A novel missense mutation in the DNA mismatch repair gene hMLH1 present among East Asians but not among Europeans

Human Heredity

Volumn 48, Issue 2, 1998, Pages 87-91

  Wang, Taping ^a   Friedl, Waltraut ^a,b   Lamberti, Christof ^a   Nöthen, Markus M ^a   Kruse, Roland ^a   Propping, Peter ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

Ethnic difference; hMLH1 gene; HNPCC; Missense mutation

Indexed keywords

ADULT; ARTICLE; ASIAN; BASE MISPAIRING; CANCER GENETICS; CHINESE; COLORECTAL CANCER; CONTROLLED STUDY; DNA REPAIR; DNA SEQUENCE; ETHNIC DIFFERENCE; EUROPE; GENETIC POLYMORPHISM; GERMANY; HUMAN; HUMAN CELL; JAPAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; POPULATION GENETICS;

EID: 6844257547     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022786     Document Type: Article

References (12)

1. de la Chapelle A, Peltomaki P: Genetics of hereditary colon cancer. Annu Rev Genet 1995;29:329-348.
2. Kinzler KW, Vogelstein B: Lessons from hereditary colorectal cancer. Cell 1996;87:159-170.
3. Liu B, Parsons R, Papadopoulos N, Nicolaides NC, Lynch HT, Watson P, Jass JR, Dunlop M, Wyllie A, Peltomäki P, de la Chapelle A, Hamilton SR, Vogelstein B, Kinzler KW: Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients Nat Med 1996;92: 169-174.
4. Scott RJ: DNA mismatch repair and hereditary nonpolyposis colorectal cancer. Onkologie 1997;20:42-47.
5. Liu B, Farrington SM, Petersen GM, Hamilton SR, Parsons R, Papadopoulos N, Fujiwara T, Jen J, Kinzler KW, Wyllie AH, Vogelstein B, Dunlop MG: Genetic instability occurs in the majority of young patients with colorectal cancer. Nat Med 1995;1:348-352.
6. Liu B, Nicolaides NC, Markowitz S, Willson JKV, Parsons RE, Jen J, Papadopoutos N, Peltomäki P, de la Chapelle A, Hamilton SR, Kinzler KW, Vogelstein B: Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability Nat Genet 1995;9:48-55.
7. Tomlinson IPM, Beck NE, Homfray T, Harocopos CJ, Bodmer WF: Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. J Med Genet 1997;34:39-42.
8. Wang Y, Friedl W, Lamberti C, Ruelfs C, Kruse R, Propping P: Hereditary nonpolyposis colorectal cancer: Causative role of a germline missense mutation in the hMLH1 gene confirmed by independent occurrence of the same somatic mutation in tumour tissue. Hum Genet 1997;100:362-364.
9. Kolodner RD, Hall NR, Lipford J, Kane MF, Morrison PT, Finan PJ, Burn J, Chapman P, Earabino C, Merchant E, Bishop DT: Structure of the human MLH1 locus and analysis of a large hereditary nonpolysis colorectal carcinoma kindred for mlh1 mutation. Cancer Res 1995; 55:242-248.
10. Wehner M, Buschhausen L, Lamberti C, Kruse R, Caspari R, Propping P, Friedl W: Hereditary non-polyposis colorectal cancer (HNPCC): Eight novel germline mutations in the hMSH2 or hMLH1 genes. Hum Mutat 1997;10:241-244.
11. 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, Nordenskjold M, Fishel R, Kolodner R, Liskay RM: Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994;368:258-261.
12. Papadopoulos N, Nicolaides NC, Wie Y-F, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Hamilton SR, Petersen GM, Watson P, Lynch HT, Peltomäki P, Mecklin J-P, de la Chapelle A, Kinzier KW, Volgelstein B: Mutation of a mutl homolog in hereditary colon cancer. Science 1994;263: 1625-1629.