Lynch syndrome is a hereditary condition that significantly increases the risk of endometrial cancer in addition to other cancers. Women with Lynch syndrome face a substantially higher risk of developing endometrial cancer at a younger age compared to the general population. Early diagnosis through genetic testing, along with regular screening and preventive strategies, plays a crucial role in reducing the risk of cancer and improving outcomes.
Endometrial cancer risk
Endometrial cancer is a form of uterine cancer and is the fourth most common cancer among women in the United States. It is a malignancy originating in the lining of the uterus (the endometrium) and primarily affects postmenopausal women. However, it can also occur in women who are still menstruating, especially younger women who have certain risk factors. In addition to Lynch syndrome, other risk factors for endometrial cancer include obesity, irregular menstrual cycles, high estrogen levels (use of hormone replacement therapy without progesterone) and a family history of cancer. Women who have never been pregnant or those with a history of infertility are also at increased risk.
Risk associated with Lynch syndrome
Lynch syndrome is an inherited condition that increases the risk of several types of cancer, most notably colorectal and endometrial cancers. Approximately 2%-5% of endometrial cancer cases can be attributed to Lynch syndrome and the lifetime risk for endometrial cancer with Lynch syndrome is approximately 25%-55%. Lynch syndrome can cause up to 60% lifetime risk for colorectal cancer. In addition to an increased risk for endometrial and colorectal cancers, Lynch syndrome is associated with an increased risk of ovarian, stomach, small bowel, liver and urinary tract cancers, among others. While Lynch syndrome increases the risk for cancer, it is important to note that not all individuals with Lynch syndrome develop cancer.
Genetic testing for Lynch syndrome
Genetic testing is recommended for individuals with a personal or family history of Lynch syndrome-associated cancers, especially colon and endometrial cancer diagnosed at a young age. Lynch syndrome is caused by inherited mutations in the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2 and EPCAM) responsible for repairing DNA. The increased cancer risk is due to the limited ability of cells to repair DNA damage, which can lead to the accumulation of acquired mutations over time, increasing the likelihood of malignancy. When an individual is identified to have Lynch syndrome on genetic testing, they can then take preventive measures such as increased surveillance and prophylactic surgeries to help reduce their risks for cancer.
Signs and symptoms of endometrial cancer
The most common symptom of uterine cancer is abnormal vaginal bleeding, especially after menopause. Other symptoms may include pelvic pain or pressure and difficulty urinating. There is no routine screening for endometrial cancer in the general population. Still, women with abnormal bleeding or women at higher risk may undergo tests such as transvaginal ultrasound or endometrial biopsy for diagnosis.
Endometrial cancer screening and risk reduction for patients with Lynch syndrome
Women diagnosed with Lynch syndrome are encouraged to undergo regular screenings to monitor for early signs of endometrial cancer. These may include annual pelvic exams, ultrasound and endometrial biopsy to check for changes in the uterine lining. The goal of regular screenings is to catch any abnormalities at an early stage when they can be treated most effectively. For most women with Lynch syndrome, especially those who have completed their families, prophylactic hysterectomy (surgical removal of the uterus) is an option to reduce the risk of endometrial cancer because of a high risk of developing the disease. Additionally, certain types of birth control may be prescribed to reduce the risk of endometrial cancer. Use of hormonal contraceptives, such as birth control pills, has been shown to lower the risk in women with Lynch syndrome by suppressing ovulation and reducing the number of menstrual cycles a woman experiences. Additionally, maintaining a healthy weight and managing diabetes have been associated with a reduced risk of endometrial cancer. As understanding of the role of genetics and cancer evolves, individuals with Lynch syndrome can benefit from personalized approaches to surveillance, prevention and treatment, ultimately leading to better management of cancer risk.
Endometrial cancer diagnosis and treatment
Early detection through routine gynecological exams and attention to warning signs can lead to better outcomes as endometrial cancer is often treatable when caught early. Early stage endometrial cancer has a good prognosis with a 5-year survival rate of around 95%. If diagnosed at later stages, survival rates decrease. Treatment involves surgery, typically a hysterectomy (removal of the uterus), along with possible radiation, chemotherapy or hormone therapy depending on the stage and type of cancer.
Learn more about Northside’s Gynecologic Oncology Program.
Learn more about the Cancer Genetics Program.
