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Ovarian Cancer Genetic Risk

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Ovarian Cancer:  Do You Have A Genetic Risk?


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Actress Angelina Jolie made headlines this year with news that because she carried the BRCA1 mutation – a genetic trait that raised her risk for developing both ovarian and breast cancer – she decided to undergo a preventive double mastectomy. And news reports indicate she may be planning a future surgery to remove her ovaries.

Jolie’s decision sparked debate and surprised some who thought it radical.  Yet her courage in sharing this information publicly provides an opportunity to raise awareness about the role family history may play in breast and ovarian cancers.

Ovarian cancer is the second most common gynecological cancer in the U.S. and the primary cause of gynecological cancer death. The National Cancer Institute (NCI) estimates that 22,240 women will be diagnosed with ovarian cancer this year; 14,030 women will die from it.  

Ovarian cancer is difficult to recognize early as the symptoms – bloating, abdominal discomfort, back pain and a change in bowel and urinary habits – are common to so many conditions.  Unlike pap smears, which screen for cervical cancer, there isn’t a good screening test for ovarian cancer, says Jennifer Brzosowicz, a certified genetic counselor at Moffitt Cancer Center.

Family History As A Risk Factor
Reproductive, demographic, and lifestyle factors can affect which women develop ovarian cancer, but as the NCI points out, the single greatest risk factor is a family history of the disease.

Women with a first-degree relative, such as a mother, daughter, or sister who has been diagnosed with ovarian cancer, are at an increased risk for the cancer themselves. The risk jumps higher in women who have one first-degree relative and one second-degree relative, for example, a grandmother or aunt, with ovarian cancer.  It increases further for women who have two or more first-degree relatives with ovarian cancer.

At the same time, it’s important to understand that not all ovarian cancer is related to hereditary risk.  In fact, only five-to-ten percent of all cases are related to an inherited genetic trait, says the NCI.   

It’s also true that just having a family history or learning that you carry a BRCA mutation does not mean that you will develop cancer, says Brzosowicz.

The Role Of Genetic Testing
BRCA genes help repair DNA and prevent uncontrolled cell growth. But mutations interfere with normal function and can increase the risk of developing ovarian and breast cancers at a young age.  The lifetime risk for ovarian cancer among all women is 1.4 percent, but for women who have BRCA mutations, that risk jumps to 15-to-44 percent.

Both BRCA1 and BRCA2 mutations are associated with high risk for breast and ovarian cancers, and BRCA2 also is associated with an increased risk for certain other cancers.

Genetic testing can identify these mutations and help women evaluate their risk for these cancers, says Brzosowicz.  Who should be tested? That is a highly individual decision, she says, but based on National Comprehensive Cancer Network guidelines, prime candidates for genetic counseling are women with ovarian cancer, as well as those with a family history of the disease.

What To Expect From Genetic Testing
The first step is to meet with a genetic counselor to discuss personal and family history, the likelihood of an inherited mutation, the number of family members diagnosed with cancer, and whether testing is appropriate, says Brzosowicz.

If testing is the right decision, DNA from a blood sample will be examined for possible abnormalities to the BRCA1 and BRCA2 genes, as well as other genes that could be associated with hereditary ovarian cancer risk.

What if mutations are identified?  “Treatment decisions can be complex and must be made between the patient and physician,” says Brzosowicz.  “What is right for one person may not be right for another.”

A range of options are available, including surveillance or screening to find cancer early, preventive chemotherapy combined with regularly scheduled screenings, and elective surgery to remove both the fallopian tubes and ovaries.

For more information about BRCA mutations and genetic counseling for ovarian cancer, call 1-888-MOFFITT.


 
 
 
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