Approximately 10% of all advanced ovarian cancer cases are genetically determined, and these cases could have been prevented if the genetic mutation had been detected early.
The most common genetic syndrome in gynecology is familial ovarian cancer – breast cancer syndrome – BRCA1 and BRCA2. The risk of ovarian cancer if the BRCA1 gene mutation is carried is 50-55%, and the risk of breast cancer is 85%. In cases of detection of this mutation, taking into account the exceptionally high risk of ovarian cancer and its diagnosis in the late stages in the vast majority of patients, preventive removal of the ovaries in women over 35 years of age or after the birth of a child is usually recommended.
Unfortunately, today there is no effective early diagnosis of ovarian cancer, therefore, even with regular follow-up by a gynecologist, ultrasound examination and testing using cancer markers, the disease in women is detected at stages III-IV.
Who is recommended to be tested for BRCA1 and BRCA2 gene mutations?
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For women with previously diagnosed breast cancer under the age of 30;
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for women with previously diagnosed breast cancer under the age of 50, if there is at least one relative with a similar disease diagnosed before menopause;
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for women of any age with two relatives with breast cancer under the age of 50 (one of them is of the first degree of kinship);
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daughter or sister of the media
mutations;
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ovarian cancer in two or more female relatives;
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ovarian cancer in one of the relatives and breast cancer in the other;
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belonging to the ethnic group of Ashkenazi Jews in the presence of one relative with breast cancer under the age of 50;
Another common genetic syndrome with an increased risk of developing uterine cancer (risk – 40-60%) and ovarian cancer (risk - 10-15%) is Lynch syndrome. It also includes colon cancer (55% risk).
Women who have relatives with these diseases are recommended to undergo genetic testing, and if one of the mutations (MSH2, MLH1, MSH10, etc.) is present, intensive screening is performed to detect diseases within this syndrome at an early stage.
Screening consists of:
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annual colonoscopy and gastroscopy starting at the age of 25,
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annual pelvic ultrasound from the age of 30,
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biopsies of the uterine mucosa (endometrium) once a year, starting at the age of 40.
Preventive removal of the uterus, often with appendages, is recommended for women who have realized childbearing function.
After assessing the risks, taking into account the diseases of relatives, age and many other factors, our patients are often referred for genetic testing and, if a positive result of the mutation is detected, repeated consultations are conducted with patients to discuss risk-reducing surgical and non-surgical approaches and strategies for early diagnosis (screening).
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