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An example of this could be a gene mutation associated with an increased risk of a serious health problem, such as cancer.
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There were rare families in which the disease seemed to be inherited, though, and perhaps there was a gene mutation that might provide a clue to what goes awry.
Only one interpretation of this report was allowed in the questionnaire and the response option most consistent with a VUS was "a gene mutation found but unknown if causing her breast cancer".
An Aurora A gene mutation is characterized by a centrosome separation defect [ 30].
The Nature study was carried out on mice, who were given a gene mutation called Braf, found in half of melanomas in humans.
Rett syndrome, which is a progressive, central nervous system disease that is caused by a gene mutation, is known to present with various symptoms.
After sequencing his DNA, his doctors discovered that his illness could be explained by a gene mutation that was causing a rare lymphoproliferative disorder.
One particularly aggressive form of epilepsy, which was once thought to be caused by vaccinations, was shown by Berkovic and Scheffer to be triggered by a gene mutation.
After hearing about gene studies going on at Johns Hopkins, he learned that some cancers can be traced to a gene mutation, and mapping the mutation could lead to a cure for other patients down the line.
Finally, there also is the element of chance — somebody has to be first — that is, a spontaneous gene mutation that ultimately is passed on, beginning the chain.
These characteristics then are linked to a gene mutation to figure out the gene's function.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com