An update on Lynch syndrome

Current Opinion in Oncology

Volumn 10, Issue 4, 1998, Pages 349-356

  Lynch, Henry T ^a   Smyrk, Thomas ^b  

^a CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Clarkson Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOOXYGENASE 2 INHIBITOR; MICROSATELLITE DNA; NONSTEROID ANTIINFLAMMATORY AGENT;

ADENOMA; ARTICLE; BASE MISPAIRING; CANCER PREVENTION; CANCER SCREENING; CANCER SURVIVAL; CARCINOMA; COLON CARCINOGENESIS; COLON RESECTION; COLONOSCOPY; COLORECTAL CANCER; DNA REPAIR; FAMILIAL CANCER; GENE MUTATION; GENE THERAPY; GENETIC COUNSELING; GENETIC RISK; GENOTYPE; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALIGNANT TRANSFORMATION; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; SOMATIC MUTATION;

EID: 0031927034     PISSN: 10408746     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001622-199807000-00012     Document Type: Article

References (50)

1. Evans DGR, Walsh S, Jeacock J, Robinson C, Hadfield L, Davies DR. Kingston R: Incidence of hereditary nonpolyposis colorectal cancer in a population-based study of 1137 consecutive cases of colorectal cancer, Br J Surg 1997, 84:1281-1285.
2. Beck NE, Tomlinson IP, Homfray TF, Frayling IM, Hodgson SV, Bodmer WF: Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas. Gut 1997, 41:235-238.
3. Hodgson SV, Harocopos C, Gaglia P: Screening results in a family cancer clinic: five years experience. Anticancer Res 1993, 13:2581-2586.
4. Jass JR, Stewart SM: Evolution of hereditary non-polyposis colorectal cancer. Gut 1992, 33:783-786.
5. 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 1997, 34:39-42.
6. Liu B, Farrington SM, Petersen GM, Hamilton SR, Parsons R, Papadopoulos N, et al.: Genetic instability occurs in the majority of young patients with colorectal cancer. Nature Med 1995, 1:348-352.
7. Breivik J, Lothe RA, Meling GI, Rognum TO, Borresen-Dale A-L, Gaudernack G: Different genetic pathways to proximal and distal colorectal cancer influenced by sex-related factors. Int J Cancer (Pred Oncol) 1997, 74:664-669. Summarizes the arguments for two different classes of colon cancer. A lot of data, nicely presented (the bar graphs in Figure 2 take some study but do illustrate the data well).
8. Weber TK, Conlon W, Petrelli NJ, Rodriguez-Bigas M, Keitz B, Pazik J, et al.: Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees. Cancer Res 1997, 57:3798-3803.
9. Viel A, Genuardi M, Capozzi E, Bellacosa A, Paravatou-Petsotas M, Pomponi MG, et al.: Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. Genes Chromosom Cancer 1997, 18:8-18.
10. Wijnen J, Khan PM, Vasen H, van der Klift H, Mulder A. van Leeuwen-Cornelisse I, 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, 61:329-335.
11. 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, 74:281-285.
12. 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, 84:233-237.
13. Wang Q, Desseigne F, Lasset C, Saurin J-C, Navarro C, Yagci T, et al.: Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families. Int J Cancer 1997, 73:831-836.
14. Vasen HFA, Wijnen JT, Menko FH, Kleibeuker JH, Taal BG, Griffioen G, et al.: Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996, 110:1020-1027. An excellent paper of the kind we can expect more of in the era of molecular biology, ie. studies limited to known mutation carriers.
15. Lin KM, Shashidharan M, Ternent CA, Thorson AG, Blatchford GJ, et al.: Colorectal and extracolonic cancer variations in MLH1/MSH2 hereditary nonpolyposis colorectal cancer kindreds and the general population. Dis Colon Rectum 1998, in press.
16. 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, 61:129-138. Links a specific mutation to a distinct phenotype.
17. Peltomäki P, Vasen HFA, International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer: Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. Gastroenterology 1997, 113:1146-1158. An important paper for anyone with a serious interest in HNPCC. The most complete catalogue to date of mutations predisposing to HNPCC.
18. Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, et al.: Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 1997, 17:271-272.
19. 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 nonpolyposis colorectal cancer kindred. Cancer Res 1997, 57:3920-3923.
20. Vasen HFA, Sanders EACM, Taal BG, Nagengast FM, Griffioen G, Menko FH, et al.: The risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC). Int J Cancer 1997, 74:551-555.
21. Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, et al.: The molecular basis of Turcot's syndrome. N Engl J Med 1995, 332:839-847.
22. 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, 74:551-555.
23. Fearon ER: Human cancer syndromes: clues to the origin and nature of cancer. Science 1997, 278:1043-1050. Wide-ranging and up-to-the-minute review.
24. Dunlop MG, Farrington SM, Carothers AD, Wyllie AH, Sharp L, Burn J, et al.: Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 1997, 6:105-110.
25. Losi L, Ponz de Leon M, Jiricny J, di Gregorio C, Benatti P, Percesepe A, et al.: K-ras and p53 mutations in hereditary non-polyposis colorectal cancers. Int J Cancer (Pred Oncol) 1997, 74:94-96.
