Written by SMH Genetic Counselor Nicole Wood
As we go through life, and visit this doctor or that doctor, one message is constant: Stay up to date on your cancer screenings. Whether its mammograms or colonoscopies, you regularly hear how important these routine screenings are in detecting things at early stages. But when it comes to ovarian cancer, there’s no screening available, and that can be a scary realization for women, especially those who have a family history of the disease or a hereditary cancer syndrome like BRCA or Lynch Syndrome.
In the United States, ovarian cancer is the second-most common gynecological cancer —and the deadliest. It is the fifth-leading cause of cancer-related deaths in women. Why? Because it can’t be detected early with routine screenings and the symptoms are often vague. This means that by the time it’s diagnosed, the cancer is all too often in advanced stages, unfortunately.
Ovarian Cancer Symptoms
Ovarian cancer is sometimes called the “silent killer” or a “whisperer” because it rarely shows signs or symptoms at early stages — or the symptoms are often attributed to something else. These symptoms are easy to dismiss as normal parts of life: the heartburn you sometimes get from eating spicy foods, or feeling bloated as a result of your menstrual cycle. They can be especially easy to ignore if you are a young woman. Keep in mind, however, that more than 25 percent of ovarian cancer is genetic and occurs at much younger ages.
Some of the most common symptoms experienced in early-stage ovarian cancer include:
- Feeling full quickly after eating
- Abdominal/pelvic pain
- Frequent urination
- Upset stomach or vomiting
- Back pain
- Pain during intercourse
- Changes in your menstrual cycle
It is important to know know your body — to know your “normal” — and know when something is off. Because the symptoms of ovarian cancer are so vague, if have them and they persist, discuss your concern with your doctors and encourage them to investigate.
Testing for Ovarian Cancer
For many years, it was the standard of care for women concerned about their ovarian health to have a transvaginal ultrasound and a CA-125 blood test, which looks for ovarian cancer proteins in the blood. In 2015, the US Food and Drug Administration (FDA) and Centers for Disease Control and Prevention (CDC) analyzed the data for all the years these tests were performed and determined that doing these tests did not help physicians identify ovarian cancer at an earlier stage. They determined that physicians are not reliably able to catch ovarian cancer early enough to make it worth performing the tests routinely.
That being said, many physicians have seen these tests work well and continue to use them despite the FDA’s stance. If you are concerned about your ovaries, talk to your gynecologist.
If you are at high risk for ovarian cancer, based on a hereditary or family risk, your doctor might recommend removing your ovaries as a preventative measure after a certain age (usually after age 40). This procedure is called a bilateral salipingo-oophorectomy (bilateral = both sides; salipingo = fallopian tubes; oophor = ovaries; ectomy = removal; or BSO for short). Some women will go a step further and opt to have their uterus removed with a hysterectomy.
Ovarian Cancer Causes
While science has not yet been able to pinpoint exactly what causes an individual’s cancer, most cancers are caused by the same underlying factors: the natural aging process, environmental exposures, lifestyle habits and genetics. In most cancer types (such as breast or colon cancer), only 10 percent are caused by a gene mutation that you inherit from one of your parents. The other is due to a combination of aging, environment and lifestyle. However, ovarian cancer is different.
More than 25 percent of ovarian cancer is caused by gene mutations. Because of this, any woman with ovarian cancer — and any woman with a family history of ovarian cancer — should get genetic testing.
There are several hereditary cancer syndromes that can increase your risk for ovarian cancer. The best way to know whether one of these might apply to you and your family is to take a detailed family history. Important features of your family history to determine include: who in your family has had cancer; how old were they when they developed their cancer; how old are they now or were they when they passed away; and did they have any genetic testing done?
One of the most commonly recognized hereditary cancer syndromes in relation to ovarian cancer is HBOC: Hereditary Breast and Ovarian Cancer. This syndrome is caused by mutations in the BRCA1 or BRCA2 genes. Hollywood actress Angelina Jolie brought this to many people’s attention when she publicly discussed her BRCA1 mutation and her subsequent decision to have preventative surgeries to remove her breasts and ovaries to reduce her risk for cancers in those organs.
Each gene carries a different risk for both breast and ovarian cancer; however, both are much higher than the average woman’s risk. These genes are also associated with an increased risk for male breast cancer, pancreatic cancer and prostate cancer. Check out the table below to see how the risks compare.
Lynch Syndrome is a lesser-known hereditary cancer syndrome that can also increase risk for ovarian AND endometrial/uterine cancers. Lynch Syndrome (sometimes referred to as “hereditary non-polyposis colorectal cancer,” or HNPCC) is caused by mutations in genes that repair accidental errors in our genetic code. These genes act as a spell-check for the rest of our genes as they replicate. If they do not function properly because of a mutation, the risk of colorectal, endometrial, ovarian, stomach and other cancer is increased.
An estimated 1 million Americans live with Lynch Syndrome, and it is believed that there are 500,000 people who are undiagnosed. Both HBOC and Lynch Syndrome are genetic and inherited in an autosomal dominant pattern. That means that if a parent has the condition, each of his/her children has a 50 percent chance of having it as well. While HBOC and Lynch Syndrome are the most common hereditary cancer syndromes, they are not the only ones that can cause an increased risk for ovarian or endometrial cancer. There are over 12 genes that we know of that can cause an increased risk for ovarian cancer.
Genetic Testing: Know Your Risk
The best way to know whether you or your loved ones could be at risk for ovarian and other hereditary cancer is to seek genetic counseling. Specially trained in human genetics, genetic counselors will give you a comprehensive and personalized risk assessment based on your personal risk factors and family history. During the consult, they will evaluate your family history, discuss genetic testing options and offer some medical management guidelines — whether you test positive or negative for a gene mutation.
It is always a good idea to see a specialist when having specialized testing done. In addition to providing a personalized risk assessment and pre-test education during the consult, a trained genetic counselor can offer assurance that you are being tested thorough and reputable lab. Most insurances cover both the genetic consult and genetic testing.
Nicole Wood, MS, CGC, is the only licensed and board-certified genetic counselor serving Sarasota County and its surrounding communities. Specialty trained in oncology genetic counseling, Wood works closely with the multidisciplinary Genetic Counseling and Education team at Sarasota Memorial to provide expertise for patients’ clinical care.