Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1

Genetic Testing

Volumn 3, Issue 3, 1999, Pages 259-264

  Wahlberg, Siobhan ^a   Liu, Tao ^a   Lindblom, Per ^a   Lindblom, Annika ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BASE MISPAIRING; CANCER RISK; COLORECTAL CANCER; GENE DELETION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MUTATION RATE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

BASE PAIR MISMATCH; CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DNA REPAIR; DNA-BINDING PROTEINS; ELECTROPHORESIS; FEMALE; GENETIC SCREENING; HUMANS; MALE; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PROTO-ONCOGENE PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY;

EID: 0032820317     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065799316563     Document Type: Article

References (32)

1. AALTONEN, L.A., PELTOMÄKI, P., LEACH, F.S., SISTONEN, P., PYLKKANEN, L., MECKLIN, J.P., JÄRVINEN, H., et al. (1993). Clues to the pathogenesis of familial colorectal cancer. Science 260, 812-816.
2. AARNIO, M., MUSTONEN, H., MECKLIN, J.P., and JARVINEN, H.J. (1998). Prognosis of colorectal cancer varies in different high-risk conditions. Ann. Med. 30, 75-80.
3. AKIYAMA, Y., SATO, H., YAMADA, T., NAGASAKI, H., TSUCHIYA, A., ABE, R., and YUASA, Y. (1997). Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res. 57, 3920-3923.
4. BECK, N.E., TOMLINSON, I.P., HOMFRAY, T., HODGSON, S.V., HAROCOPOS, C.J., and BODMER, W.F. (1997). Genetic testing is important in families with a history suggestive of hereditary nonpolyposis colorectal cancer even if the Amsterdam criteria are not fulfilled. Br. J. Surg. 84, 233-237.
5. BØRRESEN, A.L., LOTHE, R.A., MELING, G.I., LYSTAD, S., MORRISON, P., LIPFORD, J., KANE, M.F., ROGNUM, T.O., and KOLODNER, R.D. (1995). Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas. Hum. Mol. Genet. 4, 2065-2072.
6. CHARBONNIER, F., MARTIN, C., SCOTTE, M., SIBERT, L., MOREAU, V., and FREBOURG, T. (1995). Alternative splicing of MLH1 messenger RNA in human normal cells. Cancer Res. 55, 1839-1841.
7. FARRINGTON, S.M., LIN-GOERKE, J., LING, J., WANG, Y., BURCZAK, J.D., ROBBINS, D.J., and DUNLOP, M.G. (1998). Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. Am. J. Hum. Genet. 63, 749-759.
8. FROGGAT, N.J., JOYCE, J.A., DAVIES, R., EVANS, D.G.R., PONDER, B.A.J., BARTON, D.E., and MAHER, E.R. (1995). A frequent hmsh2 mutation in hereditary non-polyposis colon cancer syndrome. Lancet 345, 727.
9. FROGGATT, N.J., BRASSETT, C., KOCH, D.J., EVANS, D.G., HODGSON, S.V., PONDER, B.A., and MAHER, E.R. (1996). Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome. J. Med. Genet. 33, 726-730.
10. HAN, H.J., MARUYAMA, M., BABA, S., PARK, J.G., and NAKAMURA, Y. (1995). Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (NHPCC). Hum. Mol. Genet. 4, 237-242.
11. HOLMBERG, M., KRISTO, P., CHADWICK, R.B., MECKLIN, J.P., JÄRVINEN, H., DE, LA, CHAPELLE, A., NYSTRÖM-LAHTI, M., and PELTOMÄKI, P. (1997). Mutation sharing, predominant involvement of the MLH1 gene, and description of four novel mutations in hereditary nonpolyposis colorectal cancer, Hum. Mutat., Mutation in Brief #144 (〈http://journals.wiley.com/1059-7794/html/ mutation/holmtext.htm〉).
12. KINZLER, K.W., and VOGELSTEIN, B. (1996). Lessons from hereditary colorectal cancer. Cell 87, 159-170.
13. KOHONEN-CORISH, M., ROSS, V.L., DOE, W.F., KOOL, D.A., EDKINS, E., FARAGHER, I., WIJNEN, J., KHAN, P.M., MACRAE, F., and STJOHN, D.J. (1996). RNA-based mutation screening in hereditary nonpolyposis colorectal cancer. Am. J. Hum. Genet. 59, 818-824.
14. KOLODNER, R. (1996). Biochemistry and genetics of eukaryotic mismatch repair. Genes & Dev. 10, 1433-1442.
15. LUCE, M.C., BINNIE, C.G., CAYOUETTE, M.C., and KAM-MORGAN, L.N. (1996). Identification of DNA mismatch repair gene mutations in hereditary nonpolyposis colon cancer patients. Int. J. Can. 69, 50-52.
