Review article: The Lynch syndrome (hereditary nonpolyposis colorectal cancer)

Alimentary Pharmacology and Therapeutics

Volumn 26, Issue SUPPL. 2, 2007, Pages 113-126

  Vasen, H F A ^a,b  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Foundation for the Detection of Hereditary Tumours   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

FLUOROURACIL; MISMATCH REPAIR PROTEIN PMS2;

ADENOMA; AUTOSOMAL DOMINANT INHERITANCE; BRAIN TUMOR; CANCER CHEMOTHERAPY; CANCER RISK; CANCER SCREENING; CARCINOGENESIS; CARCINOMA; CHEMOPROPHYLAXIS; CLINICAL FEATURE; COLONOSCOPY; COLORECTAL CANCER; CONFERENCE PAPER; DIAGNOSTIC PROCEDURE; DISEASE SURVEILLANCE; DUODENUM CANCER; ENDOMETRIUM CANCER; ENVIRONMENTAL FACTOR; FAMILIAL CANCER; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC PREDISPOSITION; HETEROZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; INTESTINE CANCER; JEJUNUM CANCER; KIDNEY PELVIS CARCINOMA; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MOLECULAR GENETICS; MUIR TORRE SYNDROME; MULTIPLE CANCER; MUTATIONAL ANALYSIS; ONSET AGE; OVARY CANCER; PHENOTYPE; PRIORITY JOURNAL; SKIN TUMOR; STOMACH CANCER; SURGICAL APPROACH; URETER CANCER;

AGE OF ONSET; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; HUMANS; MICROSATELLITE INSTABILITY;

EID: 36849043572     PISSN: 02692813     EISSN: 13652036     Source Type: Journal    
DOI: 10.1111/j.1365-2036.2007.03479.x     Document Type: Conference Paper

References (69)

