BR CA 1 and 2 What does it mean for Angelina-Jolie?

Breast cancer was in the spotlight again this week. With the announcement of Angelina Jolie’s decision to have a double mastectomy, many womens websites were buzzing about genetic testing and the benefits of determining genetic risk for breast cancer. Over 1600 comments were registered on the Jolie’s New York times article reflecting significant public interest and the potential effect on cancer clinics across the United States.

Many people are certain to be wondering about how to go about getting more information on genetic testing. It will primarily be the responsibility of family practitioner’s to guide women on the subject.

The average woman has a breast cancer risk of approximately 12%. Since Angelina Jolie is positive for BRCA1, her risk before surgery is approximately 7 times higher. According to Jolie her doctors estimated that she had an 87% risk of breast cancer and a 50% risk of ovarian cancer. This is due to a family history which includes a mother who was diagnosed with ovarian cancer at the age of 46 and died 10 years later.

According to Dr. Madlensky PhD CGC, a cancer geneticist and director of the Center’s for Family Cancer Genetics program, genetic testing should not be automatically ordered. Ideally patients should be screened by primary care physicians for evidence that would suggest a need for referral for genetic counseling even before the test is considered.

There is no standardized criteria for selecting candidates for further counseling. The National Cancer Institute, the National Comprehensive Cancer Network and the US Preventative Task Force provide some criteria. They usually include first and second degree relatives with breast and/or ovarian cancers.

• 2 first-degree relatives (mother, daughter, or sister) diagnosed with breast cancer, one of whom was younger than 50 year
• 3 or more first- or second-degree relatives (aunt or grandmother) diagnosed regardless of age
• combination of first- and second-degree relatives diagnosed with breast and ovarian cancer regardless of age
• first-degree relative with bilateral breast cancer
• breast cancer in a male relative
• combination of 2 or more first- or second-degree relatives with ovarian cancer
• For women of Ashkenazi Jewish descent: any first-degree or 2 second-degree relatives on same side of family diagnosed with breast or ovarian cancer.

Although Jolie has not publicly discussed the full extent of her family history other than her mother, it has been reported that other relatives have likely been either diagnosed with similar cancers or have tested positive for the BRCA mutation.

According to Dr. Madlensky, even if a person’s history includes only 1 first-degree relative, BRCA testing “could be” appropriate in some cases, especially if that relative could not be tested. BRCA testing should be considered a family undertaking, with the cancer patient central, she added.

We really ideally want the first test in the family to be on someone who’s had a cancer diagnosis. That way, we can figure out whether cancer was the result of a BRCA mutation or not. If that test is negative, then there’s no need to go and test any of the other family members,” she explained. “That’s something most people — including physicians — are not aware of,” she added.

“It is important for everyone to realize and to communicate when discussing with patients that a mutation in the BRCA gene only accounts for 5% to 10% of breast cancer, and so for the vast majority of women who get breast cancer, it is not due to a mutation in this gene,” she said.

“One of the biggest myths is that its hard to get access to a cancer genetic specialist,” she said, but that is not the case. The National Society of Genetic Counselors 2012 professional status survey found that wait times for the vast majority of its members were within a 2-week period, she noted.

For more information go to the; National Cancer Institute, the National Comprehensive Cancer Network, and the US Preventive Services Task Force websites.