Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer

International Journal of Cancer

Volumn 78, Issue 6, 1998, Pages 680-684

  Hutter, Pierre ^a   Couturier, Alexia ^a   Membrez, Véronique ^b   Joris, François ^a   Sappino, André Pascal ^c   Chappuis, Pierre O ^c  

^a Institut Central des Hopitaux Valaisans   (Switzerland)

^b Hopital de Sion   (Switzerland)

^c UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER RISK; CARCINOGENESIS; COLORECTAL CANCER; FAMILIAL CANCER; GENE MUTATION; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN TISSUE; PRIORITY JOURNAL;

ADULT; CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA-BINDING PROTEINS; GENETIC SCREENING; GERM-LINE MUTATION; HUMANS; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PROTO-ONCOGENE PROTEINS; SWITZERLAND;

EID: 0031771913     PISSN: 00207136     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0215(19981209)78:6<680::AID-IJC3>3.0.CO;2-U     Document Type: Article

References (28)

1. AALTONEN, L.A., SANKILA, R., MECKLIN, J.P., JÄRVINEN, H., PUKKALA, E., PELTOMAKI, P. and DE LA CHAPELLE, A., A novel approach to estimate the proportion of hereditary non-polyposis colorectal cancer of total colorectal-cancer burden. Cancer Detect. Prev., 18, 57-63 (1994).
2. BUERSTEDDE, J.M., ALDAY, P., TORHORST, J., WEBER, W., MULLER, H. and SCOTT, R., 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).
3. CAI, S.P., ENG, B., FRANCOMBE, W.H., OLIVIERI, N.F., KENDALL, A.G., WAYE, J.S. and CHUI, D.H., Two novel β-thalassemia mutations in the 5′ and 3′ noncoding regions of the β-globin gene. Blood, 79, 1342-1346 (1992).
4. CHARBONNIER, F., MARTIN, C., SCOTTE, M., SIBERT, L., MOREAU, V. and FREBOURG, T., Alternative splicing of MLH1 messenger RNA in human normal cells. Cancer Res., 55, 1839-1841 (1995).
5. FISHEL, R., LESCOE, M.K., RAO, M.R., COPELAND, N.G., JENKINS, N.A., GARBER, J., KANE, M. and KOLODNER, R., The human mutator gene homolog hMSH2 and its association with hereditary non-polyposis colon cancer. Cell, 75, 1027-1038 (1993).
6. GENUARDI, M., VIEL, A., BONORA, D., CAPOZZI, E., BELLACOSA, A., LEONARDI, F., VALLE, R., VENTURA, A., PEDRONI, M., BOIOCCHI, M. and NERI, G., Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal-cancer susceptibility. Hum. Genet., 102, 15-20 (1998).
7. HUTTER, P., COUTURIER, A., SCOTT, R.J., ALDAY, P., DELOZIER-BLANCHET, C., CACHAT, F., ANTONARAKIS, S.E., JORIS, F., GAUDIN, M., D'AMATO, L. and BUERSTEDDE, J.M., Complex predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation. J. Med. Genet., 33, 636-640 (1996).
8. KOHONEN-CORISH, M., ROSS, V.L., DOE, W.F., KOOL, D.A., EDKINS, E., FARAGHER, I., WIJNEN, J., KHAN, P.M., MACRAE, F. and ST JOHN, D.J., RNA-based mutation screening in hereditary nonpolyposis colorectal cancer. Amer. J. hum. Genet., 59, 818-824 (1996).
9. KOLODNER, R.D., HALL, N.R., LIPFORD, J., KANE, M.F., MORRISON, P.T., FINAN, P.J., BURN, J., CHAPMAN, P., EARABINO, C., MERCHANT, E. and BISHOP, D.T., Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. Cancer Res., 55, 242-248 (1995).
10. KOLODNER, R.D., HALL, N.R., LIPFORD, J., KANE, M.F., RAO, M.R., MORRISON, P., WIRTH, L., FINAN, P.J., BURN, J. and CHAPMAN, P., Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. Genomics, 24, 516-526 (1994).
