BRCA gene, should you be worried?

by | August 22, 2018

Everyone has a BRCA gene, and for most people, they function just fine. Without reading this or other articles, you probably wouldn’t even be aware of them, or have any reason to be aware of them. These two BRCA genes do have a specific and important function though, since they produce a type of protein called Tumor Suppressor Protein. Sounds important right? Yes, we definitely want a lot of tumor-suppressing going on.

What is the BRCA Gene? 

BRCA1, a gene on our 17th chromosome and BRCA2, a gene on our 13th chromosome, are both tumor suppressor genes that produce a tumor suppressor protein called Breast Cancer Type 1 Susceptibility Protein and Breast Cancer Type 2 Susceptibility Protein, respectively. Mutations in these genes can be inherited from either parent with a 50/50 chance of inheritance. So what happens when there is a mutation in one of these genes and what do people need to do about it? Let’s understand the cell division process a little.

Human cells are always dividing through a process called mitosis. During the cell division process and the time before a cell dies, there are many different biochemical reactions taking place that direct the cell on DNA replication, performance, and even its death. The direction of these processes comes from the many of other proteins living inside the cell. One such protein, called a tumor suppressor protein, has a few goals, with the main purpose of controlling cell growth. They are able to do this by helping to repair damaged DNA.

When a cell divides, it replicates its own DNA. During replication, the double strand of DNA often breaks or has mistakes in the coding, leading to DNA mismatching. The role of the tumor suppressor is to repair these breaks and/or mismatches. If a mismatch or break is unable to be repaired, the tumor suppressor works with other cell proteins to induce programmed cell death, a process called apoptosis. This is a biochemical mechanism that occurs in our body on a regular basis. And generally speaking, it works very well…until our tumor suppressor proteins don’t work.

brca gene
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When a BRCA gene is mutated, the protein that is produced is non-functional. So not only is damaged DNA unable to be corrected, but also, the ability to induce apoptosis can also be inhibited, meaning that the cell can replicate with broken and mismatched DNA. As more of these damaged cells replicate, they will begin to form unhealthy tissue, leading to malignant tumors.

People with mutations still have one healthy functioning gene (because we are born with two of each gene) so there isn’t a 100% chance that malignancy will occur. However, studies show that people with specific BRCA1 and BRC2 mutations have a 69% and 72% chance of developing breast cancer by the age of 80, respectively, and the risk of developing ovarian cancer is 44% and 17%, respectively. Considering that the general population has a 12% chance of developing breast cancer and a 1.3% chance for ovarian cancer, those numbers are considerable. So what does one do?

Enhanced screening through various scans and exams can catch cancers in the very early stages however there are limitations, especially with ovarian cancer, which has no proven effective screening tool. Chemoprevention and oral contraceptives are also options to lower breast and ovarian cancer respectively. People are also advised to have prophylactic or risk-reducing surgery. This includes bilateral salpingooopherectomy, removal of both ovaries and fallopian tubes, and mastectomy, the removal of one or both breasts. However, the decision to have such invasive surgery is very personal and definitely not a choice all people are willing to make.

So what happens when you learn that you have a mutation in one of a BRCA gene? Learn everything you possibly can about your mutation and what your personal risks are. It is important to note that not all mutations are bad, so be sure to work closely with a medical care team who understands not only your mutation, but also your risk based on family history as well.

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