Year: 2025
Type: article
Study design: Case Report
Abstract: Background Endometrial cancer is a common cancer in women, partially linked to defects in mismatch repair function. Besides the well-known mismatch repair proteins, the MLH3 gene may also contribute to cancer susceptibility. Case presentation In this case report, we reported that two related mothers and daughters had mutations in some of their germline genes, with MLH3 as a possible low-risk gene for endometrial cancer, which we further explored as contributing to the development of endometrial cancer. Conclusions This case identifies germline heterozygous mutations in two patients, suggesting a potential role for MLH3 in endometrial carcinogenesis, which may act as a low-risk factor to increase the risk of tumor susceptibility and does not rule out the possibility of synergistic increases in pathogenicity with other genes.
Source: Frontiers in Oncology
Authors: Changlin Zhang, Jiaying Ye, Qiaqia Li, Jijie Zhan, Dong Yang, Jundong Li, Tian Li, Ting Wan
Language: English
Subfield: Pathology and Forensic Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W4409864252