J. H. J. M., Ligtenberg M. J. L., Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instability Modern Pathology 2006 19 12 1624 1630
102. Waldner M., Schimanski C. C., Neurath M. F., Colon cancer and the immune system: the role of tumor invading T cells World Journal of Gastroenterology 2006 12 45 7233 7238
103. Numasaki M., Fukushi J.-I., Ono M., Narula S. K., Zavodny P. J., Kudo T., Robbins P. D., Tahara H., Lotze M. T., Interleukin-17 promotes angiogenesis and tumor growth Blood 2003 101 7 2620 2627
104. Tartour E., Fossiez F., Joyeux I., Galinha A., Gey A., Claret E., Sastre-Garau X., Couturier J., Mosseri V., Vives V., Banchereau J., Fridman W. H., Wijdenes J., Lebecque S., Sauts-Fridman C., Interleukin 17, a T-cell-derived cytokine, promotes tumorigenicity of human cervical tumors in nude mice Cancer Research 1999 59 15 3698 3704
105. Loddenkemper C., Schernus M., Noutsias M., Stein H., Thiel E., Nagorsen D., In situ analysis of FOXP3+ regulatory T cells in human colorectal cancer Journal of Translational Medicine 2006 4 52 59
106. Polydorides A. D., Mukherjee B., Gruber S. B., McKenna B. J., Appelman H. D., Greenson J. K., Adenoma-infiltrating lymphocytes (AILs) are a potential marker of hereditary nonpolyposis colorectal cancer The American journal of Surgical Pathology 2008 32 11 1661 1666
107. 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 6443 274 276
108. Shibata D., Peinado M. A., Ionov Y., Malkhosyan S., Perucho M., Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation Nature Genetics 1994 6 3 273 281
109. Bhattacharyya N. P., Skandalis A., Ganesh A., Groden J., Meuth M., Mutator phenotypes in human colorectal carcinoma cell lines Proceedings of the National Academy of Sciences of the United States of America 1994 91 14 6319 6323
110. Parsons R., Li G.-M., Longley M. J., Fang W.-H., Papadopoulos N., Jen J., De la Chapelle A., Kinzler K. W., Vogelstein B., Modrich P., Hypermutability and mismatch repair deficiency in RER+ tumor cells Cell 1993 75 6 1227 1236
111. Akiyama Y., Sato H., Yamada T., Nagasaki H., Tsuchiya A., Abe R., Yuasa Y., Germ-line mutation of the hmSH6/GTPB gene in an atypical hereditary nonpolyposis colerectal cancer kindred Cancer Research 1997 57 18 3920 3923
112. Bronner C. E., Baker S. M., Morrison P. T., Warren G., Smith L. G., Lescoe M. K., Kane M., Earabino C., Lipford J., Lindblom A., Tannergard P., Bollag R. J., Godwin A. R., Ward D. C., Nordenskjold M., Fishel R., Kolodner R., Liskay R. M., Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer Nature 1994 368 6468 258 261
113. Leach F. S., Nicolaides N. C., Papadopoulos N., Liu B., Jen J., Parsons R., Peltomaki P., Sistonen P., Aaltonen L. A., Nystrom-Lahti M., Guan X.-Y., Zhang J., Meltzer P. S., Yu J.-W., Kao F.-T., Chen D. J., Cerosaletti K. M., Fournier R. E. K., Todd S., Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer Cell 1993 75 6 1215 1225
114. Miyaki M., Konishi M., Tanaka K., Kikuchi-Yanoshita R., Muraoka M., Yasuno M., Igari T., Koike M., Chiba M., Mori T., Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer Nature Genetics 1997 17 3 271 272
115. Nicolaldes N. C., Papadopoulos N., Liu B., Wel Y.-F., Carter K. C., Ruben S. M., Rosen C. A., Haseltine W. A., Fleischmann R. D., Fraser C. M., Adams M. D., Venter J. C., Dunlop M. G., Hamilton S. R., Petersen G. M., De La Chapelle A., Vogelstein B., Klnzler K. W., Mutations of two PMS homologues in hereditary nonpolyposis colon cancer Nature 1994 371 6492 75 80 (Pubitemid 24277467)
