Follow-up of hereditary endometrial carcinoma caused by gene mutation: a case report.

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 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 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 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.