Research progress on hereditary endometrial cancer

Endometrial cancer is one of the most common malignant tumors of the female reproductive system. In many developed countries, its incidence rate has continued to rise. In recent years, it has ranked first among gynecological malignancies. Among female malignant tumors, its incidence rate ranks only after lung cancer, breast cancer, and colorectal cancer, and its mortality rate ranks ninth. In the eastern region of my country, where the economic level is high, the incidence rate of endometrial cancer has also increased significantly in recent years, and its incidence rate in the spectrum of tumor diseases is gradually approaching that of cervical cancer.

In the United States, for example, in 1996, there were about 34,000 new cases and about 6,000 deaths from the disease. However, by 2013, there were about 52,600 new cases and 8,200 deaths. There have been many reports on high-risk factors for endometrial cancer, such as obesity, anovulation, delayed menopause, and the use of exogenous estrogen.

In recent years, research on the family history of patients with endometrial cancer has received increasing attention. Among hereditary gynecological malignancies, it has been basically confirmed that hereditary ovarian cancer is divided into three types: specific site ovarian cancer, hereditary breast cancer/ovarian cancer syndrome; hereditary non-polyposis colorectal cancer (this warm male doctor will report it in another article). Although LYNCH et al. have reported on the genetics of endometrial cancer, it has not been until the past decade that research on familial endometrial cancer has gradually received attention. In 2014, SGO (Society of Gynecologic Oncology) clearly stipulated that all patients diagnosed with endometrial cancer need to undergo a systematic review of their personal and family history and molecular screening to evaluate the possibility of hereditary endometrial cancer.

Suomi et al. divided endometrial cancer into 4 types based on family history:

1. Negative family history: that is, there are no relatives with malignant tumors.

2. Non-specific tumor clustering: 2-3 relatives of the same generation or two generations suffer from different types of malignant tumors, but there are no characteristics of familial or hereditary tumors.

3. Familial tumors: There are 3 or more tumor patients in two or more consecutive generations of relatives, and there is a possibility of autosomal phenotype inheritance, but the location and age of onset of the tumor do not meet the characteristics of hereditary tumors.

4. Hereditary tumors: At least three first-degree relatives in two or more consecutive generations suffer from endometrial cancer or colorectal cancer, showing autosomal dominant inheritance, and at least one patient is less than 50 years old when diagnosed.