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Cited by 2,276

The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

Open access
Leach, Fredrick S., Nicolaides, Nicholas C., Papadopoulos, Nickolas, Liu, Bo, Jen, Jin, Parsons, Ramon, Peltomäki, Päivi, Sistonen, Pertti, Aaltonen, Lauri A., Nyström-Lahti, Minna, Guan, X.-Y., Zhang, Ji, Meltzer, Paul S., Yu, Jing-Wei, Kao, Fa-Ten, Chen, David J., Cerosaletti, Karen M., Fournier, R.E.Keith, Todd, Sean, Lewis, Tracey, Leach, Robin J., Naylor, Susan L., Weissenbach, Jean, Mecklin, Jukka-Pekka, Järvinen, Heikki, Petersen, Gloria M., Hamilton, Stanley R., Green, Jane, Jass, Jeremy, Watson, Patrice, Lynch, Henry T., Trent, Jeffrey M., de la Chapelle, Albert, Kinzler, Kenneth W., Vogelstein, Bert·1993·Cell
DOI 10.1016/0092-8674(93)90330-s
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Abstract

Recent studies have shown that a locus responsible for hereditary nonpolyposis colorectal cancer (HNPCC) is on chromosome 2p and that tumors developing in these patients contain alterations in microsatellite sequences (RER+ phenotype). We have used chromosome microdissection to obtain highly polymorphic markers from chromosome 2p16. These and other markers were ordered in a panel of somatic cell hybrids and used to define a 0.8 Mb interval containing the HNPCC locus. Candidate genes were then mapped, and one was found to lie within the 0.8 Mb interval. We identified this candidate by virtue of its homology to mutS mismatch repair genes. cDNA clones were obtained and the sequence used to detect germline mutations, including those producing termination codons, in HNPCC kindreds. Somatic as well as germline mutations of the gene were identified in RER+ tumor cells. This mutS homolog is therefore likely to be responsible for HNPCC.

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Metadata

Authors
Leach, F. S., Nicolaides, N. C., Papadopoulos, N., Liu, B., Jen, J., Parsons, R., Peltomäki, P., Sistonen, P., Aaltonen, L. A., Nyström-Lahti, M., Guan, X.-Y., Zhang, J., Meltzer, P. S., Yu, J.-W., Kao, F.-T., Chen, D. J., Cerosaletti, K. M., Fournier, R. E. K., Todd, S., Lewis, T., Leach, R. J., Naylor, S. L., Weissenbach, J., Mecklin, J.-P., Järvinen, H., Petersen, G. M., Hamilton, S. R., Green, J., Jass, J., Watson, P., Lynch, H. T., Trent, J. M., de la Chapelle, A., Kinzler, K. W., & Vogelstein, B.
Venue
Cell
Publisher
Elsevier BV
Published
1993-12
Volume
75
Issue
6
Pages
1215-1225
ISSN
0092-8674 (ISSN-L)
DOI
10.1016/0092-8674(93)90330-s
OpenAlex
W2139964075
Cited by
2,276
References
1
FWCI
140.14
Type
journal article
Language
en
Open access
hybrid

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