Genetic study of breast cancer

What is the genetic study of breast cancer?

Breast cancer genetic testing seeks to identify the presence of mutations of the BCRA1 and BCRA2 genes, genes that produce tumor suppressor proteins. These mutated genes can be transmitted from mothers to daughters and determine an elevated risk of breast cancer. In fact, between 5 and 10% of cases of breast cancer are hereditary. Likewise, women carrying these genetic alterations are also more likely to have ovarian cancer, fallopian tube cancer, endometrial cancer and other types of tumors.

Women who are candidates for this genetic study are those who suffer from breast cancer or ovarian cancer, whose family history leads one to believe that it may be a hereditary cancer.

What does it consist of?

The genetic test for breast cancer is performed from a blood sample, using molecular biology techniques to analyze the DNA.

Between 5 and 10% of breast cancer cases are hereditary.

Why is it performed?

The aim of this test is to identify whether there are BCRA1 and BCRA2 gene mutations in women with a family history of breast or ovarian cancer so that, if they are carriers of these mutations, they can be closely monitored clinically.

The ultimate goal of this study is to identify the onset of cancer in its earliest stages so that treatment can be initiated as early as possible.

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Preparation for the genetic study of breast cancer

No special preparation is necessary, but it will be the gynecology specialist who will explain to the patient what to do before the study. You may be instructed to fast for the blood sample collection.

What does it feel like to have blood drawn?

As a general rule, the patient will not feel anything during the test, as only a sample of blood will be drawn for the test to be performed.

Meaning of results

When the result of the genetic study is positive, it indicates that the person has inherited the known harmful mutation in the BRCA1 or BRCA2 gene and therefore has an increased risk of developing certain cancers. However, it cannot be known if or when the individual will actually get the cancer. Likewise, some women who inherit a harmful mutation in BRCA1 or BRCA2 will never get breast or ovarian cancer.

A positive test result can also have important implications for family members and even future generations.