Sentences with phrase «unknown significance»
The phrase "unknown significance" means that something is not yet understood or its importance is not yet known. Full definition
The goal of our research is to provide doctors with key, additional information to choose best treatment strategies for breast cancers with novel mutations of unknown significance.
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One test has evaluated women with atypical - squamous cells of unknown significance in which there is no therapy or medical evidence available.
Former Meilerlab graduate student Gregory Sliwoski won best presentation price at the Department of Biomedical Informatics research forum «A clinic - driven pipeline for prioritizing variants of unknown significance with personalized structural biology».
A clinic - driven pipeline for prioritizing variants of unknown significance with personalized structural biology
To help clarify this gray area in clinical practice, Ding and her colleagues Jeffrey Parvin, MD, PhD, professor and director of the division of computational biology and bioinformatics at The Ohio State University, and Feng Chen, PhD, associate professor of medicine at Washington University, investigated 68 germline non-truncation mutations of unknown significance in the BRCA1 gene.
Ciccarella's results, however, were equivocal; Myriad told her it found a «variant of unknown significance» on BRCA1 and another on BRCA2.
«There were no variants of unknown significance detected in BRCA, but a variant of unknown significance was detected in CHEK2,» she tells me.
This is sort of a polymorphism (a variation of unknown significance), so we started to think about other ways to obtain experimental evidence to support that this mutation was causative for the disease by doing functional studies on the variant.»
Even for genes whose role in highly penetrant monogenic disorders has been well established, sequencing will reveal many variants of unknown significance.
Because of the growing spectrum of known alleles in disease - causing genes — many of them still of unknown significance — the clinical exam remains important for diagnosis.
How to classify variants of unknown significance?
Variants of Unknown Significance (VUS) on clinical reports are increasingly common, particularly as panels expand.
However, all too often tumors harbor novel mutations - so called «Variants of Unknown Significance» - for which the most effective strategy is unknown.
Genetic counseling sessions are therefore more likely to focus on probabilities than on absolute certainties, especially when «variants of unknown significance» or «incidental findings» emerge from tests.
«And yet even in that situation, a quarter of surgeons seeing a high volume of breast cancer patients were still saying they act on a variant of unknown significance the same as they do a mutation [known to raise breast cancer risk].
Other eye disorders seen in Picards but have an unknown significance to the breed are currently: