Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients

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Mutational 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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Mutational 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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Mutational 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 کامل

Mutational 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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Prevalence of Pathological Germline Mutations of hMLH1 and hMSH2 Genes in Colorectal Cancer

The prevalence of pathological germline mutations in colorectal cancer has been widely studied, as germline mutations in the DNA mismatch repair genes hMLH1 and hMSH2 confer a high risk of colorectal cancer. However, because the sample size and population of previous studies are very different from each other, the conclusions still remain controversial. In this paper, Databases such as PubMed w...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 2000

ISSN: 1468-6244

DOI: 10.1136/jmg.37.7.e7