DNA mismatch repair gene mutations in human cancer.
نویسندگان
چکیده
منابع مشابه
DNA mismatch repair gene mutations in human cancer.
A new pathogenetic mechanism leading to cancer has been delineated in the past 3 years when human homologues of DNA mismatch repair (MMR) genes have been identified and shown to be involved in various types of cancer. Germline mutations of MMR genes cause susceptibility to a hereditary form of colon cancer, hereditary nonpolyposis colon cancer (HNPCC), which represents one of the most common sy...
متن کاملCancer risk associated with germline DNA mismatch repair gene mutations.
The autosomal dominant syndrome of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) is due to germline DNA mismatch repair gene mutations in most cases. However, the penetrance of such mutations outwith classical HNPCC kindreds is unknown because families studied to date have been specifically selected for research purposes. Using a population-based strategy, we have calculated the lifetime ca...
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Gastrointestinal malignancies are extremely rare in the pediatric population, and duodenal cancers represent an even more unusual entity. Intestinal cancers in young adults and children have been observed to be associated with functional deficiencies of the mismatch repair (MMR) system causing a cancer-predisposition syndrome. We report the case of a 16-year-old female with duodenal adenocarcin...
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De novo mutations Carriers of a germline mutation in a DNA mismatch repair (MMR) gene, i.e. persons with Lynch syndrome, have substantially high risks of colorectal, endometrial, and several other cancers. The proportion of carriers who have de novo mutations (not inherited from either parent) is not known. Of 261 probands (202 clinicbased, 59 population-based) with MMR gene mutations for whom ...
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ژورنال
عنوان ژورنال: Environmental Health Perspectives
سال: 1997
ISSN: 0091-6765,1552-9924
DOI: 10.1289/ehp.105-1470030