We identified a Japanese patient with Lynch syndrome with a novel large germline deletion of chromosome 2p16-21, including the EPCAM, MSH2, and KCNK12 genes. The proband was a 46-year-old man with ascending colon cancer. The clinical significance of germline KCNK12 gene deletion, which encodes one of the subfamilies of two-pore-domain potassium channels, is still unknown.

中文翻译：

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与 Lynch 综合征相关的染色体 2p16-21 的种系缺失

我们确定了一名患有林奇综合征的日本患者，其染色体 2p16-21 的新的大种系缺失，包括EPCAM、MSH2和KCNK12基因。先证者是一名患有升结肠癌的 46 岁男性。种系KCNK12基因缺失（编码双孔结构域钾通道亚家族之一）的临床意义仍然未知。