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Novel test predicted presence of BRCA mutations
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A novel multiple gene expression profile test predicted the presence of harmful BRCA1 and BRCA2 mutations in otherwise healthy women, according to study results.
Approximately 5% of all breast cancers are associated with an inherited mutation in either the BRCA1 or BRCA2 gene. Women with a mutation in their BRCA1 or BRCA2 gene are at significantly increased risk for developing breast or ovarian cancer. For many of those at risk, disease may develop at an early age, according to background information in the study.
Asher Y. Salmon, MD, a breast cancer specialist at Hadassah Hebrew University Medical Center in Jerusalem, and colleagues examined new ways to identify these mutations in their earliest stages so carriers can reduce their cancer risk.
“The current tool for mutation detection is gene sequencing, which is expensive, time-consuming and, in many cases, lacking clear and decisive clinical decision-making information,” Salmon said in a press release.
Salmon and colleagues collected white blood cells from nine healthy women with a mutated BRCA1 gene and eight healthy women with a BRCA2 gene. Researchers cultured the cells and exposed them to radiation.
Investigators then extracted RNA from the cells and compared it with total RNA from identically treated white blood cells from 10 healthy women who did not carry BRCA1 or BRCA2 mutations.
Salmon and colleagues identified 137 probe sets in BRCA1 carriers and 1,345 sets in BRCA2 carriers with differential gene expression.
Researchers conducted real-time polymerase chain reaction tests on the 36 genes considered the most significantly differentiated between the two groups.
Study results identified 21 genes as significantly differentiated in BRCA1 and/or BRCA2 mutation carriers compared with controls (P<.05).
In a validation study, researchers used blood samples from 40 healthy mutation carriers and 17 healthy noncarriers to construct a multiplex model that could predict a person’s risk of carrying a mutation.
The model indicated a sensitivity of 95% and a specificity of 88%, study results showed.
The test can quickly and affordably identify patients who carry the harmful gene mutation regardless of ethnicity or specific mutation, Salmon and colleagues wrote.
“In wealthy societies, it can become a screening tool for identifying individuals with a very high susceptibility for carrying a mutation, and full sequencing can be reserved only for them,” Salmon said. “In societies in which sequencing is not feasible, this test can substitute for it with a very high accuracy rate.”
Disclosure: The researchers report research support or honoraria from Johnson & Johnson, Micromedic, Novartis and Pfizer, as well as ownership interest in a patent owned by Hadassah Medical Organization.
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