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.

Details

Title
Germline deletion of chromosome 2p16-21 associated with Lynch syndrome
Author
Natsume Soichiro 1 ; Yamaguchi Tatsuro 2   VIAFID ORCID Logo  ; Eguchi Hidetaka 3 ; Okazaki Yasushi 3   VIAFID ORCID Logo  ; Horiguchi Shin-ichiro 4 ; Ishida Hideyuki 5 

1  Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Department of Surgery, Tokyo, Japan (GRID:grid.415479.a) 
2  Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Department of Surgery, Tokyo, Japan (GRID:grid.415479.a); Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Department of Clinical Genetics, Tokyo, Japan (GRID:grid.415479.a) 
3  Juntendo University Graduate School of Medicine, Diagnosis and Therapeutics of Intractable Diseases and Intractable Disease Research Center, Tokyo, Japan (GRID:grid.258269.2) (ISNI:0000 0004 1762 2738) 
4  Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Department of Pathology, Tokyo, Japan (GRID:grid.415479.a) 
5  Saitama Medical University, Department of Digestive Tract and General Surgery, Saitama Medical Center, Kawagoe, Japan (GRID:grid.410802.f) (ISNI:0000 0001 2216 2631) 
Publication year
2021
Publication date
2021
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-021-00152-y
ProQuest document ID
2529006617
Copyright
© The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.