The relationship between lynch syndrome and endometrial cancer

Lynch syndrome is closely related to endometrial cancer. Patients with Lynch syndrome have a significantly higher risk of developing endometrial cancer than the general population. This is because the DNA mismatch repair gene mutation associated with this syndrome leads to abnormal cell proliferation, thereby increasing the chance of cancer.

Lynch syndrome is an autosomal dominant genetic disease mainly caused by mutations in genes such as MLH1, MSH2, MSH6 and PMS2. Defects in these genes interfere with the DNA mismatch repair function, resulting in incorrect accumulation of genetic material, which interferes with normal cell growth and easily causes cancer. Among them, endometrial cancer is the second most common cancer associated with Lynch syndrome, and about 40%-60% of female patients will develop endometrial cancer in their lifetime. Some environmental factors such as poor eating habits and obesity may also further promote the occurrence of carcinogenesis. Patients with Lynch syndrome usually develop symptoms of endometrial cancer earlier, and typical manifestations include abnormal uterine bleeding (outside of menstrual period) and abdominal pain, but because the symptoms are non-specific, they must be confirmed through genetic testing and histopathological examination.

For the prevention and management of endometrial cancer in patients with Lynch syndrome, regular screening is recommended first, including annual transvaginal ultrasound or endometrial biopsy to detect suspicious lesions as early as possible. For patients with confirmed endometrial cancer, treatment strategies include surgical resection (such as hysterectomy), drug therapy (such as adjuvant chemotherapy with platinum-containing chemotherapy drugs), and targeted immunotherapy (such as PD-1 inhibitors). Patients of childbearing age can explore treatment measures to preserve fertility if conditions permit, but the risks need to be fully assessed and monitored in advance. Family members of Lynch syndrome are advised to receive genetic counseling to clarify potential genetic risks.

Maintaining a healthy weight, reducing the intake of high-fat and high-sugar foods, and avoiding smoking and limiting alcohol consumption can reduce the risk of additional cancer. Regular exercise and maintaining a good mental state are essential for comprehensive health management. Those with a clear family history of Lynch syndrome should proactively consult a doctor and consider early detection and intervention to reduce the urgent risk of uterine cancer.