New federal guidelines for BRCA testing

Sept. 16, 2019

Eager to learn about her family tree, Dorothy Pomerantz sent a saliva sample to an online testing company last summer. To her "utter shock," the results revealed that she has a gene mutation called BRCA1, which greatly increases her risk for breast and ovarian cancer. Despite the challenges of dealing with the genetic information and its aftermath, she said she is grateful that she learned about the mutation before cancer struck.

More women than ever are being encouraged to undergo screening for BRCA gene mutations, based on newly announced U.S. Preventive Services Task Force recommendations. The task force's major recommendations are (a) All women of Ashkenazi Jewish descent should undergo testing to see if they have the genetic mutation and (b) Women who have been diagnosed with breast, ovarian or tubal cancer in the past and who have completed treatment also should be tested, even if their physicians say they are currently cancer free.

The previous task force recommendations, issued in 2013, called for screening only women who have a family history of breast, ovarian, tubal or peritoneal cancer.

But women who are of Ashkenazi Jewish heritage-meaning that their ancestors hailed from Poland, Russia, Hungary and other central or eastern European countries-are at significantly higher risk for breast and ovarian cancers than other women. About 1 in 40 Ashkenazi Jewish women inherits one of the BRCA mutations, which are responsible for about 5 percent to 10 percent of breast cancer cases and 15 percent of ovarian cancer cases. In the general population, BRCA1 and BRCA2 mutations occur in about 1 in 300 to 500 women, according to the task force.

Everyone is born with BRCA1 and BRCA2 genes, which typically help fight cancers. But some mutations in BRCA genes prevent them from working, according to the Centers for Disease Control and Prevention. Those who inherit either of the mutations are at higher risk not only for breast and ovarian cancers, but also prostate and pancreatic cancers. Not everyone who inherits a BRCA1 or BRCA2 mutation will get those cancers, though.

Critics of the new recommendations say they don't go far enough. They believe that all women should be tested for BRCA1 and BRCA2. Other health professionals take a more nuanced view.

"The U.S. healthcare system is not equipped to appropriately handle such a vast screening undertaking," said John E. Lee, MS, LCGC, program manager at the Genetic Counseling Clinic at Cedars-Sinai. "Still, I believe that everyone with newly diagnosed breast or ovarian cancer should get the screening to help guide their surgical and other treatment decisions."

He additionally recommends that every member of a family with a history of ovarian cancer, male breast cancer, rare cancers or cancer diagnoses at an early age should undergo genetic testing.

Several tests are available to detect harmful BRCA1 and BRCA2 gene mutations. Some look for a specific mutation that has already been identified in another family member. Others check for all of the known harmful mutations in both. Lee recommends that primary care doctors refer patients to a genetic counselor, who can help determine if family history and risk factors call for testing. Counselors can administer the test and properly interpret the results when they're in; they take about three weeks.

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