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• W2004170673 abstract "A test for multigene expression profi les can detect BRCA1 or BRCA2 muta tions in otherwise healthy women, according to results that could lead to a new way to detect women at high risk of breast cancer. Roughly 5% of breast cancers are due to an inherited mutation in BRCA1 or BRCA2. Women with such mutations have a sig nifi cantly increased risk of breast or ovarian cancer, often at an early age. Detection of the mutations can target women who would benefi t from prevention measures. “The current tool for mutation detection is gene sequencing, which is expensive and time consuming. In many cases when it identifi es a mutation we do not know if it is neutral or harmful”, said lead author Asher Salmon (Hadassah Hebrew University Medi cal Center, Jerusalem, Israel). Cells with mutations in BRCA1 or BRCA2 have a distinct gene expression profi le when exposed to causes of DNA damage. The group cultured white blood cells from nine healthy women with a mutated BRCA1 gene and eight with a mutated BRCA2 gene, then exposed the cells to radiation. RNA was extracted and compared with RNA from identically treated white cells from 10 non-carriers. 1500 genes were diff erentially expressed between carriers and noncarriers. They then did a validation study with 18 of the genes that diff ered most substantially between the two groups to predict the risk of carrying a mutation in 40 women with mutations in BRCA1, BRCA2, or both, and 17 non-carriers. The test had a sensitivity of 95% and specifi city of 88% and will be assessed in a larger validation study. “This test can serve as an aff ordable and quick prediction and screening tool for BRCA1 or BRCA2 mutation carriers using easily obtained lymphocytes”, concluded Salmon. Douglas Easton, professor of genetic epidemiology at the University of Cambridge, UK, said, “The paper extends work showing that breast cancers with BRCA1/2 mutations have distinct characteristics. This has been shown for BRCA1 carriers and this study fi nds a distinct expression profi le for BRCA2 carriers as well. Moreover, the diff erential expression after irradiation appears to be specifi cally linked to genes in DNA damage response pathways.” He was less convinced of the clini cal application of the new test, noting that: “BRCA1/2 testing is now a routine part of clinical genetics worldwide, costs have greatly decreased, it is extremely accurate, and detects most mutations.”" @default.
• W2004170673 created "2016-06-24" @default.
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• W2004170673 date "2013-03-01" @default.
• W2004170673 modified "2023-09-27" @default.
• W2004170673 title "New test predicts BRCA1 and BRCA2 mutations" @default.
• W2004170673 doi "https://doi.org/10.1016/s1470-2045(13)70004-4" @default.
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