Germline deletion of chromosome 2p16-21 associated with Lynch syndrome
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 enco...
Main Authors: | , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2021-05-01
|
Series: | Human Genome Variation |
Online Access: | https://doi.org/10.1038/s41439-021-00152-y |