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

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

doi:10.1038/s41439-021-00152-y

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

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

Authors

Soichiro Natsume¹, Tatsuro Yamaguchi^{2

3}, Hidetaka Eguchi⁴, Yasushi Okazaki⁴, Shin-Ichiro Horiguchi⁵, Hideyuki Ishida⁶

Affiliations

¹ Department of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.
² Department of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan. [email protected].
³ Department of Clinical Genetics, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan. [email protected].
⁴ Diagnosis and Therapeutics of Intractable Diseases and Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan.
⁵ Department of Pathology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.
⁶ Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Kawagoe, Japan.

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.