
Mismatch repair deficiency in phenotypically normal human cells.
Publication
, Journal Article
Parsons, R; Li, GM; Longley, M; Modrich, P; Liu, B; Berk, T; Hamilton, SR; Kinzler, KW; Vogelstein, B
Published in: Science
May 5, 1995
Tumor cells in patients with hereditary nonpolyposis colorectal cancer (HNPCC) are characterized by a genetic hypermutability caused by defects in DNA mismatch repair. A subset of HNPCC patients was found to have widespread mutations not only in their tumors, but also in their non-neoplastic cells. Although these patients had numerous mutations in all tissues examined, they had very few tumors. The hypermutability was associated with a profound defect in mismatch repair at the biochemical level. These results have implications for the relation between mutagenesis and carcinogenesis, and they suggest that mismatch repair deficiency is compatible with normal human development.
Duke Scholars
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Published In
Science
DOI
ISSN
0036-8075
Publication Date
May 5, 1995
Volume
268
Issue
5211
Start / End Page
738 / 740
Location
United States
Related Subject Headings
- Repetitive Sequences, Nucleic Acid
- Phenotype
- Mutation
- Molecular Sequence Data
- Lymphocytes
- Intestinal Mucosa
- Humans
- General Science & Technology
- DNA, Satellite
- DNA Repair
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NLM
Parsons, R., Li, G. M., Longley, M., Modrich, P., Liu, B., Berk, T., … Vogelstein, B. (1995). Mismatch repair deficiency in phenotypically normal human cells. Science, 268(5211), 738–740. https://doi.org/10.1126/science.7632227
Parsons, R., G. M. Li, M. Longley, P. Modrich, B. Liu, T. Berk, S. R. Hamilton, K. W. Kinzler, and B. Vogelstein. “Mismatch repair deficiency in phenotypically normal human cells.” Science 268, no. 5211 (May 5, 1995): 738–40. https://doi.org/10.1126/science.7632227.
Parsons R, Li GM, Longley M, Modrich P, Liu B, Berk T, et al. Mismatch repair deficiency in phenotypically normal human cells. Science. 1995 May 5;268(5211):738–40.
Parsons, R., et al. “Mismatch repair deficiency in phenotypically normal human cells.” Science, vol. 268, no. 5211, May 1995, pp. 738–40. Pubmed, doi:10.1126/science.7632227.
Parsons R, Li GM, Longley M, Modrich P, Liu B, Berk T, Hamilton SR, Kinzler KW, Vogelstein B. Mismatch repair deficiency in phenotypically normal human cells. Science. 1995 May 5;268(5211):738–740.

Published In
Science
DOI
ISSN
0036-8075
Publication Date
May 5, 1995
Volume
268
Issue
5211
Start / End Page
738 / 740
Location
United States
Related Subject Headings
- Repetitive Sequences, Nucleic Acid
- Phenotype
- Mutation
- Molecular Sequence Data
- Lymphocytes
- Intestinal Mucosa
- Humans
- General Science & Technology
- DNA, Satellite
- DNA Repair