Genetic testing in gastroenterology: Lynch syndrome

Best Practice and Research: Clinical Gastroenterology

Volumn 23, Issue 2, 2009, Pages 185-196

  Grover, Shilpa ^a,b   Syngal, Sapna ^a,b  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

Author keywords

Hereditary non polyposis colorectal cancer; HNPCC; Lynch syndrome; mismatch repair genes

Indexed keywords

MISMATCH REPAIR PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CANCER RISK; CLINICAL FEATURE; COLORECTAL CANCER; FAMILIAL CANCER; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; ONSET AGE; RISK ASSESSMENT; RISK FACTOR;

COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DIAGNOSIS, DIFFERENTIAL; EARLY DETECTION OF CANCER; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GERM-LINE MUTATION; HUMANS; PATIENT SELECTION; PEDIGREE; PRACTICE GUIDELINES AS TOPIC; PREDICTIVE VALUE OF TESTS; RISK ASSESSMENT;

EID: 65349115326     PISSN: 15216918     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bpg.2009.02.006     Document Type: Article

References (76)

1. Aaltonen L.A., Salovaara R., Kristo P., et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Eng J Med 21 (1998) 1481-1487
2. Rustgi A.K. Hereditary gastrointestinal polyposis and nonpolyposis syndromes. N Engl J Med 331 25 (1994) 1694-1702
3. Salovaara R., Loukola A., Kristo P., et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 18 11 (2000) 2193-2200
4. Warthin A.S. The further study of a cancer family. J Cancer Res 9 (1925) 279-286
5. Lynch H.T., Follett K.L., Lynch P.M., et al. Family history in an oncology clinic. Implications for cancer genetics. JAMA 242 12 (1979) 1268-1272
6. Watson P., and Lynch H.T. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71 3 (1993) 677-685
7. Lynch Ht K.A. Cancer family 'G' revisited: 1895-1970. Cancer (1971) 1505-1511
8. Vasen H.F., Wijnen J.T., Menko F.H., et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 110 4 (1996) 1020-1027
9. Jenkins M.A., Baglietto L., Dowty J.G., et al. Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. Clin Gastroenterol Hepatol 4 4 (2006) 489-498
10. Quehenberger F., Vasen H.F., and van Houwelingen H.C. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 42 6 (2005) 491-496
11. Aarnio M., Mecklin J.P., Aaltonen L.A., et al. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 64 6 (1995) 430-433
12. Vasen H.F., Stormorken A., Menko F.H., 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 19 20 (2001) 4074-4080
13. Dunlop M.G., Farrington S.M., Carothers A.D., et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 6 1 (1997) 105-110
14. 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 1 (2004) 42-48
15. Aaltonen L.A., et al. Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res 54 7 (1994) 1645-1648
16. Lynch H.T., and de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 36 11 (1999) 801-818
17. Jass J.R., and Stewart S.M. Evolution of hereditary non-polyposis colorectal cancer. Gut 33 6 (1992) 783-786
18. Jass J.R., Walsh M.D., Barker M., et al. Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability. Eur J Cancer 38 7 (2002) 858-866
19. Vasen H.F.A., Mecklin J.-P., Meera Khan P., et al. The International Collaborative Group on hereditary nonpolyposis colorectal cancer (ICG-HNPCC). Dis Col Rectum 34 (1991) 424-425
20. Watson P., Lin K.M., Rodriguez-Bigas M.A., et al. Colorectal carcinoma survival among hereditary nonpolyposis colorectal carcinoma family members. Cancer 83 2 (1998) 259-266
21. Barnetson R.A., Tenesa A., Farrington S.M., et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 354 26 (2006) 2751-2763
22. Elsakov P., and Kurtinaitis J. Survival from colorectal carcinoma in HNPCC families as compared to the general population in Lithuania - initial results. Fam Cancer 5 4 (2006) 369-371
23. Aarnio M., Sankila R., Pukkala E., et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81 2 (1999) 214-218
24. Crijnen T.E., Janssen-Heijnen M.L., Gelderblom H., et al. Survival of patients with ovarian cancer due to a mismatch repair defect. Fam Cancer 4 4 (2005) 301-305
25. de Jong Ae H.Y., Kleibeuker J.H., de Boer S.Y., et al. Shift in mortality due to surveillance in the Lynch syndrome. Gastroenterology 130 (2006) 665-671
26. Vasen H.F., Sanders E.A., Taal B.G., et al. The risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC). Int J Cancer 65 4 (1996) 422-425
27. Hamilton S.R., Liu B., Parsons R.E., et al. The molecular basis of Turcot's syndrome. N Engl J Med 332 13 (1995) 839-847
28. Ponti G., and Ponz de Leon M. Muir-Torre syndrome. Lancet Oncol 6 12 (2005) 980-987
29. Soravia C., van der Klift H., Bründler M.A., et al. Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum. Am J Med Genet A 121A 2 (2003) 159-162
30. Vasen H.F., Morreau H., and Nortier J.W. Is breast cancer part of the tumor spectrum of hereditary nonpolyposis colorectal cancer?. Am J Hum Genet 68 6 (2001) 1533-1535
31. Fishel R., Ewel A., Lee S., et al. Binding of mismatched microsatellite DNA sequences by the human MSH2 protein. Science 266 5189 (1994) 1403-1405
32. Prolla T.A., Pang Q., Alani E., et al. MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeast. Science 265 5175 (1994) 1091-1093
33. Hemminki A., Peltomaki P., Mecklin J.P., et al. Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nat Genet 8 4 (1994) 405-410
34. Lazar V., Grandjouan S., Bognel C., et al. Accumulation of multiple mutations in tumour suppressor genes during colorectal tumorigenesis in HNPCC patients. Hum Mol Genet 3 12 (1994) 2257-2260
35. Boland C.R., Thibodeau S.N., Hamilton S.R., et al. 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 Res 58 22 (1998) 5248-5257
