Objective: To gain an insight into the large intragenic hMSH2 and hMLH1 deletions in Chinese hereditary nonpolyposis colorectal cancer (HNPCC) families.
Method: The large intragenic hMSH2 and hMLH1 deletions in 17 probands of HNPCC families were detected with multiplex ligation-dependent probe Three large intragenic hMSH2 deletions of examplification (MLPA) and GeneMapper techniques.
Results: on 8, exon 1-6, and exon 1-7 were found in three families respectively, and no hMLH1 deletion was found. The deletions accounted for 19% of the total hMSH2 and hMLHI germline pathogenic mutations.
Conclusions: The incidence of large intragenic mismatch repair (MMR) genes deletions is relatively higher in Chinese families, and hMSH2 deletions may be more common. It is necessary to detect the large intragenic MMR genes deletions in the molecular detection of HNPCC.
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- A study identified a specific genetic mutation, a large deletion in the FANCA gene, as a common cause among eight individuals from six unrelated Turkish families, highlighting the importance of genetic research in understanding the disease.
- The researchers developed a simple PCR test for this mutation, facilitating accurate diagnosis and genetic counseling for affected individuals and their families, especially in the Turkish population.
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