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Endometrial Cancer, Genetic Testing

Endometrial cancer is a type of cancer that originates in the lining of the uterus (endometrium). Symptoms may include abnormal vaginal bleeding. Treatment often involves surgery, such as a hysterectomy, along with radiation therapy, chemotherapy, or hormone therapy, depending on the stage and characteristics of the cancer. The assessment of the Polygenic Risk Score for endometrial cancer is based on the test of 15 gene polymorphisms.

Genetic testing for endometrial cancer is included along with 13 other diseases in the Genetic Screening for Endocrine and Genitourinary Diseases, Polygenic Risk Score, as well as in the Genetic Screening for Neoplasms and Precancerous Malformations, Polygenic Risk Score, along with 19 other diseases.

Causes and non-genetic risk factors

Endometrial cancer is the most common type of gynecological cancer in developed countries. It comes from the endometrium, the mucous layer that covers the inside of the uterus, where cells begin to grow uncontrolled. Its prevalence is low (8.4 cases/100.000 inhabitants) and generally has a good prognosis due to the early symptomatology that allows early diagnosis.

The exact cause of endometrial cancer is unknown. However, certain risk factors that increase the likelihood of its occurrence have been identified. Among them:

  • Hormonal imbalances. Abnormal fluctuations in estrogen and progesterone levels cause changes in the endometrium, especially if this involves an increase in estrogen levels and a decrease in progesterone. This can occur in polycystic ovary syndrome and obese women.
  • More years of menstruation. Women with early menarche and/or later menopause have a higher risk of developing this type of neoplasm.
  • Pregnancy: Women who have had at least one pregnancy have a lower risk of endometrial cancer.
  • Use of the contraceptive pill. Women who take contraceptive therapy for a long time have a lower risk of endometrial cancer.
  • Over 90% of endometrial cancer cases are diagnosed in women over 50 years of age.
  • Inherited cancer syndromes, such as Lynch syndrome or hereditary non-polyp colorectal cancer, increase the risk of endometrial cancer. Having mutations in BRCA1/2 genes also increases predisposition.

Endometrial cancer usually shows symptoms even in its early stages, facilitating early detection. Among the symptoms, the most common are:

  • Unusual vaginal bleeding, spotting, or other vaginal discharge: about 90% of patients diagnosed with endometrial cancer have abnormal vaginal bleeding, such as a change in menstruation or bleeding between periods or after menopause.
  • Pelvic pain and/or loss of mass and weight: A pain in the pelvis, a feeling of mass (tumor), and/or unexpected weight loss may also be symptoms of endometrial cancer. These symptoms are usually more common in the late stages of the disease.
  • Although any of these can be caused by conditions other than cancer, it's essential to consult your doctor about any of these symptoms.

Most cases of endometrial cancer cannot be prevented, but certain actions can reduce the risk of developing this disease. The best way to reduce your risk is to avoid or minimize risk factors. The general recommendations would be:

  • A healthy lifestyle, with a balanced diet, regular physical activity, and weight loss promotion in obsessive or overweight women.
  • Combination of estrogen with progesterone to treat menopausal symptoms. This combination can increase the risk of breast cancer, so it is recommended that you consult your doctor.
  • Taking birth control pills. The use of this type of drug reduces the risk of uterine neoplasia and may be helpful to in high-risk women.
  • In the case of hereditary predisposition syndromes such as those mentioned above (Lynch syndrome, etc.) in which patients have a very high risk of endometrial cancer, hysterectomy can be considered as a preventive measure.
Additional information
Results Time4 - 5 Weeks
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