Understanding Hereditary Ovarian Cancer Risk

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During the month of September, you may notice teal ribbons and buttons being worn in support of Ovarian Cancer Awareness Month. We know that approximately 1 in 70 women will be diagnosed with ovarian cancer in their lifetime and that ovarian cancer is the deadliest of female reproductive organ cancers.

Given that currently available ovarian cancer screening tools aren’t as robust as screening methods for other cancers such as breast cancer, it can be beneficial for women to recognize the possible signs and symptoms of ovarian cancer to increase the chance of early detection. The symptoms of ovarian cancer are often subtle and can be explained by a number of underlying causes, but it can be important to take note and speak with your physician if you experience the symptoms for longer than 2-3 weeks.

SYMPTOMS OF OVARIAN CANCER

  • Bloating
  • Pelvic or abdominal pain
  • Difficulty eating or feeling full quickly
  • Urinary urgency or frequency
  • Nausea, indigestion, gas, constipation or diarrhea
  • Extreme fatigue
  • Shortness of breath
  • Backaches
  • Weight gain
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As genetic counselors, one of our goals is also to identify women that may face an increased risk to develop ovarian cancer based on previous personal or family histories of cancer. Women with family histories of ovarian cancer (through either their mother or father’s side of the family) should speak with their physician or a genetic counselor to determine whether genetic testing may be warranted.

Genetic mutations are associated with ~20% of ovarian cancer cases. While a number of different genes and hereditary cancer susceptibility syndromes may be seen in association, Hereditary Breast and Ovarian Cancer (HBOC) syndrome is the most common. It is believed that anywhere from ~65-85% of genetic mutations associated with ovarian cancer are found in the BRCA1/2 genes that cause HBOC syndrome. HBOC is characterized by increased risks primarily for female breast cancer and ovarian cancer, as well as increased risks for male breast cancer, prostate cancer, melanoma, stomach and pancreatic cancers. 

Another genetic syndrome that may increase risk for ovarian cancer is Lynch syndrome; approximately 10-15% of hereditary ovarian cancers are thought to be associated with this syndrome. Lynch syndrome is characterized by a significant increased risk for colon and endometrial cancer, as well as increased risks for ovarian cancer and other GI-related cancers (stomach, pancreatic, urinary tract and small intestine cancers). 

Individuals found to be carriers of mutations in the genes related to hereditary cancer syndromes such as HBOC or Lynch syndrome can begin increased surveillance at younger ages and possibly consider risk-reducing surgeries. For example, women with HBOC syndrome (which means they carry a BRCA1/2 mutation) would be encouraged to pursue increased annual breast screening that includes both mammograms and MRIs. The option for ovarian cancer screening and the consideration of surgical removal of the breasts and ovaries is available to these women as well. In the case of Lynch syndrome, screening recommendations would look different. Increased frequency of colonoscopy screening and possible removal of the uterus and ovaries for women would be considered.

This month, we recognize Ovarian Cancer Awareness and encourage you to speak with your physician or contact Insight Medical Genetics if you are interested in learning if you are at risk for HBOC, Lynch syndrome, or any other cancer susceptibility syndromes.