Ovarian cancer occurs when the cells in the ovaries grow abnormally into a malignant tumor. Approximately 24% of ovarian cancer cases are inherited while most are not. Hereditary ovarian cancer (HOC) occurs when a person has a genetic change (mutation) that causes their cells to be more likely to become cancerous. The mutation can be passed through generations in a family. Women with the mutation have a higher risk of developing ovarian cancer, and often other cancers, as well.

Breast cancer is the second most commonly diagnosed cancer in women. (Only skin cancer is more common.) About one in eight women in the United States will develop invasive breast cancer in her lifetime. Male breast cancer represents less than 1 percent of all breast cancer diagnoses. Particular gene mutations associated with breast cancer are more common among certain geographic or ethnic groups.

Our genes, or DNA, tell the cells in our body how to work correctly. Cancer-risk genes are genes that can impact whether a cell will begin to grow uncontrollably into cancer. We have two copies of every gene, one from our mother and the other from our father. Hereditary ovarian cancer is most commonly inherited in an autosomal dominant way. For dominant conditions, having only one copy of a gene mutation is enough to cause symptoms. In the case of HOC, having one mutation leads to an increased risk for cancer. If a person has a mutation in one gene for HOC, there is a 50% risk that each of their children will inherit this mutation. Siblings, parents, and potentially other relatives could also have the mutation. Importantly, not everyone who has a mutation in a cancer-risk gene will develop cancer, but their chances are higher. While rare, it is possible for a person to have a mutation for a dominant condition that is absent from both of their parents. In this situation, the mutation arose early before they were conceived or born. This is called de novo inheritance. Even after de novo inheritance, if a person has a mutation in one gene for hereditary ovarian cancer, each of their children will have a 50% risk to inherit the mutation. Less commonly, HOC can be inherited in an autosomal recessive way. For recessive conditions, both copies of a person’s gene must have a mutation before they will have an increased risk for cancer. Typically, an individual with a recessive condition will have inherited one mutation from their mom and one from their dad. Because the mom and dad have another copy of the gene without the mutation, they will usually not show symptoms. For these parents, there is a 25% risk with each pregnancy that the child will inherit both the mom’s and the dad’s mutations, and therefore, will have the recessive condition.

Two genes, named BRCA1 and BRCA2, are the most common causes of hereditary ovarian cancer, accounting for up to 75% of HOC cases. Mutations in these two genes are also associated with a significant risk for breast cancer, as well as prostate and pancreatic cancer

Hereditary ovarian cancer syndromes are conditions that impact other areas of an individual’s body in addition to increasing their risk for ovarian cancer. A syndrome can be inherited in a dominant, de novo, or recessive manner. Two examples of dominant hereditary ovarian cancer syndromes are listed below.

Lynch syndrome

 Lynch syndrome, also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), accounts for up to 15% of HOC cases. The condition is caused by a mutation in a gene whose job is to repair the DNA damage that normally occurs as cells grow and divide. People with Lynch syndrome are at an increased risk for different types of cancers, such as ovarian, gastric, prostate and brain. This is especially true for colon and endometrial cancer. Both men and women with this syndrome have up to an 80% risk to develop colon cancer by age 70 years. Women with Lynch syndrome have up to a 60% chance to develop endometrial cancer. Because of the high risk for cancer, people with Lynch syndrome require increased screening earlier than those without the condition.

Li-Fraumeni syndrome (LFS)

Li-Fraumeni syndrome is caused by a mutation in the TP53 gene. People with LFS have up to a 78% lifetime risk for cancer. Many different types of cancer can occur in LFS, and more than one kind can arise in a single person. It is important to diagnose LFS, because exposure to radiation therapy raises the cancer risk even further.

Yes. Targeted testing (Familial Mutation Test) is available through MMC. The cost is much lower than the cost of a genetic panel testing.

There are three possible results from genetic testing:

POSITIVE: +

A positive result means that a genetic mutation causing an increased risk for ovarian cancer was identified. Your risk for other cancers or health conditions may also be increased, depending on the gene involved. Your doctor can use this information to customize your care, which could include increased screening, preventative surgery, medication, and other steps. A positive result is also important for your family. Your parents, siblings, and children could have as high as a 50% chance to also have the mutation. As a result, sharing your genetic testing results with your relatives is important for their health.

NEGATIVE: –

A negative result indicates that a genetic mutation was not identified. A negative result may indicate that there is not a cancer-risk gene mutation in you or your family. However, it can also mean that the gene increasing risk in you or your family was not included on the ordered test. Your doctor can use a negative result to continue your treatment and screening based on your clinical and family history, or they may consider another type of genetic testing.

VARIANT OF UNCERTAIN CLINICAL SIGNIFICANCE (VUS): ?

 The third possible test result is called a Variant of Uncertain Clinical Significance. A gene variant is a genetic difference that could be disease-causing (mutation) or could be a normal finding (benign). More research is needed to determine whether the variant is important or not, and it should be treated as a negative result until more information is available.

It’s easy to overlook the early symptoms of ovarian cancer because they’re similar to other common illnesses or they tend to come and go. The early symptoms include:

• abdominal bloating, pressure, and pain
• abnormal fullness after eating
• difficulty eating
• an increase in urination
• an increased urge to urinate

Ovarian cancer can also cause other symptoms, such as:

• fatigue
• indigestion
• heartburn
• constipation
• back pain
• menstrual irregularities
• painful intercourse
• dermatomyositis (a rare inflammatory disease that can cause skin rash, muscle weakness, and inflamed muscles)

These symptoms may occur for any number of reasons. They aren’t necessarily due to ovarian cancer. Many women have some of these problems at one time or another. These types of symptoms are often temporary and respond to simple treatments in most cases.

Again, cancers are best treated when detected early. Please consult with your doctor if you experience new and unusual symptoms.

The symptoms will persist if they’re due to ovarian cancer. Symptoms usually become more severe as the tumor grows. By this time, the cancer has usually spread outside of the ovaries, making it much harder to treat effectively.

Contact your doctor if you have one or more of these symptoms for a significant period.