Genetic testing for cancer susceptibility is available.
Angelina Jolie, an American actress, made the BRCA1 gene famous. She brought awareness to this syndrome and the available genetic testing through her New York times opinion piece. Her mother passed away at a young age from breast cancer. Cancer, breast cancer included, is generally thought to occur mostly by environmental factors, but sometimes it can be due to a variation to a gene that causes the gene to no longer carry out the function it is supposed to. Usually, when there are multiple relatives with similar cancer diagnoses or are very young at the time they receive their cancer diagnosis, the chance the cancer is due to a single gene variation becomes more likely. For people who receive a cancer diagnosis in their 80s and have no other relatives with the disease, it is less likely their cancer was due to a single gene variation.
For Angelina’s family, the reason her mother developed breast cancer was because one of her BRCA1 gene copies had a pathogenic variant which caused it to not work in the way it was supposed to. The BRCA1 gene is a tumor suppressor gene. Its function is to prevent tumors from developing. There are two copies of every gene in our bodies, so there are two copies of the BRCA1 gene in every cell of our bodies. If one of the BRCA1 genes has a pathogenic variant in its sequence, then it cannot stop tumor cells from forming. If tumor cells form, then they can turn into tumors and result in cancer. If someone has a pathogenic variant in either their BRCA1 or BRCA2 gene copies, then they have the syndrome called Hereditary Breast and Ovarian Cancer Syndrome or HBOC. Both men and women can have this syndrome. The types of cancers associated with this syndrome are breast, ovarian, prostate, pancreatic, and melanoma.
Just because someone has HBOC it does not mean they will get cancer, but it increases their chances. Therefore, someone like Angelina Jolie can consider continual monitoring to assess if she has any of those cancers developing in her body. This can be done via mammograms, MRIs, blood tests, and other assessments.
Another option available is preventative surgery of the organ/tissues that the person has an increased chance to have cancer in, which is what Angelina Jolie decided to do. Preventative bilateral mastectomy is the option to remove the breast tissue and oophorectomy is the option to remove the ovaries. Once those tissues have been removed, the risk for cancer is reduced.
When someone finds out they have HBOC, it can be difficult to know how to move forward and whether to be monitored for the cancers or choose prophylactic surgery. With this diagnosis, there are guidelines put out by the National Comprehensive Cancer Network showing various paths people can take to manage this syndrome. Some people feel this knowledge is empowering since they know what to possibly expect and have options. Others may disagree and not want to know this information.
Nevertheless, it is something that can be tested for and has been the reason for earlier detection and prevention of cancer. Check out: https://www.nationalbreastcancer.org/what-is-brca for more information on this topic.
* This blog constitutes general information about genetic testing and medical screening. This blog does not offer or provide medical advice or diagnosis, and nothing in this blog should be construed as medical advice or diagnosis. Do not rely on the information in this blog/article to make medical management decisions. Please consult with a medical professional before making those decisions. Do not delay in seeking professional medical advice if you think you have a medical concern. Do not disregard professional medical advice based on any information received in this blog.
