Certain pMMR colorectal cancer patients should undergo additional MSI-PCR testing to reduce the risk of misdiagnosing MSI-H and Lynch syndrome
We recommend supplemental MSI-PCR testing for pMMR CRC patients with right colon OR PIK3CA E20 mutation. For those with MSI-H results, subsequent NGS should be performed to identify germline mutations in LS-associated genes.
Authors
- Weihao Deng (ORCID: https://orcid.org/0009-0001-2287-0061)
- Xiaoli Tan (ORCID: https://orcid.org/0000-0001-5688-7622)
- Hanjie Lin
- Yacheng Cai
- Jinglin Huang (ORCID: https://orcid.org/0000-0001-6316-5898)
- Chao Wang (ORCID: https://orcid.org/0000-0001-5453-3927)
- Xinhui Fu (ORCID: https://orcid.org/0000-0003-1821-2995)
- Zhiting Chen (ORCID: https://orcid.org/0000-0003-1495-4772)
- Liang Xu (ORCID: https://orcid.org/0000-0001-8697-7098)
Institutions
- Sun Yat-sen University (CN)
- Sixth Affiliated Hospital of Sun Yat-sen University (CN)
Publication Details
- Journal
- BMC Cancer
- Published
- 2025-07-01
- DOI
- https://doi.org/10.1186/s12885-025-14484-3
- Citations
- 4
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 5.89
Funders
- National Natural Science Foundation of China