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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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| Publicado no: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8134480/ https://ncbi.nlm.nih.gov/pubmed/34012011 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00152-y |
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