Is endometrial cancer related to genetics?

1. In recent years, studies have found that this binary classification of endometrial cancer has overlapping molecular characteristics, and some cases are not completely consistent with the pathological characteristics. Therefore, molecular classification is urgently needed to classify endometrial cancer more accurately and conduct subsequent individualized treatment. In 2013, researchers conducted genome sequence testing and divided endometrial cancer into four subtypes based on molecular characteristics, namely TCGA molecular classification, including POLE mutation type, microsatellite instability type, low copy type and high copy type.

2. This molecular classification method has a high predictive value for the prognosis of endometrial cancer and can be combined with traditional classification in clinical practice. Among them, the POLE mutation type has the best prognosis and belongs to the hypermutation group. Studies have shown that this type is more suitable for immune checkpoint inhibitor treatment, while the high copy number type has the worst prognosis and is not sensitive to traditional radiotherapy and chemotherapy. Patients with microsatellite instability should undergo family studies to screen for Lynch syndrome. The low copy number type is not specific and needs further study.

2. This molecular classification method has a high predictive value for the prognosis of endometrial cancer and can be combined with traditional classification in clinical practice. Among them, the POLE mutation type has the best prognosis and belongs to the hypermutation group. Studies have shown that this type is more suitable for immune checkpoint inhibitor treatment, while the high copy number type has the worst prognosis and is not sensitive to traditional radiotherapy and chemotherapy. Patients with microsatellite instability should undergo family studies to screen for Lynch syndrome. The low copy number type is not specific and needs further study.

3. Most endometrial cancers are sporadic, but about 5% are related to genetic factors. The most closely related genetic syndrome is Lynch syndrome, also known as hereditary non-polyposis colorectal cancer syndrome. It is an autosomal dominant genetic disease caused by mismatch repair gene mutations and is related to the onset of endometrial cancer in young women.