BRCA mutations and the choice of Angelina Jolie
The development of a tumor can depend on several factors, such as environmental, lifestyle, age and genetic predisposition. L ’ onset of some forms of breast cancer And the ovaries are associated with the mutations against the BRCA1 and BRCA2 genes. Several studies have shown that 5-10% of breast cancer cases and 15% of ovar cancer cases They are determined by mutations of the BRCA genes 1.2 .
BRCCA genes are also called “ Jolie genes ”
BRCCA genes are also called “ Jolie genes ”, because of the decision of the actress Angelina Jolie to undergo a double preventive mastectomy and ovariesctomy after discovering that she is the bearer of the mutation of the BRCA1 gene. Here is the story.
Angelina Jolie, with a letter on New York Times, In May 2013 she said that the mother was died at 56, after a battle against the ten -year breast cancer. This event led Angelina to contact her doctor to understand if she could happen to her too. In this way he discovered that he presented one Mutation of the BRCA1 gene, which very significantly increased its risk of developing breast cancer or ovarian cancer. To find out has carried out a specific genetic test To identify the presence of mutations borne by the BRCA1 and BRCA2 3 genes .
The doctors, after the test, revealed that his risk of developing breast cancer was of 87%, while that for the ovar cancer was 50%. Obviously these percentages change according to the woman and are not always the same. After learning this news, the actress decided to reduce this risk by carrying out a double preventive mastectomy 3 .
Following the intervention, his risk of getting sick for breast cancer dropped to 5%.
Angelina has chosen to make her history public to send a message to all women, especially those with familiarity for this disease, explaining them to them; the importance of carrying out a genetic test for identify the possible presence of mutations to the BRCA genes 3 .
Angelina Jolie’s choice had a strong impact, so much so that there was talk of “ Jolie effect ” referring to the sudden increase in online research on screening tests for BRCA mutations and the number of women who have decided to carry out the test. Even preventive mastectomies have increased, especially among women who already had a diagnosis of breast cancer 4 . This is a confirmation of the impact that the words of famous people can have on people, even regarding such important and delicate topics.
Women can choose to undergo specific genetic tests
Women can choose to undergo specific genetic tests to identify the presence of mutations borne by the BRCA genes, associated with the increase in the risk of developing cancer and ovar cancer development. The Genetic test BRCA Source, which consists in the withdrawal of a blood sample from which the DNA is analyzed to detect the presence of BRCA mutations, it is recommended to all women who are familiar with these diseases and those who want to obtain information on their genetic predisposition to these forms of cancer.
For more information on the BRCA Source Genetic Test: www.borcasorgent.IT
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