Oct 28, 2022 - Health + Traits

Discovering a BRCA Gene in the Family

When Jane Beery learned that she carried a BRCA1 mutation, she was shocked but not surprised.

Jane, who is now 66, had been going in for mammograms and screenings since her early 30s. Her mother died from breast cancer and she has Ashkenazi Jewish heritage.

“I’ve lived with this whole breast cancer cloud hanging over me for my whole life,” she explained.

Jane Beery

So in 2018, when the 23andMe BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report* became available, she opted to receive the information.

“I remember hesitating before opening the report,” she said. “I thought about it for a while, and I thought about my life, and I went ahead.”

The report indicated that she had the BRCA1 variant – one of the three variants for which 23andMe tests.

After digesting her report, she told her nurse practitioner – who advised her to make an appointment for confirmatory testing with a genetic counselor – and her two daughters. “They were young adults, and I decided they needed the information.”

Meet the BRCA Genes

BRCA genes themselves do not cause cancer. Instead, they normally act as tumor suppressors – helping to prevent cancer by repairing and protecting DNA. But BRCA variants cripple this DNA repair process, which can spur tumor growth and increase the risk of developing certain cancers, including breast, ovarian, and prostate cancer.

Sticking your head in the sand isn’t a good strategy, especially when there is so much that can be done

People with Ashkenazi Jewish heritage are particularly likely to carry these variants. Whereas one in 400 people in the general population carries a BRCA variant, about one in 40 people of Ashkenazi descent has one of the three variants included in 23andMe’s report.

23andMe Customers

More than 6,000 23andMe customers with a variant – including Jane –  have viewed their  BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report. 

But recent research estimates that less than 20 percent of people with a BRCA variant know they have one.

Taking Action

For Jane, knowing her BRCA status has allowed her to take proactive steps to protect her and her daughter’s health. Since the discovery, she elected to have preventative surgery to remove her ovaries as well as a double mastectomy – significantly reducing her chance of developing breast cancer and nearly eliminating her risk for ovarian cancer. 

And this knowledge became even more critical when one of her daughters found a lump in her breast at the age of 32 and was eventually diagnosed with breast cancer.

“[The hospital] had me scan and email my 23andMe reports to the geneticists while they waited for my daughter’s genetic test results to come back,” Jane recalled. “It was helpful in the time before they got her testing back, and they were able to confirm [her BRCA status].

Today, Jane is dedicated to sharing her BRCA story in the hopes that it can help others.

 “Power comes from knowledge,” she reflected. “Sticking your head in the sand isn’t a good strategy, especially when there is so much that can be done.”

*23andMe health predisposition reports include both reports that meet FDA requirements for genetic health risks and reports which are based on 23andMe research and have not been reviewed by the FDA. The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk. Warnings & Limitations: The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action. For important information and limitations regarding each genetic health risk report, visit 23andme.com/test-info/.

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