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: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2021-05-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-021-00152-y |