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首页> 外文期刊>World Journal of Gastroenterology >Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain.
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Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain.

机译：西班牙大肠癌家庭中生殖系hMSH6突变的患病率较低。

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摘要

AIM: To investigate the prevalence and penetrance of hMSH6 mutations in Spanish HNPCC families that was negative for mutation in hMLH1 or hMSH2. METHODS: We used PCR-based DGGE assay and direct sequencing to screen for hMSH6 gene in 91 HNPCC families. RESULTS: we have identified 10 families with germ-line mutations in the DNA sequence. These mutations included two intronic variation, three missense mutation, one nonsense mutation, and four silent mutations. Among the 10 germ-line mutations identified in the Spanish cohort, 8 were novel, perhaps, suggesting different mutational spectra in the Spanish population. Detailed pedigrees were constructed for the three families with a possible pathogenic hMSH6 mutation. The two silent mutations H388H and L758L, detected in a person affected of colorectal cancer at age 29, produce loss of the wild-type allele in the tumor sample. Immunohistochemical analysis showed that expression of MSH6 protein was lost only in the tumors from the carriers of V878A and Q263X mutations. CONCLUSION: Altogether, our results indicate that disease-causing germ-line mutations of hMSH6 are very less frequent in Spanish HNPCC families.
机译：目的：调查在西班牙HNPCC家族中hMSH6突变的发生率和渗透率，这些突变对hMLH1或hMSH2的突变呈阴性。方法：我们使用基于PCR的DGGE分析和直接测序来筛选91个HNPCC家族中的hMSH6基因。结果：我们鉴定出10个DNA序列中具有种系突变的科。这些突变包括两个内含子变异，三个错义突变，一个无意义突变和四个沉默突变。在西班牙人群中鉴定出的10个种系突变中，有8个是新颖的，可能暗示了西班牙人群中不同的突变谱。为三个可能有致病性hMSH6突变的家族构建了详细的谱系。在29岁的大肠癌患者中检测到的两个沉默突变H388H和L758L导致肿瘤样品中野生型等位基因的缺失。免疫组织化学分析表明，MSH6蛋白的表达仅在V878A和Q263X突变携带者的肿瘤中丢失。结论：总的来说，我们的结果表明，在西班牙HNPCC家庭中，hMSH6的致病种系突变非常少见。

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