116. Papadopoulos N., Nicolaides N. C., Wei Y.-F., Ruben S. M., Carter K. C., Rosen C. A., Haseltine W. A., Fleischmann R. D., Fraser C. M., Adams M. D., Venter J. C., Hamilton S. R., Petersen G. M., Watson P., Lynch H. T., Peltomaki P., Mecklin J.-P., De la Chapelle A., Kinzler K. W., Vogelstein B., Mutation of a mutL homolog in hereditary colon cancer Science 1994 263 5153 1625 1629
117. Akiyama Y., Tsubouchi N., Yuasa Y., Frequent somatic mutations of hMSH3 with reference to microsatellite instability in hereditary nonpolyposis colorectal cancers Biochemical and Biophysical Research Communications 1997 236 2 248 252
118. Lipkin S. M., Wang V., Jacoby R., Banerjee-Basu S., Baxevanis A. D., Lynch H. T., Elliott R. M., Collins F. S., MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability Nature Genetics 2000 24 1 27 35
119. Kunkel T. A., Erie D. A., DNA mismatch repair Annual Review of Biochemistry 2005 74 681 710
120. Jascur T., Boland C. R., Structure and function of the components of the human DNA mismatch repair system International Journal of Cancer 2006 119 9 2030 2035
121. Pal T., Permuth-Wey J., Sellers T. A., A review of the clinical relevance of mismatch-repair deficiency in ovarian cancer Cancer 2008 113 4 733 742
122. Duval A., Hamelin R., Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instability Cancer Research 2002 62 9 2447 2454
123. Peltomaki P., Vasen H. F. A., Bisgaard M.-L., Buerstedde J.-M., Friedl W., Grandjouan S., Hutter P., Kohonen-Corish M., Kolodner R., Kurzawski G., Lindblom A., Lynch H. T., Piepoli A., De Leon M. P., Radice P., Thibodeau S., Weber W., West S., Wijnen J., Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study Gastroenterology 1997 113 4 1146 1158
124. Huang J., Kuismanen S. A., Liu T., Chadwick R. B., Johnson C. K., Stevens M. W., Richards S. K., Meek J. E., Gao X., Wright F. A., Mecklin J.-P., Jrvinen H. J., Grnberg H., Bisgaard M. L., Lindblom A., Peltomki P., MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer Cancer Research 2001 61 4 1619 1623
125. de Jong A. E., van Puijenbroek M., Hendriks Y., Tops C., Wijnen J., Ausems M. G. E. M., Meijers-Heijboer H., Wagner A., Van Os T. A. M., Brcker-Vriends A. H. J. T., Vasen H. F. A., Morreau H., Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer Clinical Cancer Research 2004 10 3 972 980
126. Halvarsson B., Lindblom A., Rambech E., Lagerstedt K., Nilbert M., The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer Familial Cancer 2006 5 4 353 358
127. Hendriks Y. M. C., Jagmohan-Changur S., van der Klift H. M., Morreau H., Van Puijenbroek M., Tops C., Van Os T., Wagner A., Ausems M. G. F. M., Gomez E., Breuning M. H., Brcker-Vriends A. H. J. T., Vasen H. F. A., Wijnen J. TH., Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome) Gastroenterology 2006 130 2 312 322
128. Ignatowicz L., Kappler J., Marrack P., The repertoire of T cells shaped by a single MHC/peptide ligand Cell 1996 84 4 521 529
129. Nossal G. J. V., Negative selection of lymphocytes Cell 1994 76 2 229 239
130. Kappler J. W., Roehm N., Marrack P., T cell tolerance by clonal elimination in the thymus Cell 1987 49 2 273 280
