Systematic Analysis of hMSH2 and hMLH1 in Young Colon Cancer Patients and Controls
نویسندگان
چکیده
منابع مشابه
Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
Germ-line mutations in DNA mismatch-repair genes impart a markedly elevated cancer risk, often presenting as autosomal dominant hereditary nonpolyposis colorectal cancer (HNPCC). However, there are no pathognomonic features of HNPCC, not all gene carriers have a family history of the disease, and families fulfilling the Amsterdam criteria are relatively uncommon. Genetic testing of probands wit...
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15 صفحه اولMutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients
EDITOR—Hereditary non-polyposis colorectal cancer (HNPCC) is a heterogeneous autosomal dominant disease with incomplete penetrance. The frequency is estimated at 1:200/1:1000. HNPCC results from constitutional mutation in one of the five human mismatch repair genes (MMR) that have so far been implicated: hMSH2, hMLH1, hPMS1, hPMS2, and hMSH6. 2 hMSH2 and hMLH1 account for the majority of mutati...
متن کاملMutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients
EDITOR—Hereditary non-polyposis colorectal cancer (HNPCC) is a heterogeneous autosomal dominant disease with incomplete penetrance. The frequency is estimated at 1:200/1:1000. HNPCC results from constitutional mutation in one of the five human mismatch repair genes (MMR) that have so far been implicated: hMSH2, hMLH1, hPMS1, hPMS2, and hMSH6. 2 hMSH2 and hMLH1 account for the majority of mutati...
متن کاملMutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.
EDITOR—Hereditary non-polyposis colorectal cancer (HNPCC) is a heterogeneous autosomal dominant disease with incomplete penetrance. The frequency is estimated at 1:200/1:1000. HNPCC results from constitutional mutation in one of the five human mismatch repair genes (MMR) that have so far been implicated: hMSH2, hMLH1, hPMS1, hPMS2, and hMSH6. 2 hMSH2 and hMLH1 account for the majority of mutati...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1998
ISSN: 0002-9297
DOI: 10.1086/301996