Hereditary nonpolyposis colorectal cancer (HNPCC)

Cytogenetics and Cell Genetics

Volumn 86, Issue 2, 1999, Pages 130-135

  Lynch, Henry T ^a  

^a CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BASE MISPAIRING; CANCER CHEMOTHERAPY; CANCER GENETICS; CANCER RISK; CANCER SURVIVAL; COLON CARCINOGENESIS; COLORECTAL CANCER; DNA REPAIR; FAMILIAL CANCER; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN CELL; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 0032849832     PISSN: 03010171     EISSN: None     Source Type: Journal    
DOI: 10.1159/000015365     Document Type: Review

References (69)

1. Aaltonen LA, Peltomaki P, Leach FS, Sistonen P, Pylkkanen L, Mecklin J-P, Jarvinen H, Powell SM, Jen J, Hamilton SR, Petersen GM, Kinzler KW, Vogelstein B, de la Chapelle A: Clues to the pathogenesis of familial colorectal cancer. Science 260:12-816 (1993).
2. Abusamra H, Maximova S, Bar-Meir S, Krispin M, Rotmensch HH: Cancer family syndrome of Lynch. Am J Med 83:981-983 (1987).
3. Akiyama Y, Sato H, Yamada T, Nagasaki H, Tsuchiya A, Abe R, Yuasa Y: Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary non-polyposis colorectal cancer kindred. Cancer Res 57:3920-3923 (1997).
4. Albano WA, Recabaren JA, Lynch HT, Campbell AS, Mailliard JA, Organ CH, Lynch JF, Kimberling WJ: Natural history of hereditary cancer of the breast and colon. Cancer 50:360-363 (1982).
5. 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 84:233-237 (1997).
6. Boland CR: International Workshop on Microsatellite Instability and RER Phenotypes in Cancer Detection and Familial Predisposition Meeting (National Cancer Institute, Bethesda 1997).
7. Boland CR, Troncale FJ: Familial colonic cancer without antecedent polyposis. Ann intern Med 100:700-701 (1984).
8. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A, Tannergard P, Bollag RJ, Godwin AR, Ward DC, Nordenskjold M, Fishel R, Kolodner R, Liskay RM: Mutation in the DNA mismatch repair gene homolog hMLH1 is associated with hereditary nonpolyposis colon cancer. Nature 368:258-261 (1994).
9. Church JM: Prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer. Ann Med 28:479-482 (1996).
10. Cristofaro G, Lynch HT, Caruso ML, Attolini A, Di-Matteo G, Giorgio P, Senatore S, Argentieri A, Sbano E, Guanti G, Fusaro R, Giorgio I: New phenotypic aspects in a family with Lynch syndrome. II. Cancer 60:51-58 (1987).
11. Dunlop MG, Farrington SM, Carothers AD, Wyllie AH, Sharp L, Burn J, Liu B, Kinzler KW, Vogelstein B: Cancer risk associated with germline DNA mismatch repair gene mutations. Hum molec Genet 6:105-110 (1997).
12. Elder DJE, Paraskeva C: NSAIDs to prevent colorectal cancer: a question of sensitivity. Gastroenterology 113:1999-2003 (1997).
13. Fink D, Aebi S, Howell SB: The role of DNA mismatch repair in drug resistance. Clin Cancer Res 4:1-6 (1998).
14. Fishel R, Lescoe MK, Rao MRS, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R: The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75:1027-1038 (1993).
15. Hall NR, Murday VA, Chapman P, Williams MAT, Burn J, Finan PJ, Bishop DT: Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome. Eur J Cancer 30A:180-182 (1994).
16. Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, Krush AJ, Berk T, Cohen Z, Tetu B, Burger PC, Wood PA, Taqi F, Booker SV, Petersen GM, Offerhaus GJA, Tersmette AC, Giardiello FM, Vogelstein B, Kinzler KW: The molecular basis of Turcot's syndrome. N Engl J Med 332:839-847 (1995).
