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Many of us know a family member or friend who has been diagnosed with cancer. Even when we may know the disease, the announcement of the diagnosis to a friend or family member is shocking.
It is estimated that about one in eight women will develop cancer at some point in their life. Most cancers are caused by a combination of risk factors such as age, weight, exposure to hormonal treatments, reproductive aspects and lifestyles. Similarly, it is stated that a small percentage of all cancers grouped into a family is hereditary and is caused by dysfunctional genes that pass from parents to children.
Our genes contain instructions for building proteins, which control the structure and functions of our cells. We inherit two copies of each of our 21,000 genes. One of our mother and the other of our father. There are millions of variants in the genes, that's why there are not two identical people. While most of these variants are harmless, others generate errors that can hinder the normal functioning of a gene. These changes are called mutations.
Most cases of hereditary breast cancer are associated with mutations in two genes: BRCA1 and BRCA2. We all have BRCA1 and BRCA2 genes and their role in DNA repair is essential for normal cell growth. When a person inherits a defective BRCA1 or BRCA2 gene, be it from the father or the mother, the risk of breast cancer, ovarian or other cancer increases . Having a BRCA1 or BRCA2 mutation does not mean that you will have breast cancer, but your risk will be higher. For example, women with a mutation in the BRCA1 or BRCA2 genes may have up to 80% risk of being diagnosed with breast cancer during their lifetime.
There are currently more than 50 genes involved in cancer risk predisposition, each with a different risk. In many families, genetic changes associated with hereditary breast cancer are unknown. Current clinical studies focus on identifying additional factors that may increase the risk of breast cancer.
If you or your family want to know if they carry a hereditary cancer mutation, you must perform a genetic test involving the collection of a sample, blood or saliva. It is not necessary that all people be evaluated for the detection of hereditary cancer genes.
Several aspects can determine if you should have this test. Among these: if you or a family member has had breast or ovarian cancer, especially at a young age; if the cancer was in the breast, if your cancer was diagnosed as being triple negative, or if there is a history of cancers in your family other than breast cancer, such as, for example, cancer of the breast prostate, melanoma, pancreatic cancer, stomach cancer, uterine, thyroid, colon or sarcoma.
It is very likely that performing genetic tests to know your predisposition to cancer can be a stressful event. However, it may also allow you to take preventive measures, such as positive changes in your lifestyle, regular visits to your doctor and relevant tests for the early detection of any type of cancer. This process must involve the whole family. Before you undergo a genetic test, you must make sure you understand the risks, benefits and limitations in consultation with your doctor.
* The author is Associate Professor of Basic Sciences in the Division of Research in Cancer Biology of the University of Ponce Health Sciences and the Ponce Research Institute.
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