Germline deletion of chromosome 2p16-21 associated with Lynch syndrome-Reference-Cited by-同舟云学术

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

Published:2021-05-19 Issue:1 Volume:8 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Natsume Soichiro,Yamaguchi Tatsuro^ORCID,Eguchi Hidetaka,Okazaki Yasushi^ORCID,Horiguchi Shin-ichiro,Ishida Hideyuki

Abstract

AbstractWe 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.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://www.nature.com/articles/s41439-021-00152-y.pdf

Reference17 articles.

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3. Niessen, R. C. et al. Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. Genes Chromosomes Cancer 48, 737–744 (2009).

4. Kuiper, R. P. et al. Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum. Mutat. 32, 407–414 (2011).

5. Eguchi, H. et al. Identification of a Japanese Lynch syndrome patient with large deletion in the 3’ region of the EPCAM gene. JJCO 46, 178–184 (2016).

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