Genetic Alteration Is the Main Cause of Ovarian and Breast Cancer

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    One third of cancer cases can be prevented. However, there are risk factors that cannot be controlled, such as age and genetic predisposition, especially in women who have mutations in these genes. Shutterstock/The Republic

    A genetic alteration or mutation points to be the main cause of the development of ovarian and breast cancer in women, these are the BCRA1 and BCRA2 genes. “We all carry these genes and they began to be studied in 1994, when the discovery of their potential relationship with cancer was documented for the first time”, explained Stephanie Perichón, medical oncologist.

    What the BCRA1 and BCRA2 genes do is regulate that the DNA is not damaged and tumors are produced, however, in some people they present changes or mutations and that protection is lost. It is estimated that 55% to 72% of women who inherit a harmful genetic variant or mutation in the BCRA1 gene will develop breast cancer at some point in their lives, and 45% to 69% of those with the harmful variant BCRA2, will manifest it between 70 and 80 years old.

    A very similar behavior occurs in ovarian cancer, where 39% to 44% of patients who inherit the harmful variant in BCRA1 are diagnosed at some point in their life, while 11% to 17% with the harmful variant BCRA2 will present between the ages of 70 to 80, according to the National Cancer Institute.

    These genes are hereditary so there is a 50% risk of carrying the gene if the father or mother has it. The fact that a person has the gene does not mean that they will develop the disease, but it does mean that carrying it increases the chances of developing it in the future, Perichón stressed.

    Given this, to determine if the cause of cancer derives from a genetic alteration, doctors perform tests through blood or saliva samples that verify if the patient has any harmful variant in her body. “This test or test is not done on the general population, it is done on patients who have developed cancer and whose characteristics give signs that it has some different conditions for which it is necessary to look for it to be potentially a cancer that is develops by a mutation”, detailed Perichón.

    In this sense, women with a family history of cancer are studied, particularly those who have been diagnosed with a case of breast or ovarian cancer within their family circle. Also patients diagnosed at an early age, where it is not usual for these pathologies to develop. Once the person has developed cancer, her sample is analyzed and if it is known that she is a mutated patient, her entire first-degree family is studied.

    Based on this association between the development of cancer and the genetic alteration, family members can benefit since not only is it determined if they are carriers of the alteration, but also work is done to reduce the risk that they will develop the disease at some point. “Currently, there are high chances of a cure, as long as an early diagnosis is obtained, this through the different treatments and the comprehensive care that is provided”, said Esteban Coto, AstraZeneca’s Medical Director for Central America and the Caribbean.

    To help patients improve their survival, specific treatment may be offered. “A third of cancer cases can be prevented and this is where educational initiatives for early detection and personalized treatment, complemented with healthy lifestyles and good eating habits, are essential. However, there are risk factors that cannot be controlled, such as age, a weakened immune system and genetic predisposition, especially in women who have mutations in the BRCA1 and BRCA2 genes”, Coto emphasized.

    Resonance Costa Rica

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