16. LIU, B., PARSONS, R., PAPADOPOULOS, N., NICOLAIDES, N.C., LYNCH, H.T., WATSON, P., JASS, J.R., DUNLOP, M., WYLLIE, A., PELTOMAKI, P., DE, LA, CHAPELLE, A., HAMILTON, S.R., VOGELSTEIN, B., and KINZLER, K.W. (1996). Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nature Med. 2, 169-174.
17. LIU, T., WAHLBERG, S., RUBIO, C., HOLMBERG, E., GRÖNBERG, H., and LINDBLOM, A. (1998a). DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer. Clin. Genet. 53, 131-135.
18. LIU, T., STATHOPOULOS, P., LINDBLOM, P., RUBIO, C., WASTESON-ARVER, B., ISELIUS, L., HOLMBERG, E., GRÖNBERG, H., LINDBLOM, A. (1998b). A MSH2 codon 322 Gly to Asp seems not to confer an increased risk for colorectal susceptibility. Eur. J. Cancer 34, 1981.
19. LYNCH, H.T., SMYRK, T.C., WATSON, P., LANSPA, S.J., LYNCH, J.F., LYNCH, P.M., CAVALIERI, R.J., and BOLAND, C.R. (1993). Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology 104, 1535-1549.
20. MARKOWITZ, S., WANG, J., MYEROFF, L., PARSONS, R., SUN, L., LUTTERBAUGH, J., FAN, R.S., ZBOROWSKA, E., KINZLER, K.W., VOGELSTEIN, B., BRATTAIN, M., and WILSON, J.K.V. (1995). Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science 268, 1336-1338.
21. MIYAKI, M., KONISHI, M., TANAKA, K., KIKUCHI-YANOSHITA, R., MURAOKA, M., YASUNO, M., IGARI, T., KOIKE, M., CHIBA, M., and MORI, T. (1997). Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nature Genet. 17, 271-272.
22. NYSTRÖM-LAHTI, M., KRISTO, P., NICOLAIDES, N.C., CHANG, S.Y., AALTONEN, L.A., MOISIO, A.L., JARVINEN, H.J., MECKLIN, J.P., KINZLER, K.W., VOGELSTEIN, B., DE, LA, CHAPELLE, A., and PELTOMÄKI, P. (1995). Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nature Med. 1, 1203-1206.
23. NYSTRÖM-LAHTI, M., WU, Y., MOISIO, A.L., HOFSTRA, R.M., OSINGA, J., MECKLIN, J.P., JARVINEN, H.J., LEISTI, J., BUYS, C.H., DE, LA, CHAPELLE, A., and PELTOMAKI, P. (1997). DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum. Mol. Genet. 5, 763-769.
24. PAPADOPOULOS, N., LEACH, F.S., KINZLER, K.W., and VOGELSTEIN, B. (1995). Monoallelic mutation analysis (MAMA) for identifying germline mutations. Nature Genet. 11, 99-102.
25. TANNERGÅRD, P., LIPFORD, J.R., KOLODNER, R., FRODIN, J.E., NORDENSKJOLD, M., and LINDBLOM, A. (1995a). Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. Cancer Res. 55, 6092-6096.
26. TANNERGÅRD, P., NORDENSKJOLD, M., and LINDBLOM, A. (1995b). Finnish mutations in Swedish HNPCC families. Nature Med. 1, 1104.
27. VASEN, H.F., MECKLIN, J.P., KHAN, P.M., and LYNCH, H.T. (1991). The international collaborative group on hereditary non-polyposis colorectal cancer. Dis. Colon Rectum 38, 424-425.
28. WAHLBERG, S.S., NYSTROM-LAHTI, M., KANE, M.F., KOLODNER, R.D., PELTOMAKI, P., and LINDBLOM, A. (1997). Low frequency of hMSH2 mutations in Swedish HNPCC families. Int. J. Cancer 74, 134-137.
29. WANG, Q., DESSEIGNE, F., LASSET, C., SAURIN, J.C., NAVARRO, C., YAGCI, T., KESER, I., BAGCI, H.; LULECI, G., GELEN, T., CHAYVIALLE, J.A., PUISIEUX, A., and OZTURK, M. (1997). Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families. Inter. J. Cancer 73, 831-836.
30. WIJNEN, J., VASEN, H., KHAN, P.M., MENKO, F.H., VAN, DER, KLIFT, H., VAN, LEEUWEN, C., VAN, DEN, BROEK, M., VAN, LEEUWEN-CORNELISSE, I., NAGENGAST, F., MEIJERS-HEIJBOER, A., LINDHOUT, D., GRIFFIOEN, G., CATS, A., KLEIBEUKER, J., VARESCO, L., BERTARIO, L., BISGARRD, M.L., MOHR, J., and FODDE, R. (1995). Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis. Am. J. Hum. Genet. 56, 1060-1066.
31. WIJNEN, J., VAN, DER, KLIFT, H., VASEN, H., KHAN, P.M., MENKO, F., TOPS, C., MEIJERS, HEIJBOER, H., LINDHOUT, D., MOLLER, P., and FODDE, R. (1998). MSH2 genomic deletions are a frequent cause of HNPCC. Nature Genet. 20, 326-328.
32. XIA, L., SHEN, W., RITACCA, F., MITRI, A., MADLENSKY, L., BERK, T., COHEN, Z., GALLINGER, S., and BAPAT, B. (1996). A truncated hMSH2 transcript occurs as a common variant in the population: implications for genetic diagnosis. Cancer Res. 55, 1839-1841.