17. Ionov YM, Peinado MA, Malkhosyan S, Shibata D, Perucho M: Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363:558-561 (1993).
18. Itoh H, Houlston RS, Harocopos C, Slack: J Risk of cancer death in first-degree relatives of patients with hereditary nonpolyposis cancer syndrome (Lynch Type II): a study of 130 kindreds in the United Kingdom. Br J Surg 77:1367-1370 (1990).
19. Jass JR: Colorectal adenoma progression and genetic change: is there a link? Ann Med 27:301-306 (1995).
20. Jass JR: Familial cancer: histopathological perspectives. J clin Pathol 50:892-895 (1997).
21. Jass JR, Cottier DS, Pokos V, Parry S, Winship IM: Mixed epithelial polyps in association with hereditary non-polyposis colorectal cancer providing an alternative pathway of cancer histogenesis. Pathology 29:28-33 (1997).
22. Jass JR, Stewart SM, Schroeder D, Lane MR: Screening for hereditary nonpolyposis colorectal cancer in New Zealand. Eur J Gastroenterol Hepatol 4:523-527 (1992).
23. Landis SH, Murray T, Bolden S, Wingo PA: Cancer statistics, 1998. CA Cancer J Clin 48:6-29 (1998).
24. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystrom-Lahti M, Guan X-Y, Zhang J, Metzler PS, Yu J-W, Kao F-T, Chen DJ, Cerosaletti KM, Foumier REK, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin J-P, Jarvinen H, Petersen GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, de la Chapelle A, Kinzler KW, Vogelstein B: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75:1215-1225 (1993).
25. Lin KM, Shashidharan M, Ternent CA, Thorson AG, Blatchford GJ, Christensen MA, Lanspa SJ, Lemon SJ, Watson P, Lynch HT: Colorectal and extracolonic cancer variations in MLH1/MSH2 hereditary nonpolyposis colorectal cancer kindreds and the general population. Dis Colon Rectum 41:428-433 (1998).
26. Lindblom A, Tannergard P, Werelius B, Nordenskjold M: Genetic mapping of a second locus predisposing to hereditary nonpolyposis colorectal cancer. Nature Genet 5:279-282 (1993).
27. Liu B, Farrington SM, Petersen GM, Hamilton SR, Parsons R, Papadopoulos N, Fujiwara T, Jen J, Kinzler KW, Wyllie AH, Vogelstein B, Dunlop MG: Genetic instability occurs in the majority of young patients with colorectal cancer. Nature Med 1:348-352 (1995a).
28. Liu B, Nicolaides NC, Markowitz S, Willson JKV, Parsons RE, Jen J, Papadopolous N, Peltomaki P, de la Chapelle A, Hamilton SR, Kinzler KW, Vogelstein B: Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nature Genet 9:48-55 (1995b).
29. Liu B, Parsons R, Papadopoulos N, Nicolaides NC, Lynch HT, Watson P, Jass JR, Dunlop M, Wyllie A, Peltomaki P, de la Chapelle A, Hamilton SR, Vogelstein B, Kinzler KW: Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nature Med 2:169-174 (1996).
30. Lynch HT: Is there a role for prophylactic subtotal colectomy among hereditary nonpolyposis colorectal cancer germline mutation carriers? Dis Colon Rectum 39:109-110 (1996).
31. Lynch HT, Albano W, Recabaren J, Lynch PM, Lynch JF, Elston R: Prolonged survival as a component of hereditary breast and nonpolyposis colon cancer. Med Hypoth 7:1201-1209 (1981).
32. Lynch HT, Cavalieri RJ, Lynch JF, Casey MJ: Gynecologic cancer clues to Lynch syndrome II diagnosis: a family report. Gynecol Oncol 44:198-203 (1992).
33. Lynch HT, Fusaro RM: Muir-Torre syndrome: heterogeneity, natural history, diagnosis, and management. Prob gen Surg 10:1-14 (1993).