36. Hendriks Y., Franken P., Dierssen J.W., et al. Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. Am J Pathol 162 2 (2003) 469-477
37. 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
38. Niessen R.C., Berends M.J., Wu Y., et al. Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer. Gut 55 12 (2006) 1781-1788
39. Cunningham J.M., Kim C., Christensen E.R., et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet 69 4 (2001) 780-790
40. 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 16 (2005) 1986-1994
41. Debniak T., Kurzawski G., Gorski B., et al. Value of pedigree/clinical data, immunohistochemistry and microsatellite instability analyses in reducing the cost of determining hMLH1 and hMSH2 gene mutations in patients with colorectal cancer. Eur J Cancer 36 1 (2000) 49-54
42. Hampel H., Frankel W., Panescu J., et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 66 15 (2006) 7810-7817
43. Wang L., Cunningham J.M., Winters J.L., et al. BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. Cancer Res 63 17 (2003) 5209-5212
44. Vasen H.F.A., Watson P., Mecklin J.-P., et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 116 (1999) 1453-1456
45. 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
46. Syngal S., Fox E.A., Eng C., et al. Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1 [In Process Citation]. J Med Genet 37 9 (2000) 641-645
47. Umar A., Boland C., Terdiman J.P., et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96 4 (2004) 261-268
48. Rodriguez-Moranta F., Castells A., Andreu M., et al. Clinical performance of original and revised Bethesda guidelines for the identification of MSH2/MLH1 gene carriers in patients with newly diagnosed colorectal cancer: proposal of a new and simpler set of recommendations. Am J Gastroenterol 101 5 (2006) 1104-1111
49. Hampel H., Frankel W.L., Martin E., et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 352 18 (2005) 1851-1860
50. Balmana J., Stockwell D.H., Steyerberg E.W., et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 296 12 (2006) 1469-1478
51. Chen S., Wang W., Lee S., et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 296 12 (2006) 1479-1487
52. Balaguer F., Balmaña J., Castellví-Bel S., et al. Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients. Gastroenterology 134 1 (2008) 39-46
53. Balmana J., Balaguer F., Castellví-Bel S., et al. Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients. J Med Genet 45 9 (2008) 557-563
54. Lin K.M., Shashidharan M., Ternent C.A., et al. Colorectal and extracolonic cancer variations in MLH1/MSH2 hereditary nonpolyposis colorectal cancer kindreds and the general population. Dis Colon Rectum 41 4 (1998) 428-433
55. Kastrinos F., Stoffel E.M., Balmana J., et al. Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1914 individuals undergoing clinical genetic testing in the United States. Cancer Epidemiol Biomarkers Prev 17 8 (2008) 2044-2051
56. Hendriks Y.M., Wagner A., Morreau H., et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 127 1 (2004) 17-25
57. Senter L., Clendenning M., Sotamaa K., et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 135 2 (2008) 419-428
58. Jarvinen H.J., Mecklin J.-P., and Sistonen P. Screening reduces colorectal cancer rate in families with hereditary non-polyposis colorectal cancer. Gastroenterology 108 (1995) 1405-1411
59. Jarvinen 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 5 (2000) 829-834
60. Renkonen-Sinisalo L., Aarnio M., Mecklin J., et al. Surveillance improves survival of colorectal cancer in patients with hereditary nonpolyposis colorectal cancer. Cancer Detect Prev 24 2 (2000) 137-142
61. Burke W., Petersen G., Lynch P., et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium. JAMA 277 11 (1997) 915-919
62. Winawer S., Fletcher R., Rex D., et al. Colorectal cancer screening and surveillance: clinical guidelines and rationale - update based on new evidence. Gastroenterology 124 2 (2003) 544-560
63. de Jong A.E., Nagengast F.M., Kleibeuker J.H., et al. What is the appropriate screening protocol in Lynch syndrome?. Fam Cancer 5 4 (2006) 373-378
64. 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 6 (2002) 1708-1712
65. Rijcken F.E., Mourits M.J., Kleibeuker J.H., et al. Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 91 1 (2003) 74-80
66. Renkonen-Sinisalo L., Butzow R., Leminen A., et al. Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. Int J Cancer 120 4 (2007) 821-824
67. Schmeler K.M., Lynch H.T., Chen L.M., et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 354 3 (2006) 261-269
68. Offit K., and Kauff N.D. Reducing the risk of gynecologic cancer in the Lynch syndrome. N Engl J Med 354 3 (2006) 293-295
69. Boks D.E., Trujillo A.P., Voogd A.C., et al. Survival analysis of endometrial carcinoma associated with hereditary nonpolyposis colorectal cancer. Int J Cancer 102 2 (2002) 198-200
70. Watson P., Butzow R., Lynch H.T., et al. The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 82 2 (2001) 223-228
71. Jemal A., Murray T., Ward E., et al. Cancer statistics, 2005. CA Cancer J Clin 55 1 (2005) 10-30
72. de Vos tot Nederveen Cappel W.H., Nagengast F.M., Griffioen G., et al. Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families. Dis Colon Rectum 45 12 (2002) 1588-1594
73. de Vos tot Nederveen Cappel W.H., 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 12 (2003) 1752-1755
74. Sieber O.M., Lipton L., Crabtree M., et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 348 9 (2003) 791-799
75. Grover S., Stoffel E.M., Bussone L., et al. Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients. Clin Gastroenterol Hepatol 2 9 (2004) 813-819
76. Hampel H., Stephens J.A., Pukkala E., et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 129 2 (2005) 415-421