Hereditary non-polyposis colorectal cancer/Lynch syndrome in Korean patients with endometrial cancer

Japanese Journal of Clinical Oncology

Volumn 40, Issue 12, 2010, Pages 1121-1127

  Lim, Myong Cheol ^a   Seo, Sang Soo ^a   Kang, Sokbom ^a   Seong, Moon Woo ^a   Lee, Bo Yon ^b   Park, Sang Yoon ^a  

^a National Cancer Center   (South Korea)

^b Kyung Hee University College of Medicine   (South Korea)

Author keywords

Endometrial cancer; Hereditary disease; Koreans; MLH1; MSH2

Indexed keywords

ARTICLE; ECONOMIC ASPECT; ENDOMETRIUM CANCER; FAMILIAL CANCER; FINANCIAL MANAGEMENT; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; KOREA; MAJOR CLINICAL STUDY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; ENDOMETRIAL NEOPLASMS; FEMALE; GENETIC MARKERS; GENETIC TESTING; HUMANS; KOREA; MIDDLE AGED; MUTATION; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PATIENT ACCEPTANCE OF HEALTH CARE; RESEARCH DESIGN; RETROSPECTIVE STUDIES; TUMOR MARKERS, BIOLOGICAL;

EID: 78649536905     PISSN: 03682811     EISSN: 14653621     Source Type: Journal    
DOI: 10.1093/jjco/hyq144     Document Type: Article

References (48)

