Preimplantation genetic testing for monogenic disorders to prevent MSH6 germline pathogenic variant related colorectal cancer
Our study revealed a novel MSH6 germline pathogenic variant in CRC and expanded the spectrum of MSH6 variants involved in tumorigenesis. This study provides new insights into CRC caused by MSH6 germline pathogenic variants and demonstrates the potential application of PGT-M technology as an assisted reproductive method to prevent the vertical transmission of hereditary tumors.
Authors
- Jinzhao Ma (ORCID: https://orcid.org/0000-0002-9367-6602)
- 俊之 糸井
- Zheng Zhou (ORCID: https://orcid.org/0000-0002-7828-5283)
- Li Chen (ORCID: https://orcid.org/0000-0002-9650-497X)
- Wenhua Wang (ORCID: https://orcid.org/0000-0002-7682-0860)
- Jie Dong (ORCID: https://orcid.org/0000-0002-1191-767X)
- Cheng Xi (ORCID: https://orcid.org/0000-0002-8120-9409)
- Bing Yao (ORCID: https://orcid.org/0000-0002-5598-9704)
- Hui Chen (ORCID: https://orcid.org/0009-0007-8937-5317)
- Chao Chen (ORCID: https://orcid.org/0000-0003-2197-1992)
Institutions
- Nanjing General Hospital of Nanjing Military Command (CN)
- Second Affiliated Hospital of Nanjing Medical University (CN)
- Nanjing Medical University (CN)
- Nanjing University (CN)
Publication Details
- Journal
- BMC Cancer
- Published
- 2025-07-01
- DOI
- https://doi.org/10.1186/s12885-025-14226-5
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Government of Jiangsu Province