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

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 o...

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Detalles Bibliográficos
Autores principales: Natsume, Soichiro, Yamaguchi, Tatsuro, Eguchi, Hidetaka, Okazaki, Yasushi, Horiguchi, Shin-ichiro, Ishida, Hideyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8134480/
https://www.ncbi.nlm.nih.gov/pubmed/34012011
http://dx.doi.org/10.1038/s41439-021-00152-y
Descripción
Sumario: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.

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