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Genetic screening test for breast cancer: Starting this year more women can be tested

A new and important line following the expansion of the health services basket: starting in 2020, more women can be tested for a mutation in the BRCA gene.

Get to know the life-saving screening test and find out what the BRCA1 and BRCA2 genes are, why they should be tested and what the "Julie Julie effect" is.

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• breast cancer

Harela Halevi, in collaboration with Pfizer

Sunday, September 24, 2000, 1:20 p.m.

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In an article published in the New York Times in 2013, American actress Angelina Jolie revealed that she underwent a double preventive mastectomy.

She said she decided to have the surgery after a simple blood test revealed she was carrying a mutation in the BRCA1 gene, which significantly increases the risk of breast and ovarian cancer.

Julie came out calling for women to undergo a genetic test that detects common genetic mutations in breast cancer.

In the weeks that followed, many women rushed to get tested, but what many call the "Julie effect," which encouraged genetic screening, faded as time went on.

Breast cancer is the most common type of cancer among women in Israel.

The cancer develops due to DNA mutations that can cause normal breast cells to become cancerous. The most common genetic mutations that cause breast cancer develop in the BRCA1 and BRCA2 genes. Women (and also men) who carry a mutation in the BRCA gene are at increased risk for breast cancer and ovarian cancer In addition, people with mutations in these genes are more likely to develop cancer at an earlier age than people without these mutations.

What are BRCA1, BRCA2 and why test them?

BRCA-1 and BRCA-2 are human genes whose function is to repair defects and ensure the stability of the genetic material (DNA).

A mutation in one of these genes can cause gene dysfunction that can lead to the development of breast cancer and / or cancerous growths in other organs.

Mutations in the BRCA1 and BRCA2 genes can be inherited (passed from parents to their children).

If a man or woman carries the mutation, there is a 1 in 2 (50%) chance that their parents, children or siblings also have the same mutation.

However, not everyone who carries a mutation in the BRCA1 or BRCA2 genes will develop cancer.

A genetic screening test to detect a mutation in the BRCA gene is done using a blood test or a saliva sample.

Although the test may save lives, not every woman chooses to undergo a BRCA1 / 2 mutation screening test.

On the one hand, the test results are not unequivocal - even if a mutation has been found, it is not possible to know what its effect will be and whether cancer will actually develop.

A positive test result can cause constant anxiety, so some women prefer not to know in advance what their risk is.

On the other hand, there are women who know that having a mutation actually reduces the stress and anxiety that comes from not knowing, because if the test detects a mutation in the BRCA gene, it has many implications:

* Various steps can be taken to reduce the likelihood of developing cancer. Lina Julie did) or keep a close eye on it so you can detect the disease in its early stages.

* If you have breast cancer, a mutation test can help you decide on the type of treatment.

* If you have a first-degree relative who is ill and a carrier of the BRCA mutation (male or female), a positive answer has implications that also apply to family members, since as mentioned, it is a hereditary mutation that can occur in both women and men and can be inherited from either parent .

(Photo: depositphotos.com)

Until 2019, those who had breast cancer, and those with a family history of breast / ovarian cancer patients (first or second degree familial closeness) were eligible for a BRCA genetic screening test, after genetic counseling and on the recommendation of a geneticist or oncologist.

In 2020, the basket of health services in Israel was expanded and now any woman of Ashkenazi descent can perform a screening test to detect BRCA1 and BRCA2 mutations, whether she is healthy or has cancer, or whether she has relatives who have cancer or not.

Eligibility for the test does not require genetic counseling.

An open conversation with the doctor and an assessment of the risk versus benefit can help women decide whether to perform the now more accessible genetic screening test.

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