Many factors can dictate or increase the risk of breast cancer. While some of these risks are environmental, they are often hereditary. Every day, researchers discover more ways genetics can play a pivotal role in the development of cancer in our bodies. And because of this, genetic testing has become one of the most popular methods of determining the likelihood of acquiring the disease in the future.
BRCA testing is one of the most common methods of breast cancer screening. The test screens both the BRCA1 and BRCA2 genes, which are responsible for DNA repair; particularly in the breasts.
“When these genes function correctly, the DNA naturally repairs itself from damage or complications,” shares Dr. Patrick Hsu. “At a very basic level, it can keep diseases from forming. However, any mutation in the BRCA genes can lead to complications such as cancer.”
The mutation of the BRCA genes is often linked to family history and inheritance of breast cancer, suggesting that women who test negative are safe from developing cancer in the future. Unfortunately, the truth is far more complicated.
Can Negative BRCA Genetic Test lead to a risk of getting Breast Cancer?
At this time, BRCA testing is quite limited. The test only screens common BRCA mutations in the gene sequence.
According to Dr. Kendall Roehl, “As far as we know, only 8% of breast cancer patients have BRCA1 mutations. Depending on the study you check, as little as 20% and as many as 66% of breast cancer patients have BRCA2 mutations. Due to the size of BRCA1 and BRCA2 genes, any mutations along the entire genome may lead to breast cancer, including mutations we aren’t even aware of yet.”
This means that women who screen negative for BRCA mutations may be more vulnerable to breast cancer due to mutations that have yet to be discovered by scientists. The implications can even lead some women to naturally distrust the screening process for BRCA mutations.
“Mutations can be spontaneous and unique to an individual,” adds Dr. Hsu. “It’s actually these cases that are the most dangerous. Women who develop BRCA mutations will often pass these down to their children, and if these mutations lead to breast cancer, then their children are also at further risk.”
For doctors and researchers alike, this is why collecting various samples of a mutated BRCA gene is an underappreciated effort in research and prevention.
Looking at Other Genetic Markers through Testing
It should be noted that most modern genetic testing panels also observe other genetic sequences for mutations that may lead to breast cancer. The four other genes which have been linked to increased risk are:
The PALB2 gene works with the BRCA2 gene to repair DNA and fight tumor growth. Women with a PALB2 mutation are 5.5 times more likely to develop breast cancer.
The ATM gene is an independent DNA repair gene where mutations result in 3 times higher than average risk of breast cancer.
Breast cancer risk is twice as high in women with a CHEK2 mutation. This gene typically produces proteins that halt tumor growth.
The MSH6 gene is linked to another set of proteins that aid in DNA repair. Any mutations here increase breast cancer risk by 2.59 times higher than average.
BRCA Testing is Still Important
Despite all the uncertainty women face, BRCA testing is an incredibly important part of the efforts to prevent breast cancer. Regular screenings, combined with widespread awareness, can allow researchers to assemble a larger database of BRCA mutations.
“The more mutations researchers uncover will ultimately lead to a system that provides women with better and accurate results from BRCA screenings,” says Dr. Roehl.
The threat of breast cancer is a problem that women, unfortunately, have to live with. But that does not mean that women are powerless.
“Through the combined efforts of surgeons, researchers, and survivors alike, women today have access to a host of resources that can empower them to prevent the growth and occurrence of breast cancer,” concludes Dr. Hsu.
And this begins by undergoing regular screenings, maintaining a healthy and active lifestyle, and by consulting a team of doctors and board-certified plastic surgeons who specialize in breast cancer treatment, along with the reconstruction of the breasts. Their training, combined with years of applied skill, will allow you to come up with an informed decision that will lead to a happy, healthy, and ultimately cancer-free life.