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However, the ethical aspects of such an accelerated procedure remain controversial: if patients with incurable disease, whose tumour have the addictive mutation, are informed of the efficacy of the experimental drug, they will want (and deserve) access to the new treatment and may not accept random assignment to a poorly effective and toxic conventional therapy.
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Those testing negative for the familial mutation were informed that they still may have up to a 1.7-fold residual risk due to other co-inherited familial risks such as melanoma-prone phenotype and UVR exposure.
The posterior probabilities are informed by mutation frequency relative to a background model that incorporates mutation type and the gene-specific features mentioned above as well as position specific functional impact scores.
For now, breeders are informed about the mutation status (carrier/non-carrier) of newly approved young stallions and can voluntarily test their own mares.
Mutation carriers were informed about the need of early colonoscopic surveillance (starting at age 20 25 years), possible benefits and limits of additional screening procedures (endometrial ultrasounds and aspiration biopsy; upper digestive tract endoscopy) and other options aimed at reducing cancer risk (prophylactic interventions, changes in diet and life-style).
Patients and families with mutations should be informed of the limitations of these approaches and then should be followed up and managed by a multidisciplinary team over an extended time period [ 94].
Identified mutation carriers could be informed of optimal, risk appropriate clinical screening, and treatment.
If mutant Atxn2 does not only lead to gain of a toxic polyQ function, but also or even exclusively to a gain of normal function, then, despite the caveats of mouse-man comparisons, the study of symptomatic and presymptomatic SCA2 mutation carriers may potentially be informed by our studies.
There has been considerable debate surrounding predictive genetic testing and whether the individual and their family should be informed of any mutations that may increase the risk of illness or late onset disorder [ 65, 66].
Parents were informed of the possibility of mutation remaining unidentified.
Should a woman be informed if her fetus has a novel mutation of unpredictable consequence?
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