A rare subtype of lynch syndrome familial with co-mutation of EpCAM c.344T>C, MSH2 c.2744A>G, PMS2 c.1408C>T and APC c.5465T>A, case report and literature review
This rare subtype of LS emphasizes the need for comprehensive genetic screening and may inform future strategies for early detection and management in LS families. Further studies are required to confirm these findings.
Authors
- Guiyu Lu
- Jian Dong (ORCID: https://orcid.org/0000-0002-2643-0370)
- Xiu‐Feng Wan (ORCID: https://orcid.org/0000-0003-2629-9234)
- Chao Deng (ORCID: https://orcid.org/0000-0002-3672-0056)
- Tengyue Hu (ORCID: https://orcid.org/0000-0001-6818-8394)
- Xianshuo Cheng (ORCID: https://orcid.org/0000-0003-3760-4767)
- Zihan Wang (ORCID: https://orcid.org/0000-0002-6553-6805)
- Ting Pan (ORCID: https://orcid.org/0009-0009-2036-303X)
Institutions
- Kunming Medical University (CN)
- Zigong First People's Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-10-14
- DOI
- https://doi.org/10.3389/fgene.2025.1667899
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China