Gene Mutations and Cancer Risk

Image of woman holding her chest with pink banner next to her

Since Angelina Jolie opened up about her BRCA1 gene mutation, more awareness about this mutation is spreading. Due to her announcement, public awareness skyrocketed and more women were getting tested. So much so that it became a phenomenon known as the Angla Joli Effect.

What Are the Chances of Getting Breast Cancer if You Have the BRCA1 Gene?

Those who test positive for an abnormal BRCA1, BRCA2, or PALB2 gene are learning their chance for breast cancer is higher than that of the average woman. An average woman without the mutation only has a 12% chance of getting breast cancer in her lifetime according to the  National Cancer Institute, whereas a woman with BRCA1 or BRCA2 has up to an 85% chance of getting breast cancer in her lifetime. The chance for ovarian cancer also increases with the gene mutations to about 16-44% chance compared to just under 2% for the average woman without the mutation. Women with BRCA1 are also more likely to develop estrogen-negative cancers, meaning that a cancer’s growth is not caused by the hormone estrogen. Anti-estrogen hormone therapy is not a viable treatment option and since these cancers tend to be more aggressive it’s important they are caught early. BRCA2 mutation-caused cancers however can benefit from hormonal therapy according to the American Cancer Society.

BRCA1, BRCA2 Prevention

This information is incredibly important because it gives women a chance to lower their risk through a variety of methods starting with an annual breast MRI at age 25. This is of great significance as BRCA1 and BRCA2 cancers tend to be aggressive and it is important to catch them early. Other risk-lowering methods include prophylactic surgery such as a double mastectomy and oophorectomy.

BRCA1 and BRCA2 not only affect women, but men are also at risk. Men with BRCA1 or BRCA2 mutation have an increased chance of developing prostate cancer and a higher lifetime risk of developing male breast cancer. Both women and men with the mutation are also at an elevated risk of developing pancreatic cancer. Those with a family history of breast or ovarian cancer should consider being tested for these mutations. Those with  Ashkenazi Jewish ancestry are also more likely to have the BRCA1 or BRCA2 mutation.  

The PALB2 gene mutation increases the chance of breast cancer to about 58% percent. Research about this gene is ongoing to find out how it affects the likelihood of developing other cancers such as ovarian and pancreatic.  


Breast Cancer Awareness – How to Detect BRCA1 and BRCA2 Gene Mutations

Every October is Breast Cancer Awareness Month. One of the leading causes of breast cancer is a genetic mutation in the BRCA1 and BRCA2 human genes. These genes create tumor suppressor proteins that help fix damaged DNA. When either one of these genes is altered or mutated, damage in DNA cannot be properly fixed. This can lead cells to develop additional genetic problems that can lead to cancer.

Sailors aboard the amphibious assault ship USS Bonhomme Richard (LHD 6) form a pink ribbon logo on the flight deck to show support for Breast Cancer Awareness Month. (U.S. Navy photo by Mass Communication Specialist 2nd Class Adam M. Bennett/Released)

Inherited BRCA1 and BRCA2 ((BReast CAncer genes 1 and 2) mutations drastically increase the risk of female breast as well as ovarian cancer and possibly other cancers such as pancreatic cancer. Angelina Jolie, the famous actress, shed light on cancer and genetic mutation that affects millions of women. Jolie spoke out about her mother’s death from ovarian cancer and her own discovery of carrying the BRCA1 mutation. This led Jolie to the decision to have a preventative double mastectomy. This preventative treatment is the most important step in preventing breast cancer in women carrying the mutation.

Only about 12% of women in the general population will develop breast cancer. However, about 65% of women in the general population carrying the BRCA1 mutation will develop breast cancer as will 45% of women with the BRCA2 mutation in their lifetime.

But What are BRCA1 and BRCA2 gene mutations?

We all have genes in our bodies, that we inherit from our parents. If a gene changes abnormally, it becomes a mutation and these mutations can be detected by your medical professional. More specifically, the BRCA1 and BRCA2 are mutations that are the building blocks, if you will, for cancer. They are the most popular mutations that are linked to breast cancer risk.

It is important to know that a child has a 50% chance of getting the mutation from either parent as both men and women can carry the mutation. Men with the BRCA2 mutation have an increased risk of breast cancer as well as prostate cancer. Anyone with a history of breast, ovarian, or prostate cancer in their family is encouraged to consider genetic counseling at the age of 25. The Affordable Care Act in the US considers genetic counseling as well as BRCA1 and BRCA2 mutation testing in those at high risk to be a covered preventive service.

Most common cancers - female, by occurrence

Those with the mutation can easily manage their risk by yearly screening as well as prophylactic (risk-reducing) procedures and chemoprevention. Enhanced screening increases the chance of detecting breast cancer in its early stages.

Women with the mutation are also at high risk for ovarian cancer. Unfortunately, no effective ovarian cancer screening methods currently exist. Since there is no way to detect early-stage ovarian tumors, many doctors are urging women to undergo prophylactic surgery to remove the ovaries after a woman is finished having children. This reduces the chance of a woman dying from ovarian cancer by about 80%.

Hopefully, within the next few years, medical technology will find ways to better detect, treat, and prevent ovarian as well as breast cancer in those carrying the mutations, but it can’t be emphasized enough. Get tested as often as your doctor recommends and take all the necessary precautions to help you avoid this deliberating disease.