与林奇综合征相关的2号染色体p16 - 21区域的种系缺失。

Germline deletion of chromosome 2p16-21 associated with Lynch syndrome.

作者信息

Natsume Soichiro, Yamaguchi Tatsuro, Eguchi Hidetaka, Okazaki Yasushi, Horiguchi Shin-Ichiro, Ishida Hideyuki

机构信息

Department of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.

Department of Clinical Genetics, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.

出版信息

Hum Genome Var. 2021 May 19;8(1):19. doi: 10.1038/s41439-021-00152-y.

DOI:10.1038/s41439-021-00152-y

PMID:34012011

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8134480/

Abstract

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.

摘要

我们鉴定出一名患有林奇综合征的日本患者，其2号染色体p16 - 21区域存在一个新的大片段种系缺失，包括EPCAM、MSH2和KCNK12基因。先证者是一名46岁的升结肠癌男性。种系KCNK12基因缺失的临床意义仍不清楚，该基因编码双孔域钾通道亚家族之一。