Most uterine cancers are sporadic with no inherited genetic risk. 5-10% of endometrial cancers can be the result of an inherited mutation in either MLH1, MLH2, MSH6, or PMS2 genes which are diagnostic of Lynch Syndrome. People with Lynch Syndrome have increased risks of multple types of cancers including endometrial and ovarian. If you are diagnosed with endometrial cancer, be sure to ask your doctor if they tested for Lynch Syndrome. A very small subset of patients with serous endometrial cancer could have an inherited underlying BRCA1 mutation as the cause of their disease, however no clear guidelines for genetic testing for BRCA1 mutations exist. Uterine sarcomas are almost never associated with an inherited genetic mutation.
Follow up after treatment
The frequency of exams, imaging, and blood tests varies because of many factors. Typically, you will be followed every 3 to 6 months for the first 2 years with at least an examination of the vagina and rectum to detect any recurrences early at the most curable stage. These examinations will occur less frequently thereafter. In addition, imaging studies such as x-rays, CT scans, or MRIs may be periodically performed, especially if you have any new pains or symptoms. The top of the vagina is the most common site of recurrent endometrial cancer, and patients will typically present with vaginal bleeding.
If your cancer recurs, there are several options for treatment. These include repeat surgery, re-treatment with the same chemotherapy given initially, treatment with a different type of agent (chemotherapy, hormonal, or targeted therapy) and sometimes radiation therapy. As each recurrence will be different, it is important to discuss your individual situation with your team. It is also important to investigate whether there is a clinical trial that is appropriate for you. Don’t be afraid to seek a second opinion.
Isolated vaginal recurrences can often be cured so early detection and recognition of abnormal symptoms is critical. Notify your physician if you develop abnormal bleeding or other unusual pelvic symptoms following treatment for endometrial cancer.