Genetic testing for ovarian cancer risk

Ovarian cancer is a common disease in women, it is known for its poor prognosis. This is a severe disease that unfortunately is usually diagnosed in its later stages, which leaves smaller chances of recovery.

Research has recently discovered a strong genetic link between breast cancer and ovarian cancer. Today, it is possible to undergo genetic screening to test for mutations in genes that increase the risk of developing these two diseases.


Risk factors for hereditary ovarian cancer – who is at high risk?

Not every malignant disease is linked to a genetic mutation, many tumors appear spontaneously and with no hereditary basis. The risk for hereditary cancer increases in the following cases:

Personal history of ovarian cancer at an early age – a personal history of cancer diagnosis between the ages 30-50 is considered early and may increase the risk for hereditary cancer.

Family history of ovarian or breast cancer – in many cases, a family history of malignant diseases can indicate a genetic disorder that could be diagnosed.

Other types of cancer – being diagnosed with different types of cancer (colorectal, pancreatic, etc.) can raise a suspicion for a genetic disorder linked to the development of the disease.

Recurrent cancer – cases of recurrent cancer tumors that come back in different parts of the body after recovery) may indicate a genetic basis. 


How is the test performed?

Genetic testing for ovarian cancer id performed in cases of a risk for a hereditary disease. For instance, family history of cancer (especially breast, pancreas, and ovary) can indicate an increased risk for a genetic variation.

The test is performed like any routine blood draw. It tests for the relevant genetic mutations (variations), according to clinical manifestation and ethnic descent.

The main gene mutations tested are BRCA variations that appear in two possible forms – BRCA1 and BRCA2. These variations are linked to around 30% of cancer cases in people of Ashkenazi Jewish or Eastern European descent.

This gene mutation is passed down in families and is also linked to breast and pancreatic cancer. This makes detecting this mutation highly important.

Apart from BRCA, other mutations are known to increase the risk of ovarian cancer. During genetic counselling, specific tests are recommended according to ethnic descent, family history and personal medical history. Today, the relevant mutations for various population groups have been identified, these tests can help provide useful information for patients and their families.


Why is the test recommended?

There are two approaches to preforming genetic tests for ovarian and breast cancer. The first approach maintains that detecting genetic mutations can help an early treatment that may prevent the outbreak of cancer, such as ovary removal surgery or mastectomy.

The second approach maintains that these tests only put patients under unnecessary concerns and stress, since regular medical follow-up can be sufficient without the need for invasive procedures.

Many healthcare providers recommend genetic testing to patients in increased risk for hereditary cancer (especially in cases of ovarian cancer at an early age or a strong family history of this disease). These tests help plan follow-up and medical observation.

When test results are positive and a genetic mutation is detected, physicians recommend undergoing prophylactic mastectomy and ovary removal.

It should be noted that these procedures carry certain side-effects and complications, they require hormone-replacement therapy and reconstructive surgery. In addition, surgery does not guarantee a 100% of risk reduction for breast cancer, the disease may develop even after surgery in certain cases.


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