Women's Health

BRCA Gene Risk Status Identified for Ovarian Cancer

BRCA Gene Risk Status Identified for Ovarian Cancer

It is well-known in the medical community that a specific genetic mutation can increase your risk of getting ovarian cancer and breast cancer. These genes are commonly known as BRCA1 and BRCA 2.

While it is more likely that you’ll get ovarian cancer if you happen to have this genetic abnormality, you won’t necessarily get any cancer at all. You can in fact get ovarian cancer and not have that specific mutation.

There are many genetic mutations known to be risk factors for this disease. Researchers tend to focus on these specific mutations, because they are known to be stronger links, and are connected with breast cancer as well.

Past discoveries

Studies have been focused on how risk for ovarian cancer is tied to family history. There are many potential variables in studies like those, so more precise findings were needed. It is clear to experts that family history increases risk.

Approximately 1 in 500 women carry the genetic mutation. About 15 percent of ovarian cancer diagnoses are linked to genetic mutations passed down through family genes.

Many factors influence whether a person will actually get the disease, from environment and lifestyle choices, to diet, and factors yet to be determined.

Genetic history

If a woman has 1 or more family members with ovarian or breast cancer, she becomes more likely to be a carrier of the mutated genes. Doctors can advise genetic counseling, which is the first step to determining whether genetic testing is advisable. Typically, medical records are required to show proof that relatives have indeed had one or both diseases. This is for insurance purposes as well as to determine the likelihood of being a carrier.

There are specific criteria that medical professionals and insurance companies follow to determine if a woman is eligible for genetic testing. They typically require medical records of family members who have suffered with 1 or both of these diseases. This is unfortunate if a person has been adopted and has no access to family medical records, as can be the case. One can pay for genetic testing if desired.

What is the risk of being a carrier?

Though the BRCA risk has been known, the specific risk status has recently been uncovered in 2017. The study was conducted with a large group of women, which increases its viability in the medical community.

The Center for Cancer Genetic Epidemiology at the University of Cambridge, England undertook a lengthy study from 1997 to 2011 with 6036 carriers of the BRCA1 gene and 3820 carriers of the gene BRCA2. These women were identified by genetic screening based on a family history of ovarian, breast cancer, or both.

Women from the United Kingdom, the Netherlands and France took part in the study, with an average follow up of 5 years.

Of these women, 5046 did not initially have cancer, while 4,810 had ovarian or ovarian and breast cancer. Out of 5066 who were at risk based on the screenings, 109 of them actually got ovarian cancer.

They determined that the total risk up to age 80 is 44% for those with BRCA1, and 17% for carriers of BRCA2.

These findings were aligned with previous family history studies, as far as estimating potential risk.

Why would I want to know my risk?

Determining the specific percentage of risk is very helpful for doctors as well as patients, in making informed decisions. Presently, in many cases, genetic screening occurs after an ovarian cancer diagnosis has been made. This is typically because there isn’t a viable screening method yet for this type of cancer.

Women want to know if they carry the mutated gene to see if they’re at risk for breast cancer, and to know if their family may be at risk for the diseases. It can also help doctors determine if someone qualifies for a particular clinical trial, according to the National Ovarian Cancer Coalition.

Patients who carry a BRCA mutation may have a better response to platinum-based chemotherapy. This treatment reduces the possibility for certain side-effects.

With genetic testing, determining treatment options becomes more of an informed process.

You may be eligible for a clinical trial with a positive test result. These trials offer treatments that are not necessarily available outside the context of the trial.

For some women, this testing may be too stressful immediately following a diagnosis of cancer. Some will wait for a later date.

There will be family members who absolutely want to know if it runs in the family, and some who just don’t want to know. Since it is not a foolproof predictor, it is understandable to not want the extra (possibly unnecessary) worry.

This is one reason why genetic testings are not handed out like candy. It can be helpful to know, but there is no need to create undesirable stress or panic.

There are really a huge range of reactions to testing outcomes. Some experience relief, feeling that knowledge is power. These people might feel preventative measures to prevent recurrence of cancer is worth it. It can promote lifesaving action.

Others say it is anxiety provoking, in a big way.

It is a very personal decision, although medical professionals may try to influence your decision. Knowing yourself and how it will affect you emotionally in the long-term is important.

Lack of sufficient health insurance coverage may prevent screenings in the first place.

When should I get tested?

The U.S. Preventative Services Task Force (USPSTF) recommends testing only when there is a specific family history of ovarian or breast cancer.

In the Journal of the American Medical Association, September 2015, geneticist Mary-Claire King makes a case for every woman over 30 being tested. While that course of action is not the general consensus, it is important to note that she is the geneticist who first identified the breast cancer genes. She has also had other ground-breaking discoveries in her career.

A negative test done more than 3 years ago should be redone. There have been advances in the testing procedures.

An estimated 15 percent of ovarian cancer diagnoses are linked to genetic predisposition, or hereditary factors passed down through family genes.

Potential test results

At your doctor’s office, a blood or saliva sample is taken at your doctor’s office, and sent to a commercial lab.

A genetic test doesn’t just include positive and negative test results. Eric Fowler, a certified genetic counselor at CTCA in Zion, Illinois, explains that a genetic test can have 4 different results: positive, indeterminate, negative, or inconclusive.

Positive means a genetic mutation was found, indeterminate means no mutation has been found, negative means a mutation that another of your family members carries was not found, and inconclusive is where a genetic variation is discovered that could affect cancer risk, or not.

So, the results are perhaps not as cut and dried as one might hope.

The 2008 Genetic Information Nondiscrimination Act (GINA) protects against discrimination by health insurance plans because of an individual’s genetic information. The cost of genetic testing without insurance ranges between $300 and $5,000, depending on the size of the area being examined.

Life insurance, does, however, discriminate. Breastcancer.org suggests getting life insurance prior to being testing. It is possible to get tested under an anonymous code or an unassumed name.

Testing can uncover mutations that have unknown harmful effects. There is still a lot of mystery surrounding mutations and their potential significance.

What if I am positive for the mutation?

Since ovarian cancer can be deadly, if a woman has had breast cancer, and has the genetic mutation BRBC1 or BRBC2, regular screenings for ovarian cancer are in order. Even though the screenings are not yet 100% accurate, it would be wise to take precautionary measures.

Some women will elect to have surgery, even if they are only at risk. Removal of the ovaries can be an option.

Removal of the ovaries comes with symptoms. It brings the onset of menopause with those symptoms and because of reduced estrogen levels, can result in risk of heart disease and bone thinning.

If this surgery is not opted for, the National Ovarian Cancer Coalition recommends the following screenings:

  • Have a pelvic exam twice a year, after age 35. You are more at risk for ovarian cancer after age 40.
  • Testing for a CA-125 levels in the blood two times a year.
  • Transvaginal ultrasound, used to look at the uterus, fallopian tubes, and ovaries.

Since these tests are not entirely accurate, it is important to pay attention to potential symptoms for ovarian cancer.

Being observant of your body and aware of risks is key.

The newly discovered risk patterns based on genetic information will help patients educate themselves on what potential action to take with their health.

In light of these discoveries, new research studies are being conducted to improve treatment and prevention in people who carry the mutations. Genetic counseling can also become a more targeted science.