A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review
This study provides evidence that the <i>MSH2</i> nonsense mutation c.354T>A is a highly likely pathogenic mutation and is responsible for typical LS-associated endometrial carcinoma. It emphasizes the importance of genetic counseling for proband family members to facilitate early diagnosis of LS-related carcinoma.
Authors
- Lan Zhong (ORCID: https://orcid.org/0000-0002-4035-6285)
- Zhanghuan Li
- Liang Song (ORCID: https://orcid.org/0000-0002-3817-7253)
- Qintong Li (ORCID: https://orcid.org/0000-0002-8447-9770)
- Rutie Yin (ORCID: https://orcid.org/0000-0002-9221-6727)
- Yuanqiong Duan (ORCID: https://orcid.org/0000-0002-5455-1444)
- Wenxiang Wang (ORCID: https://orcid.org/0000-0001-7297-3387)
- Kaixuan Yang
Institutions
- Sichuan University (CN)
- West China Second University Hospital of Sichuan University (CN)
- Xinxiang Central Hospital (CN)
- Henan Medical University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-10-07
- DOI
- https://doi.org/10.3389/fgene.2024.1440179
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Wu Jieping Medical Foundation