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The breast cancer gene: What it is and how we can catch it

According to the American Cancer Society, approximately 232,340 cases of invasive breast cancer will be diagnosed in the United States and more than 39,000 women are predicted to die from the disease this year. Breast cancer is the second most common cancer in women. Nearly 12 percent of American women will get the disease and one in 36 will die from it.

And for a tiny percentage of women, the lifetime risk of getting breast cancer is five times higher.

These are the woman who already knew why Angelina Jolie removed her breasts; who cheered when the Supreme Court ruled genes can't be patented.

They are the carriers of the BRCA1 and BRCA2 mutations.

A genetic mutation

Though some may say, “I have the BRCA1” gene, the reality is that all people, men and women, carry the BRCA gene, or the breast cancer susceptibility gene 1 and 2. In normal cells, the BRCA genes help suppress uncontrolled cell growth (cancer). But in people with harmful mutations, the genes increase a person's chance of developing certain types of cancer, including breast and ovarian.

The mutations are relatively uncommon, with fewer than 1 percent of the population carrying the faulty gene. The mutation is, however, dominant, so just one parent needs to be a carrier for his or her offspring to also potentially be a carrier. Additionally, some populations have higher instances of the mutations, specifically Ashkenazi Jews (ethnic Jews with ancestry in central and eastern Europe). Because prevalence of the gene is so low, the mutations account for just 5 to 10 percent of all breast cancer cases in women. However, women who carry the gene have a 50 to 65 percent chance of getting breast cancer before age 70.

Jolie attracted waves of attention after announcing that she had a preventative double mastectomy and breast tissue replacement after testing positive for the BRCA1 mutation. Jolie isn't the only celebrity with the mutation; Christina Applegate, a breast cancer survivor, is a carrier and Sharon Osbourne also had a preventative mastectomy after testing positive.

But who should get tested? How does one get tested? And, a major concern for many women, how much does it cost?

Genetic testing

Up until this past week, only one company, Myriad Genetics, was able to screen for the trait because it held a patent on the BRCA1 and BRCA2 genes. But in a landmark ruling, the Supreme Court decided June 14 that naturally occurring genes were not eligible to be patented. Prices for testing have already begun to drop, which for some women was a $5,000 out of pocket cost.

Though not all women need or should be tested, the Supreme Court's ruling could help make the test even more available to those that are eligible, said Cassidi Dailey Kalejta, one of two genetic counselor with Inova Hospitals.

“Removing the patent allows for further research and opportunities as well as driving the cost down of genetic testing overall,” Kalejta explained.

Inova is one of two hospitals in the D.C. and Northern Virginia area that offers genetic testing, with Georgetown University Hospital being the other. Kalejta explained the testing process.

First, women receive an over-the-phone consultation, usually from a doctor referral. The genetic counselor investigates the family history and whether or not the patient is eligible for testing, using the eligibility standards established by the National Comprehensive Cancer Network.

If the patient is eligible, he or she meets in person with the genetic counselor to discuss medical history, previous screenings, familial history and draw a pedigree to shade the diagnoses of cancer within the family. The counselor also talks to the patient about what is being screened and what preventative measures exist. At Inova, the patient gives a saliva sample to be tested, though other places may take a blood sample.

If the screening comes up positive for a BRCA1 or BRCA2 mutation, the genetic counselor then discusses possible next steps, including aggressive screenings (to include yearly mammograms, breast MRIs and two clinical breast exams yearly) and prophylactic mastectomies, hysterectomies (removal of the uterus) or oophorectomies (removal of ovaries).

Patients must be 18 to undergo genetic testing and Kalejta recommends women get tested as soon as they are able, in order to begin possible preventative measures in between ages 20 and 25.

In May of this year, Kalejta and her colleague, genetic counselor Grace-Ann Fasaye, counseled 77 patients. Most genetic counseling centers see 258 for the entire year.

Kalejta attributes the high numbers to the limited locations to get tested, but she also says she has noticed an uptick in women getting screened with the headlines BRCA1 and BRCA2 have been making.

“Even since the Angelina story broke we have seen an uptick in genetic counseling calls,” Kalejta said.

Kelejta notes that other woman have recently been motivated to undergo the tests, despite having had a referral for testing for years.

“This has given them the push,” Kalejta said.


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