Women with a personal or family history of breast or ovarian cancer are increasingly seeking out genetic testing to determine their risk of future cancers. Many test for the most likely culprits –BRCA 1 or BRCA2 mutations. others look to whole genome sequencing for answers. But a study at Stanford has found that there may be a middle ground – multiple gene panel testing.
Gene panels allow researchers to learn the sequences of several genes simultaneously from a single blood sample. In the study conducted at Stanford, as many as 10 percent of women with a personal or family history of breast or ovarian cancer had at least one genetic mutation that, if known, would prompt their doctors to recommend changes in their care. the women in the study did not have mutations in BRCA1 or BRCA2, but they did have mutations in other cancer-associated genes.
"Although whole-genome sequencing can clearly be useful under the right conditions, it may be premature to consider doing on everyone," said James Ford, MD, who directs Stanford's Clinical Cancer Genetics Program. "Gene panels offer a middle ground between sequencing just a single gene like BRCA1 that we are certain is involved in disease risk, and sequencing every gene in the genome. It's a focused approach that should allow us to capture the most relevant information."
Screening for mutations in just a few select genes is quicker, easier and cheaper than whole-genome sequencing. In the study, Ford and co-author Allison Kurian, MD, assessed the sequences of 42 genes associated with the development of breast or other cancers, or involved in DNA repair pathways that nip potentially dangerous mutations in the bud. Of the 141 women tested, 14 had clinically actionable mutations in one of the 42 genes assessed by the panel.
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