Silent and diagnosed late, ovarian cancer has a high mortality rate, but it can be mapped by genetic factors.

According to the National Cancer Institute (INCA), it is estimated that in 2020 around 6,650 women discovered the disease, which can be fatal in more than half of cases.

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Ovarian cancer is the second most common gynecological neoplasm, after cervical cancer, and is the deadliest among gynecological cancers. The disease usually has no symptoms in its initial stage, but when it is advanced, symptoms such as abdominal swelling, weight loss, pelvic pain, and changes in bowel and urinary habits are more common.

A survey conducted by CNIB showed that the states with the highest incidences of the disease in 2020 were Rio de Janeiro, Mato Grosso do Sul, Tocantins, Piauí, Ceará, Rio Grande do Norte and the Federal District.

Geneticist and CEO of the Mendelics laboratory, David Schlesinger, warns of the importance of early diagnosis of the disease, which can be influenced by genetic risk factors, such as mutations in genes BRCA1 and BRCA2. “For women suspected of genetic risk, DNA testing can identify mutations associated with an increased risk of ovarian cancer and other cancers, such as breast cancer. This type of test is important because it helps the doctor to define the preventive screening measures and the best treatment if the disease develops”, explains David.

We invite the geneticist to clarify the main doubts on the subject, in the month that marks the world disease day. To verify:

Someone in my family has discovered ovarian cancer, what are my chances of developing the disease as well?

Cancer is a genetic disease influenced by age and different environmental factors such as smoking, excessive alcohol consumption and obesity. Ovarian cancer is a type of tumor that usually develops in women over the age of 40.

For women in the general population, the risk of ovarian cancer is 1.2% at age 80. However, for those who have a mutation in the genes BRCA1 and BRCA2, the risk increases to 44% and 17%, respectively. Mutations in these genes can be inherited and change not only the risk of developing ovarian cancer, but also breast cancer and other cancers.

Thus, the risk of developing ovarian cancer depends on whether the person in your family who discovered the disease has mutations that increase the risk and whether it is possible that this mutation has been passed on to you, for example from parents to children.

Does the risk of developing the disease vary depending on whether the family member is maternal or paternal?
All people, women or men, have the genes BRCA1 and BRCA2. Changes in these genes increase the risk of developing cancer of the prostate, breast, ovary, among others. Inherited mutations in genes BRCA1 and BRCA2 can be passed on to subsequent generations, with a 50% chance of passing the mutation on to a daughter or son, whether from father or mother, and if the mutation has been passed on, the risk of developing the disease is the same regardless of which family member passed it on.

Can all types of cancer be influenced by genetics?
Cancer is a disease caused by mutations in genes that affect cell growth and division. These changes prevent genes from performing their functions properly, causing cells to divide uncontrollably. Although most mutations are caused by environmental factors such as smoking and alcohol consumption, some are inherited and increase the risk of developing tumors. This is the case of mutations that confer hereditary cancer syndromes. To date, more than 50 hereditary cancer syndromes have been identified, including hereditary ovarian and breast cancer syndrome and Lynch syndrome, which increase the risk of developing various cancers such as ovarian cancers , breast, colorectal and stomach.

How is genetic testing done for hereditary ovarian cancer diagnoses?
Genetic testing for hereditary cancer analyzes a sample of the person to identify mutations present in the person and to assess whether there is a greater genetic predisposition to cancer. In hereditary cancer, the disease-causing mutation is present in every cell of the body. The detection tests for this type of cancer are therefore carried out with DNA samples from blood, oral mucosa, saliva or any other tissue.

Next-generation sequencing (NGS) and MLPA testing are the primary genetic tests for identifying hereditary cancer. They are used to confirm if the cause of the cancer is hereditary and to define preventive procedures and treatments, they also serve as an alert for the patient’s family who must follow preventive measures, such as genetic counseling and regular medical follow-up.

About ovarian cancer, what percentage of genetic cases?

Near 15 to 23% of cases of ovarian cancer are due to a mutation inherited from the parents, they are called hereditary tumors. Between 65 and 85% of inherited ovarian tumors are caused by an inherited gene mutation BRCA1 or BRCA2genes that help repair DNA defects.

Do symptoms change when ovarian cancer is hereditary?

Hereditary and sporadic ovarian cancer have similar symptoms, however, hereditary cancers usually appear in women under the age of 40 and can be associated with other tumors such as those of the breast and pancreas.

When to look for a medical specialist?
Women who have a first-degree relative diagnosed with ovarian cancer under age 40, or family members with breast, pancreatic, and prostate tumors diagnosed before age 50, should see a geneticist for a family history evaluation.

Women without these conditions should see the gynecologist frequently for routine exams and watch for signs such as abdominal swelling, unexplained weight loss or gain, loss of appetite, abnormal vaginal bleeding, pain during intercourse and changes in menstruation.

Is it possible to diagnose the tendency to develop the disease in childhood?
There is no indication for screening for hereditary ovarian cancer in children, as there are no guidelines that can modify the risk of the disease in this age group.

What can I do to reduce the risk of contracting the disease?
Certain precautions can be taken to reduce the risk of ovarian cancer, such as exercising, eating a balanced and healthy diet, eliminating cigarette smoking, and reducing alcohol consumption.

Medical monitoring is essential. For women with genetic mutations BRCA1 and BRCA2, between 30-35 years old and those who still want to have children, the doctor can prescribe periodic screening tests every 6 months. For women aged 40-45 with mutations in genes BRAC, in addition to screening tests, the doctor may recommend risk reduction surgery.

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