11. LAKEN, S.J. and 15 OTHERS, Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nature Genet., 17, 79-83 (1997).
12. LEACH, F.S. and 34 OTHERS, Mutations of a mutS homolog in hereditary non-polyposis colorectal cancer. Cell, 75, 1215-1225 (1993).
13. Lu, S.-L., KAWABATA, M., IMAMURA, T., AKIYAMA, Y., NOMIZU, T., MIYAZONO, K. and YUASA, Y., HNPCC associated with germtine mutation in the TGF-β type-II receptor gene. Nature Genet., 19, 17-18 (1998).
14. LYNCH, H.T., SMYRK, T.C., WATSON, P., LANSPA, S.J., LYNCH, J.F., LYNCH, P.M., CAVALIERI, R.J. and BOLAND, C.R., Genetics, natural history, tumor spectrum and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology, 104, 1535-1549 (1993).
15. MARKOWITZ, S., WANG, J., MYEROFF, L., PARSONS, R., SUN, L., LUTTER-BAUGH, J., FAN, R.S., ZBOROWSKA, E., KINZLER, K.W., VOGELSTEIN, B., BRATTAIN, M. and WILLSON, J.K.V., Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability. Science, 268, 1336-1338 (1995).
16. MIYAKI, M., KONISHI, M., TANAKA, K., KIKUCHI-YANOSHITA, R., MURAOKA, M., YASUNO, M., IGARI, T., KOIKE, M., CHIBA, M. and MORI, T., Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nature Genet., 17, 211-272 (1997).
17. NICOLAIDES, N.C. and 17 OTHERS, Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature (Lond.), 371, 75-80 (1994).
18. NYSTRÖM-LAHTI, M., KRISTO, P., NICOLAIDES, N.C., CHANG, S.Y., AALTONEN, L.A., MOISIO, A.L., JÄRVINEN, H.J., MECKLIN, J.P., KINZLER, K.W., VOGELSTEIN, B., DE LA CHAPELLE, A. and PELTOMÄKI, P., Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nature Med., 11, 1203-1206 (1995).
19. NYSTRÖM-LAHTI, M., WU, Y., MOISIO, A.L., HOFSTRA, R.M., OSINGA, J., MECKLIN, J.P., JÄRVINEN, H.J., LEISTI, J., BUYS, C.H., DE LA CHAPELLE, A. and PELTOMÄKI, P., DNA-mismatch-repair-gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum. mol. Genet., 5, 763-769 (1996).
20. PAPADOPOULOS, N. and 19 OTHERS, Mutation of a mutL homolog in hereditary colon cancer. Science, 263, 1625-1629 (1994).
21. PELTOMÄKI, P., VASEN, H.F.A. and the ICG-HNPCC, Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. Gastroenterology, 113, 1146-1158 (1997).
22. POWELL, S.M., PETERSEN, G.M., KRUSH, A.J., BOOKER, S., JEN, J., GIARDIELLO, F.M., HAMILTON, S.R., VOGELSTEIN, B. and KINZLER, K.W., Molecular diagnosis of familial adenomatous polyposis. New Engl. J. Med., 329, 1982-1987 (1993).
23. RAMPINO, N., YAMAMOTO, H., IONOV, Y., LI, Y., SAWAI, H., REED, J.C. and PERUCHO, M., Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Science, 275, 967-969 (1997).
24. SOUZA, R.F. and 20 OTHERS, Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumors. Nature Genet, 14, 255-257 (1996).
25. THIBODEAU, S.N., BREN, G. and SCHAID, D., Microsatellite instabiuty in cancer of the proximal colon. Science, 260, 816-819 (1993).
26. VASEN, H.F., MECKLIN, J.P., KHAN, P.M. and LYNCH, H.T., The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis. Colon Rectum, 34, 424-425 (1991).
27. VIEL, A. and 18 OTHERS, Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. Genes Chromosomes Cancer, 18, 8-18 (1997).
28. WAHLBERG, S.S., NYSTRÖM-LAHTI, M., KANE, M.F., KOLODNER, R.D., PELTOMÄKI, P. and LINDBLOM, A., Low frequency of hMSH2 mutations in Swedish HNPCC families. Int. J. Cancer, 74, 134-137 (1997).