1. Lee SE, Kim JW, Park NH, Song YS, Kang SB, Lee HP. Contemporary trends of endometrial cancer in Korean women. Korean J Gynecol Oncol 2005;16:215-20.
2. Narod SA. Clinical Genetics of Gynecological Cancer, 4th edn. Philadelphia: Lippincott Williams & Willkins 2005.
3. 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;17:271-2.
4. Wu Y, Berends MJ, Mensink RG, Kempinga C, Sijmons RH, van Der Zee AG, et al. Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet 1999;65:1291-8.
5. 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 1997;113:1146-58.
6. Akiyama Y, Sato H, Yamada T, Nagasaki H, Tsuchiya A, Abe R, et al. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 1997;57:3920-3.
7. 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.
8. 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.
9. Park JG, Vasen HF, Park YJ, Park KJ, Peltomaki P, de Leon MP, et al. Suspected HNPCC and Amsterdam criteria II: evaluation of mutation detection rate, an international collaborative study. Int J Colorectal Dis 2002;17:109-14.
10. Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999;81:214-8.
11. 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;6:105-10.
12. Yoon SN, Ku JL, Shin YK, Kim KH, Choi JS, Jang EJ, et al. Hereditary nonpolyposis colorectal cancer in endometrial cancer patients. Int J Cancer 2008;122:1077-81.
13. Yoon JH, Lee SK, Lee SH, Tons SY, Kim SR, Do IG, et al. A case of endometrial cancer with hereditary non-polyposis colorectal cancer (HNPCC). Korean J Obstet Gynecol 2005;48:1555-62.
14. Banno K, Susumu N, Hirao T, Yanokura M, Hirasawa A, Aoki D, et al. Two Japanese kindreds occurring endometrial cancer meeting new clinical criteria for hereditary non-polyposis colorectal cancer (HNPCC), Amsterdam criteria II. J Obstet Gynaecol Res 2004;30: 287-92.
15. Wang Y, Xue F, Broaddus RR, Tao X, Xie SS, Zhu Y. Clinicopathological features in endometrial carcinoma associated with Lynch syndrome in China. Int J Gynecol Cancer 2009;19:651-6.
16. Weitzel JN, Lagos VI, Cullinane CA, Gambol PJ, Culver JO, Blazer KR, et al. Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA 2007;297:2587-95.
17. Katballe N, Juul S, Christensen M, Orntoft TF, Wikman FP, Laurberg S. Patient accuracy of reporting on hereditary non-polyposis colorectal cancer-related malignancy in family members. Br J Surg 2001;88:1228-33.
18. Kerber RA, Slattery ML. Comparison of self-reported and database-linked family history of cancer data in a case-control study. Am J Epidemiol 1997;146:244-8.
19. Lim PC, Tester D, Cliby W, Ziesmer SC, Roche PC, Hartmann L, et al. Absence of mutations in DNA mismatch repair genes in sporadic endometrial tumors with microsatellite instability. Clin Cancer Res 1996;2:1907-11.
20. Kobayashi K, Sagae S, Kudo R, Saito H, Koi S, Nakamura Y. Microsatellite instability in endometrial carcinomas: frequent replication errors in tumors of early onset and/or of poorly differentiated type. Genes Chromosomes Cancer 1995;14:128-32.
21. Kobayashi K, Matsushima M, Koi S, Saito H, Sagae S, Kudo R, et al. Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability. Jpn J Cancer Res 1996;87:141-5.
22. Katabuchi H, van Rees B, Lambers AR, Ronnett BM, Blazes MS, Leach FS, et al. Mutations in DNA mismatch repair genes are not responsible for microsatellite instability in most sporadic endometrial carcinomas. Cancer Res 1995;55:5556-60.
23. Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 2006;66: 7810-7.
24. Chadwick RB, Pyatt RE, Niemann TH, Richards SK, Johnson CK, Stevens MW, et al. Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma. J Med Genet 2001;38:461-6.
25. Banno K, Susumu N, Yanokura M, Hirao T, Iwata T, Hirasawa A, et al. Association of HNPCC and endometrial cancers. Int J Clin Oncol 2004;9:262-9.
26. Goodfellow PJ, Buttin BM, Herzog TJ, Rader JS, Gibb RK, Swisher E, et al. Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. Proc Natl Acad Sci USA 2003;100:5908-13.
27. Devlin LA, Graham CA, Price JH, Morrison PJ. Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. Ulster Med J 2008;77:25-30.
28. Westin SN, Lacour RA, Urbauer DL, Luthra R, Bodurka DC, Lu KH, et al. Carcinoma of the lower uterine segment: a newly described association with Lynch syndrome. J Clin Oncol 2008;26:5965-71.
29. Ollikainen M, Abdel-Rahman WM, Moisio AL, Lindroos A, Kariola R, Jarvela I, et al. Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome? J Clin Oncol 2005;23:4609-16.
30. Lu KH, Schorge JO, Rodabaugh KJ, Daniels MS, Sun CC, Soliman PT, et al. Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer. J Clin Oncol 2007;25:5158-64.
31. Hirai Y, Banno K, Suzuki M, Ichikawa Y, Udagawa Y, Sugano K, et al. Molecular epidemiological and mutational analysis of DNA mismatch repair (MMR) genes in endometrial cancer patients with HNPCC-associated familial predisposition to cancer. Cancer Sci 2008;99:1715-9.
32. Berends MJ, Wu Y, Sijmons RH, van der Sluis T, Ek WB, Ligtenberg MJ, et al. Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis. J Clin Oncol 2003;21:4364-70.
33. Shin YK, Heo SC, Shin JH, Hong SH, Ku JL, Yoo BC, et al. Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. Hum Mutat 2004;24:351.
34. Kim JC, Kim HC, Roh SA, Koo KH, Lee DH, Yu CS, et al. hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer. Cancer Detect Prev 2001;25:503-10.
35. Niessen RC, Kleibeuker JH, Westers H, Jager PO, Rozeveld D, Bos KK, et al. PMS2 involvement in patients suspected of Lynch syndrome. Genes Chromosomes Cancer 2009;48:322-9.
36. d'Agincourt-Canning L, Baird P. Genetic testing for hereditary cancers: the impact of gender on interest, uptake and ethical considerations. Crit Rev Oncol Hematol 2006;58:114-23.
37. Keller M, Jost R, Kadmon M, Wullenweber HP, Haunstetter CM, Willeke F, et al. Acceptance of and attitude toward genetic testing for hereditary nonpolyposis colorectal cancer: a comparison of participants and nonparticipants in genetic counseling. Dis Colon Rectum 2004;47:153-62.
38. Lerman C, Hughes C, Trock BJ, Myers RE, Main D, Bonney A, et al. Genetic testing in families with hereditary nonpolyposis colon cancer. JAMA 1999;281:1618-22.
39. Lynch HT, Boland CR, Rodriguez-Bigas MA, Amos C, Lynch JF, Lynch PM. Who should be sent for genetic testing in hereditary colorectal cancer syndromes? J Clin Oncol 2007;25:3534-42.
40. Guerrette S, Wilson T, Gradia S, Fishel R. Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. Mol Cell Biol 1998;18:6616-23.
41. Esteller M, Levine R, Baylin SB, Ellenson LH, Herman JG. MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas. Oncogene 1998;17:2413-7.
42. Umar A, Risinger JI, Hawk ET, Barrett JC. Testing guidelines for hereditary non-polyposis colorectal cancer. Nat Rev Cancer 2004;4:153-8.
43. Terdiman JP, Gum JR, Jr, Conrad PG, Miller GA, Weinberg V, Crawley SC, et al. Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing. Gastroenterology 2001;120:21-30.
44. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005;352:1851-60.
45. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994;368:258-61.
46. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993;75:1215-25.
47. Wijnen J, de Leeuw W, Vasen H, van der Klift H, Moller P, Stormorken A, et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 1999;23:142-4.
48. Lim MC, Kang S, Seo SS, Kong SY, Lee BY, Lee SK, et al. BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients. J Cancer Res Clin Oncol 2009;135:1593-9.