131. Pisarchik A. V., Kartel N. A., Simple repetitive sequences and gene expression Molecular Biology 2000 34 3 303 307
132. Mori Y., Yin J., Rashid A., Leggett B. A., Young J., Simms L., Kuehl P. M., Langenberg P., Meltzer S. J., Stine O. C., Instabilotyping: comprehensive identification of frameshift mutations caused by coding region microsatellite instability Cancer Research 2001 61 16 6046 6049
133. Boland C. R., Thibodeau S. N., Hamilton S. R., Sidransky D., Eshleman J. R., Burt R. W., Meltzer S. J., Rodriguez-Bigas M. A., Fodde R., Ranzani G. N., Srivastava S., A 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 Research 1998 58 22 5248 5257
134. Linnebacher M., Gebert J., Rudy W., Woerner S., Yuan Y. P., Bork P., Von Doeberitz M. K., Frameshift peptide-derived T-cell epitopes: a source of novel tumor-specific antigens International Journal of Cancer 2001 93 1 6 11
135. Woerner S. M., Gebert J., Yuan Y. P., Sutter C., Ridder R., Bork P., Von Doeberitz M. K., Systematic identification of genes with coding microsatellites mutated in DNA mismatch repair-deficient cancer cells International Journal of Cancer 2001 93 1 12 19
136. Sterdal I., Bjrheim J., Lislerud K., Gjertsen M. K., Bukholm I. K., Olsen O. C., Nesland J. M., Eriksen J. A., Mller M., Lindblom A., Gaudernack G., Frameshift-mutation-derived peptides as tumor-specific antigens in inherited and spontaneous colorectal cancer Proceedings of the National Academy of Sciences of the United States of America 2001 98 23 13255 13260
137. Schwitalle Y., Kloor M., Eiermann S., Linnebacher M., Kienle P., Knaebel H. P., Tariverdian M., Benner A., von Knebel Doeberitz M., Immune response against frameshift-induced neopeptides in HNPCC patients and healthy HNPCC mutation carriers Gastroenterology 2008 134 4 988 997
138. Kloor M., Michel S., Buckowitz B., Rschoff J., Bttner R., Holinski-Feder E., Dippold W., Wagner R., Tariverdian M., Benner A., Schwitalle Y., Kuchenbuch B., Doeberitz M. V. K., 2 -microglobulin mutations in microsatellite unstable colorectal tumors International Journal of Cancer 2007 121 2 454 458
139. Bicknell D. C., Kaklamanis L., Hampson R., Bodmer W. F., Karran P., Selection for 2 -microglobulin mutation in mismatch repair-defective colorectal carcinomas Current Biology 1996 6 12 1695 1697
140. Cabrera C. M., Jimnez P., Cabrera T., Esparza C., Ruiz-Cabello F., Garrido F., Total loss of MHC class I in colorectal tumors can be explained by two molecular pathways: 2 -microglobulin inactivation in MSI-positive tumors and LMP7/TAP2 downregulation in MSI-negative tumors Tissue Antigens 2003 61 3 211 219
141. Ferris R. L., Whiteside T. L., Ferrone S., Immune escape associated with functional defects in antigen-processing machinery in head and neck cancer Clinical Cancer Research 2006 12 13 3890 3895
142. Seliger B., Atkins D., Bock M., Ritz U., Ferrone S., Huber C., Strkel S., Characterization of human lymphocyte antigen class I antigen-processing machinery defects in renal cell carcinoma lesions with special emphasis on transporter-associated with antigen-processing down-regulation Clinical Cancer Research 2003 9 5 1721 1727
143. Dierssen J. W. F., de Miranda N. F. C. C., Ferrone S., van Puijenbroek M., Cornelisse C. J., Fleuren G. J., van Wezel T., Morreau H., HNPCC versus sporadic microsatellite-unstable colon cancers follow different routes toward loss of HLA class I expression BMC Cancer 2007 7 32 43
