Diagnostic method employing MSH2 protein

Details Diagnostic method employing MSH2 protein Diagnostic method employing MSH2 protein

1995-06-01

1998-11-17

Wax, Robert A.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

435 405, 530350, C12Q 125, C07K 1447

Patent

active

058374434

ABSTRACT:
The human MSH2 gene, responsible for hereditary non-polyposis colorectal cancer, was identified by virtue of its homology to the MutS class of genes, which are involved in DNA mismatch repair. The sequence of cDNA clones of the human gene are provided, and the sequence of the gene can be used to demonstrate the existence of germ line mutations in hereditary non-polyposis colorectal cancer (HNPCC) kindreds, as well as in replication error.sup.+ (RER.sup.+) tumor cells.

REFERENCES:
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Strand et al., "Destabilization of Tracts of Simple Repetitive DNA in Yeast by Mutations Affecting DNA Mismatch Repair", Nature, 365:274-276 (1993).
Kunkel, "Slippery DNA and Diseases", Nature, 365:207-208 (1993).
Parsons, et al., "Hypermutability and Mismatch Repair Deficiency in RER+ Tumor Cells", Cell, 75:1227-1236 (1993).
Paivi Peltomaki, et al., Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer, Science, vol. 260, 7 May 1993 pp. 810-812.
Lauri A. Aaltonen, et al., Clues to the Pathogenesis of Familial Colorectal Cancer, Science, vol. 260, 7 May 1993, pp. 812-816.
S.N. Thibodeau, et al., Microsatellite Instability in Cancer of the Proximal Colon, Science, vol. 260, 7 May 1993, 816-819.
Rick Weise, Gene for Colon Cancer Identified, Scientists Foresee Simple Blood Test for Hereditary Forms of Disease, Washington Post, Dec. 3, 1993.

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