34. Lynch HT, Fusaro RM, Lemon SJ, Smyrk T, Lynch J: Survey of cancer genetics: genetic testing implications. Cancer 80(Suppl):523-532 (1997).
35. 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 113:295-301 (1985).
36. Lynch HT, Krush AJ: Cancer family "G" revisited: 1895-1970. Cancer 27:1505-1511 (1971).
37. Lynch HT, Lynch PM, Pester J, Fusaro RM: The cancer family syndrome: rare cutaneous phenotypic linkage of Torre's syndrome. Arch intern Med 141:607-611 (1981).
38. Lynch HT, Lynch PM, Pester JA, Fusaro RM: Sebaceous neoplasia and visceral cancer (Torre's syndrome) and its relationship to the cancer family syndrome, in Lynch HT, Fusaro RM (eds): Cancer-associated Genodermatoses, pp 366-393 (Van Nostrand Reinhold, New York 1982).
39. Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ: Hereditary factors in cancer: study of two large midwestern kindreds. Arch intern Med 117:206-212 (1966).
40. Lynch HT, Smyrk T: Hereditary nonpolyposis colorectal cancer (Lynch syndrome): an updated review. Cancer 78:1149-1167 (1996).
41. Lynch HT, Smyrk T, Lynch J: An update of HNPCC (Lynch syndrome). Cancer Genet Cytogenet 93:84-99 (1997).
42. Mecklin JP: Frequency of hereditary colorectal carcinoma. Gastroenterology 93:1021-1025 (1987).
43. Mecklin J-P, Jarvinen HJ, Peltokallio P: Cancer family syndrome: genetic analysis of 22 Finnish kindreds. Gastroenterology 30:328-333 (1986).
44. Muir EG, Bell AJ, Barlow KA: Multiple primary carcinomata of the colon duodenum and larynx associated with keratoacanthomata of the face. Br J Surg 54:191-195 (1966).
45. Myrhoj T, Bisgaard ML, Bernstein I, Svendsen LB, Sondergaard JO, Bülow S: Hereditary non-polyposis colorectal cancer: clinical features and survival: results from the Danish HNPCC Register. Scand J Gastroenterol 32:572-576 (1997).
46. Nicolaides NC, Papadopoulos N, Liu B, Wei Y-F, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Dunlop MG, Hamilton SR, Petersen GM, de la Chapelle A, Vogelstein B, Kinzler KW: Mutations of two PMS homologs in hereditary nonpolyposis colon cancer. Nature 371:75-80 (1994).
47. Palombo F, Gillinari P, Iaccarino I, Lettieri T, Hughes M, D'Arrigo A, Truong O, Hsuan JJ, Jiricny J: GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science 268:1912-1914 (1995).
48. Papadopoulos N, Nicolaides NC, Wei Y-F, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleishmann RD, Fraser CM, Adams MD, Venter JC, Hamilton SR, Petersen M, Watson P, Lynch HT, Peltomäki P, Mecklin JP, de la Chapelle A, Kinzler KW, Vogelstein B: Mutation of a mutL homolog in hereditary colon cancer. Science 263:1625-1629 (1994).
49. Peltomäki P, Aaltonen L, Sistonen P, Pylkkanen L, Mecklin J-P, Jarvinen H, Green JS, Jass JR, Weber JL, Leach FS, Petersen GM, Hamilton SR, de la Chapelle A, Vogelstein B: Genetic mapping of a locus predisposing to human colorectal cancer. Science 260:810-812 (1993a).
50. Peltomäki P, Lothe RA, Aaltonen LA, Pylkkanen L, Nystrom-Lahti M, Seruca R, David L, Holm R, Ryberg D, Haugen A, Brogger A, Borresen A-L, de la Chapelle A: Microsatellite instability is associated with tumors that characterize the hereditary nonpolyposis colorectal carcinoma syndrome. Cancer Res 53:5853-5855 (1993b).
51. Ponz de Leon M, Sassatelli R, Sacchetti C, Zanghieri G, Scalmati A, Roncucci L: Familial aggregation of tumors in the three year experience of a population-based colorectal cancer registry. Cancer Res 49:4344-4348 (1989).
52. Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, Lynch H, Perucho M, Smyrk T, Sobin L, Srivastava S: A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J natl Cancer Inst 89:1758-1762 (1997a).
53. Rodriguez-Bigas MA, Vasen HFA, Pekka-Mecklin J, Myrhoj T, Rozen P, Bertario L, Järvinen HJ, Jass JR, Kunitomo K, Nomizu T, Driscoll DL, and the International Collaborative Group on HNPCC: Rectal cancer risk in hereditary nonpolyposis colorectal cancer after abdominal colectomy. Ann Surg 225:202-207 (1997b).
54. Sankila R, Aaltonen LA, Jarvinen HJ, Mecklin J-P: Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology 110:682-687 (1996).
55. Sheng GG, Shao J, Sheng H, Hooton EB, Isakson PC, Morrow JD, Coffey Jr RJ, DuBois RN, Beauchamp RD: A selective cyclooxygenase 2 inhibitor suppresses the growth of H-ras-transformed rat intestinal epithelial cells. Gastroenterology 113: 1883-1891 (1997).
56. Strand M, Prolla TA, Liskay RM, Petes TD: Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365:274-276 (1993).
57. Thibodeau SN, Bren G, Schaid D: Microsatellite instability in cancer of the proximal colon. Science 260:816-819 (1993).
58. Tomlinson IPM, Beck NE, Homfray T, Harocopos CJ, Bodmer WF: Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. J med Genet 34 39-42 (1997).
59. Torre D: Multiple sebaceous tumors. Arch Dermatol 98:549-551 (1968).
60. Vasen HF, Hartog Jager FCA, Menko FH, Nagengast FM: Screening for hereditary nonpolyposis colorectal cancer: a study of 22 kindreds in the Netherlands. Am J Med 86:278-281 (1989).
61. Vasen HFA, Wijnen JT, Menko FH, Kleibeuker JH, Taal BG, Griffioen G, Nagengast FM, Meijers-Heijboer EH, Bertario L, Varesco L, Bisgaard M-L, Mohr J, Fodde R, Khan PM: Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 110:1020-1027 (1996).
62. Viel A, Genuardi M, Capozzi E, Bellacosa A, Paravatou-Petsotas M, Pomponi MG, Fornasarig M, Percesepe A, Roncucci L, Tamassia MG, Benatti P, De Leon MP, Valenti A, Covino M, Anti M, Foletto M, Boiocchi M, Neri G: Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. Genes Chrom Cancer 18:8-18 (1997).
63. Warthin AS: Heredity with reference to carcinoma. Archs intern Med 12:546-555 (1913).
64. Warthin AS: The further study of a cancer family. J Cancer Res 9:279-286 (1925).
65. Warthin AS: Heredity of carcinoma in man. Ann intern Med 4:681-696 (1931).
66. Watson P, Lin K, Rodriguez-Bigas MA, Smyrk T, Lemon S, Shashidharan M, Franklin B, Karr B, Lynch J, Thorson A, Lynch HT: Colorectal cancer survival in hereditary nonpolyposis colorectal cancer family members. Cancer 83:259-266 (1998).
67. Watson P, Lynch HT: Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71:677-685 (1993).
68. Winawer SJ, Retcher RH, Miller L, Godlee F, Stolar MH, Mulrow CD, Woolf SH, Glick SN, Ganiats TG, Bond JH, Rosen L, Zapka JG, Olsen SJ, Giardiello FM, Sisk JE, Van Antwerp R, Brown-Davis C, Marciniak DA, Mayer RJ: Colorectal cancer screening: clinical guidelines and rationale. Gastroenterology 112:594-642 (1997).
69. Zwick A, Munir M, Ryan CK, Gian J, Burl RW, Leppert M, Spirio L, Chey WY: Gastric adenocarcinoma and dysplasia in fundic gland polyps of a patient with attenuated adenomatous polyposis coli. Gastroenterology 113:659-663 (1997).