144. Ribic C. M., Sargent D. J., Moore M. J., Thibodeau S. N., French A. J., Goldberg R. M., Hamilton S. R., Laurent-Puig P., Gryfe R., Shepherd L. E., Tu D., Redston M., Gallinger S., Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer New England Journal of Medicine 2003 349 3 247 257
145. Roncucci L., Mora E., Mariani F., Bursi S., Pezzi A., Rossi G., Pedroni M., Luppi D., Santoro L., Monni S., Manenti A., Bertani A., Merighi A., Benatti P., Di Gregorio C., De Leon M. P., Myeloperoxidase-positive cell infiltration in colorectal carcinogenesis as indicator of colorectal cancer risk Cancer Epidemiology Biomarkers and Prevention 2008 17 9 2291 2297
146. Sinicrope F. A., Rego R. L., Garrity-Park M. M., Foster N. R., Sargent D. J., Goldberg R. M., Wiesenfeld M., Witzig T. E., Thibodeau S. N., Burgart L. J., Alterations in cell proliferation and apoptosis in colon cancers with microsatellite instability International Journal of Cancer 2007 120 6 1232 1238
147. O'Connell J., O'Sullivan G. C., Collins J. K., Shanahan F., The Fas counterattack: fas-mediated T cell killing by colon cancer expressing Fas ligand Journal of Experimental Medicine 1996 184 3 1075 1082
148. Koornstra J. J., de Jong S., Boersma-van Eck W., Zwart N., Hollema H., de Vries E. G. E., Kleibeuker J. H., Fas ligand expression in lynch syndrome-associated colorectal tumours Pathology and Oncology Research 2008 1 8
149. Vasen H. F. A., Mslein G., Alonso A., Aretz S., Bernstein I., Bertario L., Blanco I., Bulow S., Burn J., Capella G., Colas C., Engel C., Frayling I., Rahner N., Hes F. J., Hodgson S., Mecklin J.-P., Mller P., Myrhj T., Nagengast F. M., Parc Y., Ponz de Leon M., Renkonen-Sinisalo L., Sampson J. R., Stormorken A., Tejpar S., Thomas H. J.W., Wijnen J., Lubinski J., Jrvinen H., Claes E., Heinimann K., Karagiannis J. A., Lindblom A., Dove-Edwin I., Mller H., Recommendations to improve identification of hereditary and familial colorectal cancer in Europe Familial Cancer 2009 9 2 109 115
150. Zighelboim I., Powell M. A., Babb S. A., Whelan A. J., Schmidt A. P., Clendenning M., Senter L., Thibodeau S. N., De La Chapelle A., Goodfellow P. J., Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome Familial Cancer 2009 8 4 501 504
151. Zhang L., Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: part II. The utility of microsatellite instability testing Journal of Molecular Diagnostics 2008 10 4 301 307
152. Shia J., Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: part I. The utility of immunohistochemistry Journal of Molecular Diagnostics 2008 10 4 293 300
153. Wijnen J. T., Brohet R. M., van Eijk R., Jagmohan-Changur S., Middeldorp A., Tops C. M., van Puijenbroek M., Ausems M. G. E. M., Gmez Garca E., Hes F. J., Hoogerbrugge N., Menko F. H., van Os T. A. M., Sijmons R. H., Verhoef S., Wagner A., Nagengast F. M., Kleibeuker J. H., Devilee P., Morreau H., Goldgar D., Tomlinson I. P., Houlston R. S., van Wezel T., Vasen H. F. A., Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome Gastroenterology 2009 136 1 131 137
154. Banerjea A., Ahmed S., Hands R. E., Huang F., Han X., Shaw P. M., Feakins R., Bustin S. A., Dorudi S., Colorectal cancers with microsatellite instability display mRNA expression signatures characteristic of increased immunogenicity Molecular Cancer 2004 3 21 32