Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with lynch syndrome: A report by the German HNPCC consortium

Journal of Clinical Oncology

Volumn 24, Issue 26, 2006, Pages 4285-4292

  Goecke, Timm ^a   Schulmann, Karsten ^b   Engel, Christoph ^b   Holinski Feder, Elke ^b   Pagenstecher, Constanze ^b   Schackert, Hans K ^b   Kloor, Matthias ^b   Kunstmann, Erdmute ^b   Vogelsang, Holger ^b   Keller, Gisela ^b   Dietmaier, Wolfgang ^b   Mangold, Elisabeth ^b   Friedrichs, Nicolaus ^b   Propping, Peter ^b   Krüger, Stefan ^b   Gebert, Johannes ^b   Schmiegel, Wolff ^b   Rueschoff, Josef ^b   Loeffler, Markus ^b   Moeslein, Gabriela ^b  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2; CARRIER PROTEIN; MICROSATELLITE DNA; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN;

ADULT; ARTICLE; CANCER DIAGNOSIS; CANCER PATIENT; COLORECTAL CANCER; CONTROLLED STUDY; FAMILIAL CANCER; FAMILY RELATION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROSTATE CANCER; RECTUM CANCER; STOMACH CANCER; TUMOR LOCALIZATION; AGE; CAUCASIAN; CLINICAL TRIAL; COLORECTAL TUMOR; COMPARATIVE STUDY; FEMALE; GENETICS; GENOTYPE; GERMANY; HETEROZYGOTE; IMMUNOHISTOCHEMISTRY; MALE; MULTICENTER STUDY; MUTATION; PHENOTYPE; RECTUM TUMOR; SECOND CANCER;

ADULT; AGE FACTORS; CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOTYPE; GERM-LINE MUTATION; GERMANY; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE REPEATS; MUTATION; MUTS HOMOLOG 2 PROTEIN; NEOPLASMS, SECOND PRIMARY; NUCLEAR PROTEINS; PHENOTYPE; RECTAL NEOPLASMS;

EID: 33749029656     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2005.03.7333     Document Type: Article

References (50)

