Low prevalence of germline hMSH6mutations in colorectal cancer families from Spain

• 作 者: Ana Sánchez de Abajo Migu
• 机 构: LaboratoriodeOncologí,aMolecular,ServiciodeAnatomfaPatoló,gica,ServiciodeOncologfaMé,dic
• 出 处: 世界胃肠病学杂志：英文版（电子版）
• 发表日期: 2005年37期
• 关键词: 基因突变 HMSH6 结肠癌 直肠癌 西班牙 遗传因素 HNPCC MMR hMSH6 MSI IHC SPANISH
• 基金项目: The Instituto Nacional Carlos Ⅲ，Fondo de Investigación Sanitaria

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.RESUL