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Mutation in the mismatch repair gene Msh6 causes cancer susceptibility.

Publication ,  Journal Article
Edelmann, W; Yang, K; Umar, A; Heyer, J; Lau, K; Fan, K; Liedtke, W; Cohen, PE; Kane, MF; Lipford, JR; Yu, N; Crouse, GF; Pollard, JW ...
Published in: Cell
November 14, 1997

Mice carrying a null mutation in the mismatch repair gene Msh6 were generated by gene targeting. Cells that were homozygous for the mutation did not produce any detectable MSH6 protein, and extracts prepared from these cells were defective for repair of single nucleotide mismatches. Repair of 1, 2, and 4 nucleotide insertion/deletion mismatches was unaffected. Mice that were homozygous for the mutation had a reduced life span. The mice developed a spectrum of tumors, the most predominant of which were gastrointestinal tumors and B- as well as T-cell lymphomas. The tumors did not show any microsatellite instability. We conclude that MSH6 mutations, like those in some other members of the family of mismatch repair genes, lead to cancer susceptibility, and germline mutations in this gene may be associated with a cancer predisposition syndrome that does not show microsatellite instability.

Duke Scholars

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Published In

Cell

DOI

ISSN

0092-8674

Publication Date

November 14, 1997

Volume

91

Issue

4

Start / End Page

467 / 477

Location

United States

Related Subject Headings

  • RNA, Messenger
  • Neoplasms
  • Mutation
  • Molecular Sequence Data
  • Microsatellite Repeats
  • Mice, Mutant Strains
  • Mice
  • Male
  • Lymphoma
  • Homozygote
 

Citation

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Edelmann, W., Yang, K., Umar, A., Heyer, J., Lau, K., Fan, K., … Kucherlapati, R. (1997). Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. Cell, 91(4), 467–477. https://doi.org/10.1016/s0092-8674(00)80433-x
Edelmann, W., K. Yang, A. Umar, J. Heyer, K. Lau, K. Fan, W. Liedtke, et al. “Mutation in the mismatch repair gene Msh6 causes cancer susceptibility.Cell 91, no. 4 (November 14, 1997): 467–77. https://doi.org/10.1016/s0092-8674(00)80433-x.
Edelmann W, Yang K, Umar A, Heyer J, Lau K, Fan K, et al. Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. Cell. 1997 Nov 14;91(4):467–77.
Edelmann, W., et al. “Mutation in the mismatch repair gene Msh6 causes cancer susceptibility.Cell, vol. 91, no. 4, Nov. 1997, pp. 467–77. Pubmed, doi:10.1016/s0092-8674(00)80433-x.
Edelmann W, Yang K, Umar A, Heyer J, Lau K, Fan K, Liedtke W, Cohen PE, Kane MF, Lipford JR, Yu N, Crouse GF, Pollard JW, Kunkel T, Lipkin M, Kolodner R, Kucherlapati R. Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. Cell. 1997 Nov 14;91(4):467–477.
Journal cover image

Published In

Cell

DOI

ISSN

0092-8674

Publication Date

November 14, 1997

Volume

91

Issue

4

Start / End Page

467 / 477

Location

United States

Related Subject Headings

  • RNA, Messenger
  • Neoplasms
  • Mutation
  • Molecular Sequence Data
  • Microsatellite Repeats
  • Mice, Mutant Strains
  • Mice
  • Male
  • Lymphoma
  • Homozygote