A look at the BRCA genetic mutation and its link to breast cancer.
Some types of cancer are typically associated with a particular gender. For example, Breast Cancer is typically a disease that many people associate with women. What many people don't realize, however, is that with breast tissue present in men and women, men can also be diagnosed with Breast Cancer. Often cause by genetic pre-dispositions and mutations such as the BRCA genetic mutation, understanding male Breast Cancer, it's causes and how to live a healthy style for the management and prevention of this disease is essential for every person with a history of breast cancer in their family.
How does breast cancer occur?
Cancers occur when mutations happen in the genes that regulate cell growth. When a mutation occurs, cells can divide and multiply at an uncontrolled rate. If these cells continue multiplying and get progressively more abnormal, a tumor can form. These tumors form in different parts of the body depending on the specific gene mutation present in a person.
There are specific gene mutations that have been linked to particular cancers. The BRCA gene mutation, for example, has been linked to an increased risk of breast cancer. The BRCA1 and BRCA2 gene mutations are the most common BRCA mutations that impact the likelihood of being diagnosed breast cancer.
What is the BRCA gene mutation?
The BRCA gene mutation is the mutation of the BRCA1 or BRCA2 genes. These genes are tumor suppressor genes helping to repair damaged DNA. People with mutations in these genes have five times the normal risk of being diagnosed with breast cancer. When the BRCA1 or BRCA2 gene is mutated or altered, meaning that it doesn't function correctly, DNA damage can't be repaired properly. When DNA damage can't be repaired, cells can develop genetic alterations, and this is when genetic alterations that lead to cancer can occur. The BRCA1 and BRCA2 gene can be inherited from a person's mother or father. A child of a parent who carries the mutation has a 50% chance of inheriting the BRCA gene mutation.
How do you know if you have the BRCA1 and BRCA2 mutations?
There are several tests available to check for the presence of the BRCA1 or BRCA2 gene mutation. To be tested, a DNA sample (usually blood or saliva) is needed. This sample will be sent to a laboratory for analysis. The results usually take about a month.
According to the United States Preventative Services Task Force, women who have family members with breast, ovarian, fallopian tube, or peritoneal cancer should be evaluated to see if they have an increased risk of a harmful gene mutation. The same goes for men too. If a person has a family history that suggests the BRCA1 or BRCA2 mutation may be present, it's often best to start by testing a family member who has cancer if that person is willing to be tested. If this person has the BRCA1 or BRCA2 mutation, other family members could consider genetic counseling to discuss their potential cancer risk and if testing for the BRCA1 and BRCA2 genetic mutations is appropriate.
Why talk to a genetic counselor about the BRCA1 and BRCA2 mutations?
Before or after genetic testing for the BRCA1 and BRCA2 mutations, and any other gene mutations that increase the risk of cancer, it is recommended that people talk with a genetic counselor.
A genetic counselor can cover all aspects of the assessment process from a hereditary cancer risk assessment, to the explanation of specific test results and their accuracy. Other things people may discuss with a genetic counselor include:
if genetic testing is appropriate;
the implications of a positive or negative test result;
the potential that a test may not be conclusive;
the psychological risk and benefits of testing; and
the risk of passing a genetic mutation onto children.
What will the results of BRCA1 or BRCA2 testing mean for you?
When tested for the BRCA1 and BRCA2 gene mutation, you can receive a few possible results — a positive result, a negative result, or an inconclusive result.
A positive result means the person has inherited the harmful BRCA1 or BRCA2 genetic mutation and has an increased risk of developing breast cancer. It's important to note, however, that a positive result doesn't necessarily mean the person will develop cancer. In someone with a positive result, future generations may also be impacted. For example, men and women who inherit the BRCA1 or BRCA2 mutation may pass the mutation onto their children. A child has a 50% chance of inheriting a parent's mutation. If a person inherits the BRCA1 or BRCA2 mutation, it means that each of their siblings has a 50% chance of inheriting the mutation as well.
A negative result is often more difficult to understand than a positive result. This is because the meaning of the result will depend on the person's family history of cancer and if the BRCA1 or BRCA2 mutation is present in any blood relatives. If a first or second degree relative carries the BRCA1 or BRCA2 genetic mutation, and the person receives a negative result, it means the person does not have the mutation that is responsible for the cancer risk in their family and cannot pass it onto their children. This result is called a true negative.
If a person has a family history that suggests they could have the BRCA1 or BRCA2 mutation, but they receive a negative result, the result is less clear. This is because there is a small chance testing may miss the BRCA1 or BRCA2 genetic mutation. As scientists continue to discover further BRCA1 and BRCA2 mutations, it is possible a person may have a mutation that has not previously been identified.
An uncertain result can mean the genetic test finds a change in BRCA1 or BRCA2 that hasn't been associated with cancer before. In these cases, it isn't known if the genetic change is harmful or not.
Breast Cancer is one of the most common cancers amongst men and women. As scientists begin to understand more about the BRCA genetic mutation, how to test for this, and lifestyle changes that can be made to aid in the recovery from or prevention of male breast cancer, awareness of this disease will continue to grow. With this growing awareness and understanding of the disease, we're all reminded of the importance of taking preventative measures to lower the likelihood of cancer occurring.
Helpful resources:
HIS Breast Cancer Awareness, Education and Support for Male Breast Cancer and BRCA Genetic Mutations:
Know:BRCA, BRCA1 and BRCA2 Gene Mutations. 2018. URL: https://www.knowbrca.org/Learn/brca1-and-brca2-gene-mutations
National Cancer Institute, BRCA Mutations: Cancer Risk and Genetic Testing. 30 January 201. URL: https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet
U.S. Preventive Services Task Force. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Clinical Summary of USPSTF Recommendation. AHRQ Publication No. 12-05164-EF-3. December 2013. http://www.uspreventiveservicestaskforce.org/uspstf12/brcatest/brcatestsumm.htm
Bio; With a keen interest in holistic health and wellness, Nicola Smith works with clients in the health and wellness industry providing copy that engages audiences and helps businesses grow. Her goal is to help people have a holistic approach to their health, and inspire others to simplify their lives, pack a suitcase, and book a ticket to somewhere they've always wanted to visit or live. You can also follow her adventures on Instagram @luggagelifestyle