‘Everybody’ with breast cancer should undergo genomic testing for BRCA mutations
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All women with breast cancer should undergo genetic testing for BRCA1 and BRCA2 mutations, according to study findings presented at San Antonio Breast Cancer Symposium.
BRCA testing guidelines rely on age and the types, aggressiveness and quantity of cancers in a family, but results from the City of Hope’s Implementing Next-generation Sequencing for Precision Intervention and Risk Evaluation (INSPIRE) study showed strictly relying on those guidelines would preclude many women from getting treatment that need it, Joanne Mortimer, MD, FACP, FASCO, professor and vice chair of the department of medical oncology and therapeutics at City of Hope, told Healio.
Hispanic women — historically underrepresented in testing populations — had higher BRCA1 rates than white women, and 13.7% of women tested above the age of 60 years old had a positive BRCA1 or BRCA2 mutation despite usually not being tested for them.
“Everybody needs to be tested. Simple as that,” Mortimer said.
“It’s crazy to try and guess because the guess based on your family history and your age of diagnosis, all these sorts of things really aren’t helpful in predicting the probability of having a mutation. They’re pretty flawed,” she added. “We don’t routinely test women over the age of 60, and yet 14% of those women had a mutation. Years ago, the cost of doing this testing was in the thousands of dollars, now it’s like $200, so there’s really nothing holding us back and it’s important to know this information.”
Mortimer mentioned other reasons women didn’t test in the past, including the stigma of testing and concerns about insurers using that information negatively.
Germline testing is more acceptable today though thanks to products like 23andMe.
“The average consumer is so smart these days,” Mortimer said. “People understand knowing your genetic makeup has implications that have potential to help them long term.”
The INSPIRE study sought to determine the pervasiveness of BRCA1 and BRCA2 in undertested populations, such as Hispanics and Black women.
City of Hope tested 2,401 women with breast cancer from July 2020 to April 2023 — all free of charge — no matter their race, ethnicity or age.
Of the study population, 4.8% had either a BRCA1 or BRCA2 mutation. Hispanic women had a higher rate of BRCA1 mutations than non-Hispanic women (3% vs. 1.6%; P = .046), whereas the groups had comparable BRCA2 mutation rates (2.2% vs. 3%).
Hispanic women had a significantly higher likelihood of having a BRCA1 mutation than BRCA2 mutation compared with non-Hispanic women (OR = 2.49; 95% CI, 1.16-5.88).
Black women also had higher BRCA mutation rates than white women (8.1% vs. 4.8%), but with only 136 Black women participating, the study population was too small to discern more information, Mortimer said.
The results reinforced her belief that genomic testing for all women with breast cancer is imperative.
“If you have one of these mutations, we may not be able to prevent your cancer, but let’s find it early,” Mortimer said.
“We do different screenings for people. It is important if you have breast cancer you get tested, and if your kids have [BRCA mutations], we follow them in a different way,” she added. “There are real implications to being positive.”
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Mortimer J, et al. Poster PO3-08-04. Presented at: San Antonio Breast Cancer Symposium; Dec. 5-9, 2023; San Antonio.
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