Hereditary nonpolyposis colorectal cancer (HNPCC): Eight novel germline mutations in hMSH2 or hMLH1 genes

Human Mutation

Volumn 10, Issue 3, 1997, Pages 241-244

  Wehner, Martin ^a   Buschhausen, Lutz ^a   Lamberti, Christof ^a   Kruse, Roland ^a   Caspari, Reiner ^a   Propping, Peter ^a   Friedl, Waltraut ^a,b  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; DNA; HETERODUPLEX; PHENYLALANINE;

ARTICLE; CLINICAL ARTICLE; CODON; COLORECTAL TUMOR; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HUMAN; INTRON; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030768854     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1997)10:3<241::aid-humu12>3.0.co;2-%23     Document Type: Article

References (7)

1. Aaltonen LA, Peltomäki P, Leach FS, Sistonen P, Pylkkänen L, Mecklin J-P, Järvinen H, Powell SM, Jen J, Hamilton SR, Petersen GM, Kinzler KW, Vogelstein B, de la Chapelle A (1993) Clues to the pathogenesis of familial colorectal cancer. Science 260:812-816.
2. 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, Nordenskjöld M, Fishel R, Kolodner R, Liskay RM (199-4) Mutation in the mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368:258-261.
3. Buerstedde J-M, Alday P, Torhorst J, Weber W, Müller W, Scott R (1995) 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.
4. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75:1027-1038.
5. Friedl W, Mandl M, Sengteller M (1994) Single-step screening method for the most common mutations in familial adenomatous polyposis. Hum Mol Genet 2:1481-1482.
6. Han H-J, Maruyama M, Baba S, Park J-G, Nakamura Y (1995) Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC). Hum Mol Genet 4:237-242.
7. Kolodner RD, Hall NR, Lipford J, Kane MF, Morrison P, Finan PJ, Burn J, Chapman P, Earabino C, Merchant E, Bishop DT (1995) Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. Cancer Res 55:242-248.