1. Lynch HT, Chapelle de la A. Hereditary colorectal cancer. N Engl J Med 2003 348 : 919 32.
2. Peltomaki P, Vasen H. Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 2004 20 : 269 76.
3. Harfe BD, Jinks-Robertson S. DNA mismatch repair and genetic instability. Annu Rev Genet 2000 34 : 359 99.
4. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005 352 : 1851 60.
5. Aaltonen LA, Salovaara R, Kristo P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998 338 : 1481 7.
6. Warthin AS. Heredity with reference to carcinoma. Arch Int Med 2006 12 : 546 55.
7. Lynch HT, Krush AJ. Cancer family "G" revisited: 1895-1970. Cancer 1971 27 : 1505 11.
8. Mecklin JP, Jarvinen HJ, Peltokallio P. Cancer family syndrome. Genetic analysis of 22 Finnish kindreds. Gastroenterology 1986 90 : 328 33.
9. Ponz dL, Sassatelli R, Sacchetti C, Zanghieri G, Scalmati A, Roncucci L. Familial aggregation of tumours in the three-year experience of a population-based colorectal cancer registry. Cancer Res 1989 49 : 4344 8.
10. Vasen HF, Hartog Jager FC, Menko FH, Nagengast FM. Screening for hereditary non-polyposis colorectal cancer: a study of 22 kindreds in The Netherlands. Am J Med 1989 86 : 278 81.
11. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991 34 : 424 5.
12. Desai DC, Lockman JC, Chadwick RB, et al. Recurrent germline mutation in MSH2 arises frequently de novo. J Med Genet 2000 37 : 646 52.
13. Kraus C, Kastl S, Gunther K, Klessinger S, Hohenberger W, Ballhausen WG. A proven de novo germline mutation in HNPCC. J Med Genet 1999 36 : 919 21.
14. Wijnen J, De Leeuw W, Vasen H, et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 1999 23 : 142 4.
15. Park JG, Park YJ, Wijnen JT, Vasen HF. Gene-environment interaction in hereditary nonpolyposis colorectal cancer with implications for diagnosis and genetic testing. Int J Cancer 1999 82 : 516 9.
16. Watson P, Lynch HT. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 1993 71 : 677 85.
17. Vasen HF, Wijnen JT, Menko FH, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996 110 : 1020 7.
18. Vasen HF, Sanders EA, Taal BG, et al. The risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC). Int J Cancer 1996 65 : 422 5.
19. Sijmons RH, Kiemeney LA, Witjes JA, Vasen HF. Urinary tract cancer and hereditary nonpolyposis colorectal cancer: risks and screening options. J Urol 1998 160 : 466 70.
20. Aarnio M, Sankila R, Pukkala E, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999 81 : 214 8.
21. Scott RJ, McPhillips M, Meldrum CJ, et al. Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds. Am J Hum Genet 2001 68 : 118 27.
22. Vasen HF, Morreau H, Nortier JW. Is breast cancer part of the tumour spectrum of hereditary nonpolyposis colorectal cancer? Am J Hum Genet 2001 68 : 1533 5.
23. Soravia C, van der KH, Brundler MA, et al. Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumour spectrum. Am J Med Genet A 2003 121 : 159 62.
24. Aarnio M, Mecklin JP, Aaltonen LA, Nystrom-Lahti M, Jarvinen HJ. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 1995 64 : 430 3.
25. Vasen HF, Stormorken A, Menko FH, et al. MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families. J Clin Oncol 2001 19 : 4074 80.
26. Dunlop MG, Farrington SM, Carothers AD, et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 1997 6 : 105 10.
27. Hendriks YM, Wagner A, Morreau H, et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 2004 127 : 17 25.
28. Quehenberger F, Vasen HF, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 2005 42 : 491 6.
29. Lin KM, Shashidharan M, Ternent CA, et al. Colorectal and extracolonic cancer variations in MLH1/MSH2 hereditary nonpolyposis colorectal cancer kindreds and the general population. Dis Colon Rectum 1998 41 : 428 33.
30. Hendriks Y, Jagmohan-Changur S, van der Klift, et al. Heterozygous mutations in PMS2 cause Hereditary Nonpolyposis Colorectal Cancer (Lynch syndrome). Gastroenterology. 2006 130 : 313 22.
31. Menko FH, te Meerman GJ, Sampson JR. Variable age of onset in hereditary nonpolyposis colorectal cancer: clinical implications. Gastroenterology 1993 104 : 946 7.
32. Voskuil DW, Vasen HF, Kampman E, van't Veer P. Colorectal cancer risk in HNPCC families: development during lifetime and in successive generations. National Collaborative Group on HNPCC. Int J Cancer 1997 72 : 205 9.
33. Tsai YY, Petersen GM, Booker SV, Bacon JA, Hamilton SR, Giardiello FM. Evidence against genetic anticipation in familial colorectal cancer. Genet Epidemiol 1997 14 : 435 46.
34. de Jong AE, van Puijenbroek M, Hendriks Y, et al. Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res 2004 10 : 972 80.
35. de Vos tot Nederveen Cappel WH, Buskens E, van Duijvendijk P, et al. Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect. Gut 2003 52 : 1752 5.
36. de Jong AE, Morreau H, van Puijenbroek M, et al. The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC. Gastroenterology 2004 126 : 42 8.
37. Jass JR, Stewart SM, Stewart J, Lane MR. Hereditary non-polyposis colorectal cancer - morphologies, genes and mutations. Mutat Res 1994 310 : 125 33.
38. Vasen HF, Nagengast FM, Khan PM. Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome). Lancet 1995 345 : 1183 4.
39. Sankila R, Aaltonen LA, Jarvinen HJ, Mecklin JP. Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology 1996 110 : 682 7.
40. Jass JR, Walsh MD, Barker M, Simms LA, Young J, Leggett BA. Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability. Eur J Cancer 2002 38 : 858 66.
41. de Leeuw WJ, Dierssen J, Vasen HF, et al. Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients. J Pathol 2000 192 : 328 35.
42. van den BM, van den HM, Jongejan E, et al. More differences between HNPCC-related and sporadic carcinomas from the endometrium as compared to the colon. Am J Surg Pathol 2004 28 : 706 11.
43. Crijnen TE, Janssen-Heijnen ML, Gelderblom H, et al. Survival of Patients with Ovarian Cancer due to a Mismatch Repair Defect. Fam Cancer 2005 4 : 301 5.
44. Aarnio M, Salovaara R, Aaltonen LA, Mecklin JP, Jarvinen HJ. Features of gastric cancer in hereditary non-polyposis colorectal cancer syndrome. Int J Cancer 1997 74 : 551 5.
45. Rodriguez-Bigas MA, Vasen HF, Lynch HT, et al. Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma. International Collaborative Group on HNPCC. Cancer 1998 83 : 240 4.
46. Schulmann K, Brasch FE, Kunstmann E, et al. HNPCC-associated small bowel cancer: clinical and molecular characteristics. Gastroenterology 2005 128 : 590 9.
47. Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot's syndrome. N Engl J Med 1995 332 : 839 47.
48. de Jong AE. Shift in mortality due to surveillance in the Lynch syndrome. Gastroenterology. 2006 130 : 665 71.
49. Ponti G, Ponz dL. Muir-Torre syndrome. Lancet Oncol 2005 6 : 980 7.
50. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999 116 : 1453 6.
51. Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997 89 : 1758 62.
52. 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 2005 293 : 1986 94.
53. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004 96 : 261 8.
54. Wijnen JT, Vasen HF, Khan PM, et al. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 1998 339 : 511 8.
55. Aaltonen LA, Peltomaki P, Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993 260 : 812 6.
56. Hendriks Y, Franken P, Dierssen JW, et al. Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumours. Am J Pathol 2003 162 : 469 77.
57. Engel C, Forberg C, Holinski-Feder E, et al. Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer. Int J.Cancer. 2006 118 : 115 22.
58. Lerman C, Hughes C, Trock BJ, et al. Genetic testing in families with hereditary nonpolyposis colon cancer. JAMA 1999 281 : 1618 22.
59. Aktan-Collan K, Mecklin JP, Jarvinen H, et al. Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction. Int J Cancer 2000 89 : 44 50.
60. Wagner A, Tops C, Wijnen JT, et al. Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation. J Med Genet 2002 39 : 833 7.
61. Jarvinen HJ, Mecklin JP, Sistonen P. Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 1995 108 : 1405 11.
62. Jarvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000 118 : 829 34.
63. de Vos tot Nederveen Cappel WH, Nagengast FM, Griffioen G, et al. Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families. Dis Colon Rectum 2002 45 : 1588 94.
64. Lindor NM, Rabe K, Petersen GM, et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 2005 293 : 1979 85.
65. 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 2002 94 : 1708 12.
66. Rijcken FE, Mourits MJ, Kleibeuker JH, Hollema H, van der Zee AG. Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 2003 91 : 74 80.
67. Carethers JM, Chauhan DP, Fink D, et al. Mismatch repair proficiency and in vitro response to 5-fluorouracil. Gastroenterology 1999 117 : 123 31.
68. Elsaleh H, Joseph D, Grieu F, Zeps N, Spry N, Iacopetta B. Association of tumour site and sex with survival benefit from adjuvant chemotherapy in colorectal cancer. Lancet 2000 355 : 1745 50.
69. Ribic CM, Sargent DJ, Moore MJ, et al. Tumour microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 2003 349 : 247 57.