Title |
Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability
|
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Published in |
Nature Genetics, January 1995
|
DOI | 10.1038/ng0195-48 |
Pubmed ID | |
Authors |
Bo Liu, Nicholas C. Nicolaides, Sanford Markowitz, James K.V. Willson, Ramon E. Parsons, Jin Jen, Nickolas Papadopolous, Päivi Peltomäki, Albert de la Chapelle, Stanley R. Hamilton, Kenneth W. Kinzler, Bert Vogelstein |
Abstract |
Microsatellite instability has been observed in both sporadic and hereditary forms of colorectal cancer. In the hereditary form, this instability is generally due to germline mutations in mismatch repair (MMR) genes. However, only one in ten patients with sporadic tumours exhibiting microsatellite instability had a detectable germline mutation. Moreover, only three of seven sporadic tumour cell lines with microsatellite instability had mutations in a MMR gene, and these mutations could occur somatically. These results demonstrate that tumours can acquire somatic mutations that presumably do not directly affect cell growth but result only in genetic instability. They also suggest that many sporadic tumours with microsatellite instability have alterations in genes other than the four now known to participate in MMR. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Switzerland | 2 | 2% |
United Kingdom | 1 | <1% |
Portugal | 1 | <1% |
Finland | 1 | <1% |
Unknown | 111 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 23 | 20% |
Researcher | 17 | 15% |
Student > Bachelor | 14 | 12% |
Student > Master | 13 | 11% |
Student > Postgraduate | 8 | 7% |
Other | 25 | 22% |
Unknown | 16 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 50 | 43% |
Biochemistry, Genetics and Molecular Biology | 19 | 16% |
Medicine and Dentistry | 18 | 16% |
Pharmacology, Toxicology and Pharmaceutical Science | 4 | 3% |
Mathematics | 1 | <1% |
Other | 6 | 5% |
Unknown | 18 | 16% |