26. Akiyama Y, Iwanaga R, Saitoh K, Shiba K, Ushio K, Ikeda E, et al.: Transforming growth factor α type II receptor gene mutations in adenomas from hereditary nonpolyposis colorectal cancer. Gastroenterology 1997, 112:33-39.
27. Tannergard P, Liu T, Weger A, Nordenskjöld M, Lindblom A: Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer. Hum Genet 1997, 101:51-55.
28. Rampino N, Yamamoto H, Ionov Y, Li Y, Sawai H, Reed JC, Perucho M: Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Science 1997, 275:967-969. Another ground-breaking study from Perucho et al., who probably get less credit than they deserve for their role in breaking the microsatellite instability story. Concise review of BAX function and excellent discussion.
29. Yagi OK, Akiyama Y, Nomizu T, Iwama T, Endo M, Yuasa Y: Proapoptotic gene BAX is frequently mutated in hereditary nonpolyposis colorectal cancers but not in adenomas. Gastroenterology 1998, 114:268-274.
30. 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 1997, 29:28-33. A case report used to develop an intriguing hypothesis about cancer histogenesis in HNPCC.
31. Ruschoff J, Dietmaier W, Luttges J, Seitz G, Bocker T, Zimgibl H, et al.: Poorly differentiated colonic adenocarcinoma, medullary type. Am J Pathol 1997, 150:1815-1825.
32. Forster S, Sattler H-P, Hack M, Romanakis K, Ronde V, Seitz G, Wullich B: Microsatellite instability in sporadic carcinomas of the proximal colon: association with diploid DNA content, negative protein expression of p53, and distinct histomorphologic features. Surgery 1998, 123:13-18.
33. Smyrk TC, Lynch HT, Watson PA, Appelman HD: Histologic features of hereditary nonpolyposis colorectal carcinoma. In Hereditary Colorectal Cancer. Edited by Utsunomiya J, Lynch HT. Tokyo: Springer-Verlag: 1990:357-362.
34. Ropponen KM, Eskelinen MJ, Lipponen PK, Alhava E, Kosma V-M: Prognostic value of tumour-infiltrating lymphocytes (TILs) in colorectal cancer. J Pathol 1997, 182:318-324.
35. Krishna M, Burgart LJ, French AJ, Moon-Tasson L, Halling KC, Thibodeau SN: Histopathologic features associated with microsatellite instability in colorectal carcinomas [abstract]. Gastroenterology 1996, 110:A546.
36. Sankila R, Aaltonen LA, Jarvinen HJ, Mecklin J-P: Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology 1996, 110:682-687.
37. Watson P, Lin K, Rodriguez-Bigas MA, Smyrk T. Lemon S, Shashidharan M, et al.: Colorectal cancer survival in hereditary nonpolyposis colorectal cancer family members. Cancer 1998, in press.
38. Myrhoj T, Bisgaard ML, Bernstein I, Svendsen LB, Sondergaard JO, Bülow S: Hereditary non-polyposts colorectal cancer; clinical features and survival: results from the Danish HNPCC Register. Scand J Gastroenterol 1997, 32:572-576.
39. Percesepe A, Benatti P, Roncucci L, Sassatelli R, Fante R, Ganazzi D, et al.: Survival analysis in families affected by hereditary non-polyposis colorectal cancer. Int J Cancer 1997, 71:373-376.
40. Rodnguez-Bigas MA, Vasen HFA, Pekka-Mecklin J, Myrhoj T, Rozen P, Bertano L, Jäarvinen HJ, Jass JR, Kunitomo K, Nomizu T, Driscoll DL, International Collaborative Group on HNPCC: Rectal cancer risk in hereditary nonpolyposis colorectal cancer after abdominal colectomy. Ann Surg 1997, 225:202-207.
41. Fink D, Aebi S, Howell SB: The role of DNA mismatch repair in drug resistance. Clin Cancer Res 1998, 4:1-6. This review article provides a nice summary of the mechanisms of drug resistance.
42. Winawer SJ, Fletcher RH, Miller L, Godlee F, Stolar MH, Mulrow CD, et al.: Colorectal cancer screening: clinical guidelines and rationale. Gastroenterology 1997, 112:594-642.
43. Lynch HT, Fusaro RM, Lemon SJ, Smyrk T, Lynch J: Survey of cancer genetics: genetic testing implications. Cancer 1997, 80(suppl):523-532.
44. Geller G, Botkin JR, Green MJ, Press N, Biesecker BB, Wilfond B, et al.: Genetic testing for susceptibility to adult-onset cancer: the process and content of informed consent. JAMA 1997, 277:1467-1474.
45. Giardiello FM, Brensinger JD, Petersen GM, Luce MC, Hylind LM, Bacon JA, et al.: The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med 1997, 336:823-834. Enunciates the limitation of physician knowledge relevant to interpreting the significance of the APC germline mutation, as well as the need for informed consent and genetic counseling.
46. Elder DJE, Paraskeva C: NSAIDs to prevent colorectal cancer: a question of sensitivity. Gastroenterology 1997, 113:1999-2003.
47. Sheng GG, Shao J, Sheng H, Hooton EB, Isakson PC, Morrow JD, et al.: A selective cyclooxygenase 2 inhibitor suppresses the growth of H-ras-transformed rat intestinal epithelial cells. Gastroenterology 1997, 113:1883-1891.
48. Arber N, Han EK-H, Sgambato A, Piazza GA, Delohery TM, Begemann M, et al.: A K-ras oncogene increases resistance to sulindac-induced apoptosis in rat enterocytes. Gastroenterology 1997, 113:1892-1900.
49. D216 knockout mice by inhibition of cyclooxygenase 2 (COX-2). Cell 1996, 87:803-809.
50. Elder DJE, Halton DE, Hague A, Paraskeva C: Induction of apoptotic cell death in human colorectal carcinoma cell lines by a cyclooxygenase-2 (COX-2)-selective nonsteroidal anti-inflammatory drug: independence from COX-2 protein expression. Clin Cancer Res 1997, 3: 1679-1683.