1. Peltomaki P, Vasen HF: Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study - The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology 113:1146-1158, 1997
2. Liu B, Parsons R, Papadopoulos N, et al: Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 2:169-174, 1996
3. 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 338:1481-1487, 1998
4. Salovaara R, Loukola A, Kristo P, et al: Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 18:2193-2200, 2000
5. Percesepe A, Borghi F, Menigatti M, et al: Molecular screening for hereditary nonpolyposis colorectal cancer: A prospective, population-based study. J Clin Oncol 19:3944-3950, 2001
6. Vasen HF, Mecklin JP, Khan PM, et al: The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 34:424-425, 1991
7. Vasen HF, Watson P, Mecklin JP, et al: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116:1453-1456, 1999
8. Lynch HT, de la Chapelle A: Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 36:801-818, 1999
9. Aarnio M, Sankila R, Pukkala E, et al: Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81:214-218, 1999
10. Watson P, Lynch HT: The tumor spectrum in HNPCC. Anticancer Res 14:1635-1639, 1994
11. Kruse R, Rutten A, Lamberti C, et al: Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. Am J Hum Genet 63:63-70, 1998
12. Hamilton SR, Liu B, Parsons RE, et al: The molecular basis of Turcot's syndrome. N Engl J Med 332:839-847, 1995
13. Vasen HF, Sanders EA, Taal BG, et al: The risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC). Int J Cancer 65:422-425, 1996
14. Vasen HF, Wijnen JT, Menko FH, et al: Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 110:1020-1027, 1996
15. 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 45:1588-1594, 2002
16. Mecklin JP, Jarvinen HJ: Clinical features of colorectal carcinoma in cancer family syndrome. Dis Colon Rectum 29:160-164, 1986
17. 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 118:829-834, 2000
18. Peltomaki P: Deficient DNA mismatch repair: A common etiologic factor for colon cancer. Hum Mol Genet 10:735-740, 2001
19. Peltomaki P, Gao X, Mecklin JP: Genotype and phenotype in hereditary nonpolyposis colon cancer: A study of families with different vs. shared predisposing mutations. Fam Cancer 1:9-15, 2001
20. Parc Y, Boisson C, Thomas G, et al: Cancer risk in 348 French MSH2 or MLH1 gene carriers. J Med Genet 40:208-213, 2003
21. Lin KM, Shashidharan M, Thorson AG, et al: Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer. J Gastrointest Surg 2:67-71, 1998
22. Dunlop MG, Farrington SM, Carothers AD, et al: Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 6:105-110, 1997
23. Bisgaard ML, Jager AC, Myrhoj T, et al: Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation. Hum Mutat 20:20-27, 2002
24. 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 19:4074-4080, 2001
25. Mangold E, Pagenstecher C, Leister M, et al: A genotype-phenotype correlation in HNPCC: Strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. J Med Genet 41:567-572, 2004
26. Kruse R, Lamberti C, Wang Y, et al: Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? Hum Genet 98:747-750, 1996
27. Soravia C, van der Klift H, Brundler MA, et al: Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum. Am J Med Genet A 121:159-162, 2003
28. 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 89:1758-1762, 1997
29. Wang Y, Friedl W, Sengteller M, et al: A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1. Hum Mutat 19:279-286, 2002
30. Mangold E, Pagenstecher C, Friedl W, et al: Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. Int J Cancer 116:692-702, 2005
31. Wagner A, Barrows A, Wijnen JT, et al: Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: High mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Am J Hum Genet 72:1088-1100, 2003
32. Giardiello FM, Brensinger JD, Petersen GM: AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology 121:198-213, 2001
33. Weber TK, Conlon W, Petrelli NJ, et al: Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees. Cancer Res 57:3798-3803, 1997
34. Syngal S, Fox EA, Li C, et al: Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: Implications for clinical predisposition testing. JAMA 282:247-253, 1999
35. Moslein G, Tester DJ, Lindor NM, et al: Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum Mol Genet 5:1245-1252, 1996
36. Buerstedde JM, Alday P, Torhorst J, et al: Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. J Med Genet 32:909-912, 1995
37. Watson P, Lynch HT: Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71:677-685, 1993
38. Froggatt NJ, Green J, Brassett C, et al: A common MSH2 mutation in English and North American HNPCC families: Origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet 36:97-102, 1999
39. Lynch HT, Watson P, Kriegler M, et al: Differential diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome I and Lynch syndrome II). Dis Colon Rectum 31:372-377, 1988
40. Lynch PM, Lynch HT, Harris RE: Hereditary proximal colonic cancer. Dis Colon Rectum 20:661-668, 1977
41. Myrhoj T, Bisgaard ML, Bernstein I, et al: Hereditary non-polyposis colorectal cancer: Clinical features and survival. Results from the Danish HNPCC register. Scand J Gastroenterol 32:572-576, 1997
42. Percesepe A, Benatti P, Roncucci L, et al: Survival analysis in families affected by hereditary non-polyposis colorectal cancer. Int J Cancer 71:373-376, 1997
43. Fitzgibbons RJ Jr, Lynch HT, Stanislav GV, et al: Recognition and treatment of patients with hereditary nonpolyposis colon cancer (Lynch syndromes I and II). Ann Surg 206:289-295, 1987
44. Lindgren G, Liljegren A, Jaramillo E, et al: Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer. Gut 50:228-234, 2002
45. Park JG, Park YJ, Wijnen JT, et al: Gene-environment interaction in hereditary nonpolyposis colorectal cancer with implications for diagnosis and genetic testing. Int J Cancer 82:516-519, 1999
46. Park YJ, Shin KH, Park JG: Risk of gastric cancer in hereditary nonpolyposis colorectal cancer in Korea. Clin Cancer Res 6:2994-2998, 2000
47. Dunlop MG: Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome. Gut 51:V21-V27, 2002 (suppl 5)
48. Schulmann K, Brasch FE, Kunstmann E, et al: HNPCC-associated small bowel cancer: Clinical and molecular characteristics. Gastroenterology 128:590-599, 2005
49. 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 83:240-244, 1998
50. Bandipalliam P, Garber J, Kolodner RD, et al: Clinical presentation correlates with the type of mismatch repair gene involved in hereditary nonpolyposis colon cancer. Gastroenterology 126:936-937, 2004