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Science and Research

BRCA Mutations: A Link to Ovarian Cancer

How Genetics Play a Role

Ovarian cancer develops in the cells of the ovary, the female reproductive organ that produces eggs and the hormones estrogen and progesterone. Nearly 22,000 women in the U.S. are diagnosed with ovarian cancer each year, and while it is considered rare, it is the deadliest genitourinary cancer for women.

Genetic Mutations and Their Link to Ovarian Cancer

Genetic mutations can play a role in risk of ovarian cancer and treatment decisions.

Though there are several genetic mutations associated with cancer, BRCA1 and BRCA2 are the most commonly associated with hereditary cancer, including breast and ovarian cancer. BRCA1 and BRCA2 are genes that produce tumor-suppressor proteins. In a normal cell, your proteins will help repair the damage. However, if there are mutations in tumor supressor genes, you could accumulate other mutations, which increases the risk for cancer.

“When there is a mutation, the protein doesn’t function properly. One of the normal functions of these proteins is to repair the DNA, so during everyday exposure or proliferation of normal cells, the DNA breaks that occur naturally can be fixed,” explains Daniela Matei, MD, hematologist and medical oncologist at Northwestern Medicine and Robert H. Lurie Comprehensive Cancer Center of Northwestern University.

The lifetime ovarian cancer risk for women with a BRCA1 gene mutation is between 35% and 70%. Meanwhile, the risk for a woman with a BRCA2 mutation is estimated to be between 10% and 30%.

“All women should have gynecologic exams throughout their life to ensure their genital organs are normal, as much as can be detected by physical examination,” says Dr. Matei. “Individuals with an increased risk, such as those with a family history of breast or ovarian cancer, should be referred to a high risk clinic and undergo genetic counseling to assess their risk for developing or carrying the inheritable genetic mutation.”

About Ovarian Cancer

Knowing your risk of ovarian cancer is particularly important because the early symptoms are very subtle and tend to be associated with other issues, so it can be difficult to detect early.

“Ovaries are located deep in the pelvis, so symptoms are not readily apparent until tumors have grown significantly or have spread,” explains Dr. Matei.

Symptoms can include:

  • General discomfort in the lower abdomen
  • Diarrhea or constipation
  • Frequent urination
  • Feeling tired all the time
  • Bleeding from the vagina or menstrual irregularities
  • Painful intercourse
  • A build-up of fluid around the lungs, creating shortness of breath

Some factors that might increase your risk for ovarian cancer include the following:

  • Family history
  • A history of breast or colon cancer
  • Age (over 60)
  • No pregnancies or children
  • Being overweight or obese
  • Using long-term estrogen replacement therapy
  • Using fertility treatment
  • Endometriosis

Genetic Testing and Treatment for Ovarian Cancer

Not only do genetic mutations reflect an increased risk, they can also play a role in your treatment decisions if you do develop ovarian cancer. Research at Northwestern Medicine Feinberg School of Medicine has led to a major breakthrough with a new medication showing prolonged survival without progression of the tumor.

“The new standard of care for women with ovarian cancer includes referral to a genetic counselor to find out if a BRCA 1 or 2 mutation is present. If such a mutation is detected, there is a new class of drugs that has shown delay in cancer progression or growth of tumors and which can prolong the duration of remission after treatment,” says Dr. Matei.

Learn more about genetic testing and if it’s right for you.

Daniela Matei, MD
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