Colorectal cancer susceptibility associated with the hMLH1 V384D variant

Molecular Medicine Reports

Volumn 2, Issue 6, 2009, Pages 887-891

  Ohsawa, Tomonori ^a,b   Sahara, Tomoko ^a,c   Muramatsu, Shino ^a,c   Nishimura, Yoji ^a   Yathuoka, Toshimasa ^a   Tanaka, Yoichi ^a   Yamaguchi, Kensei ^a   Ishida, Hideyuki ^b   Akagi, Kiwamu ^a  

^a SAITAMA CANCER CENTER   (Japan)

^b SAITAMA MEDICAL UNIVERSITY   (Japan)

^c OCHANOMIZU UNIVERSITY   (Japan)

Author keywords

Colorectal cancer; hMLH1; Lynch syndrome; Microsatellite instability; RFLP; Variant

Indexed keywords

ASPARTIC ACID; PROTEIN MLH1; VALINE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CANCER PATIENT; CANCER SUSCEPTIBILITY; CODON; COLORECTAL CANCER; CONTROLLED STUDY; DNA EXTRACTION; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; JAPANESE; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 73649105151     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr_00000187     Document Type: Article

References (26)

1. Lynch HT and de la Chapelle A: Hereditary colorectal cancer. N Engl J Med 348: 919-932, 2003.
2. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystrom-Lahti M, Guan XY, Zhang J, Meltzer PS, Yu JW, Kao FT, Chen DJ, Cerosaletti KM, Keith-Fournier RE, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin JP, Jarvinen H, Petersen GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, de la Chapelle A, Kinzler KW and Vogelstein B: Mutations of a mutS homolog in hereditary non-polyposis colorectal cancer. Cell 75: 1215-1225, 1993.
3. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A, Tannergard P, Bollag RJ, Godwin AR, Ward DC, Fishel R, Kolodner R and Liskay M: Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary nonpolyposis colon cancer. Nature 368: 258-261, 1994.
4. Papadopoulos N, Nicolaides NC, Wei YF, et al: Mutation of a mutL homolog in hereditary colon cancer. Science 263: 1625-1629, 1994.
5. Papadopoulos N, Nicolaides NC, Liu B, et al: Mutations of GTBP in genetically unstable cells. Science 268: 1915-1917, 1995.
6. Peltomaki P and Vasen H: Mutations associated with HNPCC predisposition-update of ICG-HNPCC/INSIGHT mutations data base. Dis Markers 20: 269-276, 2004.
7. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, Lockman J, Comeras I and de la Chapelle A: Screening for the Lynch syndrome (hereditary non-polyposis colorectal cancer). N Engl J Med 352: 1851-1860, 2005.
8. Ishikubo T, Nishimura Y, Yamaguchi K, Khansuwan U, Arai Y, Kobayashi T, Ohkura Y, Hashiguchi Y, Tanaka Y and Akagi K: The clinical features of rectal cancers with high-frequency micro-satellite instability (MSI-H) in Japanese males. Cancer Lett 216: 55-62, 2004.
9. Pinol V, Castells A, Andreu M, Castellvi-Bel S, Alenda C, Llor X, Xicola RM, Rodriguez-Moranra F, Paya A, Jover R and Bessa X: Accuracy of revised Bethesda guidelines, microsatellite instability and immunohistochemistry for the identification of patients with hereditary non-polyposis colorectal cancer. Jama 293: 1986-1994, 2005.
10. Ward R, Meagher A, Tomlinson I, O'Connor T, Norrie M, Wu R and Hawkins N: Microsatellite instability and the clinicopathological features of sporadic colorectal cancer. Gut 48: 821-829, 2001.
11. Herman JG, Umer A, Polyak K, Graff JR, Ahuja N, Issa JP, Markowitz S, Willson JK, Hamilton SR, Kinzler KW, Kane MF, Kolodner RD, Vogelstein B, Kunkel TA and Baylin SB: Incidence and functional consequences of hMLH1 promoter hyper-methylation in colorectal carcinoma. Proc Natl Acad Sci USA 95: 6870-6875, 1998.
12. Cunningham JM, Christensen ER, Tester DJ, Kim CY, Roche PC, Burgart LJ and Thibodeau SN: Hypermethylation of the hMLH1 promotor in colon cancer with microsatellite instability. Cancer Res 58: 3455-3460, 1998.
13. Vasen HF, Watson P, Mecklin JP and Lynch HT: New clinical criteria for hereditary non-polyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterol 116: 1453-1456, 1999.
14. Umer A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriquez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN and Srivastava S: Revised Bethesda guidelines for hereditary non-polyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96: 261-268, 2004.
15. Takahashi M, Shimodaira H, Andreutti-Zaugg C, Iggo R, Kolodner RD and Ishioka C: Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. Cancer Res 67: 4595-4604, 2007.
16. Fan Y, Wang W, Zhu M, Zhou J, Peng J, Xu L, Hua Z, Gao X and Wang Y: Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary non-polyposis colorectal cancer. Clin Cancer Res 13: 7515-7521, 2007.
17. Lee SC, Guo JY, Lim R, Soo R, Koay E, Salto-Tellez M, Leong A and Goh BC: Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. Clin Genet 68: 137-145, 2005.
18. Wang Y, Friedl W, Lamberti C, Nothen MM, Kruse R and Propping P: A novel missense mutation in the DNA mismatch repair gene hMLH1 present among East Asians but not among Europeans. Hum Hered 48: 87-91, 1998.
19. Wang Y, Zhou J, Li Z, Gao C and Gao P: One of the etiological factors of digestive tract cancers in Chinese: the missense mutations Val384Asp in the hMLH1 gene. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 17: 82-86, 2000.
20. Akagi K, Uchibori R, Yamaguchi K, Kurosawa K, Tanaka Y and Kozu T: Characterization of a novel oncogenic K-ras mutation in colon cancer. Biochem Biophys Res Commun 352: 728-732, 2007.
21. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, Meltzer SJ, Rodrinquez-Bigas MA, Fodde R, Ranzani GN and Srivastava S: 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: 5248-5257, 1998.
22. Kotake K, Honjo S, Sugihara K, Kato T, Kodaira S, Takahashi T, Yasutomi M, Muto T and Koyama Y: Changes in colorectal cancer during a 20-year period: an extended report from the multi-institutional registry of large bowel cancer, Japan. Dis Colon Rectum 46: S32-S43, 2003.
23. Asaka S, Arai Y, Nishimura Y, Yamaguchi K, Ishikubo T, Yatsuoka T, Tanaka Y and Akagi K: Microsatellite instability-low colorectal cancer acquiers a K-ras mutation during the progression from Dukes' A to Dukes' B. Carcinogenesis 30: 494-499, 2009.
24. De la Chapelle A: Genetic predisposition to colorectal cancer. Nat Rev Cancer 4: 769-780, 2004.
25. Moslein G, Tester DJ, Lindor NM, Honchel R, Cunningham JM, French AJ, Halling KC, Schwab M, Goretzki P and Thibodeau SN: 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.
26. Lipkin SM, Rozek LS, Rennert G, Yang W, Chen PC, Hacia J, Hunt N, Shin B, Fodor S, Kokoris M, Greenson JK, Fearon E, Lynch H, Collins F and Gruber SB: The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. Nat Genet 36: 694-699, 2004.