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In conclusion, the extensive mutation frequency data summarized in this paper provides a useful context in which mutation prevalence data from population-based surveillance studies of transmitted resistance can be interpreted.
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So far, the management for BRCA1/2 mutation patients or carriers in Korea is recommending that application is individually based on the prevalence data of BRCA1/2 mutation of the KOHBRA study, as well as the worldwide guidelines such as the NCCN guideline or the International Consensus Conference guideline.
Although the output obtained from genotyping this cohort of subjects could not be used in genotype phenotype correlation studies or to estimate SOS1 mutation prevalence in the NS population, the mutation data were utilized to provide a more detailed picture about the molecular spectrum of disease-causing mutations affecting the SOS1 gene.
Therefore, large data collection of BRCA1/2 mutation prevalence and penetrance in individual ethnic groups is necessary for applying individualized guideline for genetic counseling and testing, and management in clinical practice.
However, the main concern here is whether a longer time to diagnosis led to overrepresentation of mutation-positive cases in the FOTS data set, thereby biasing our mutation prevalence estimate.
Therefore, it appears the longer time to diagnosis in the FOTS data set did not appear to substantially affect the mutation prevalence estimate.
Data from Myriad Genetics clinical testing service [ 57] show a BRCA1 or BRCA2 mutation prevalence of 12% in women of Ashkenazi Jewish ancestry with breast cancer who are aged less than 50 years and who have no relevant listed family history.
Dr. Smith suspects that the prevalence data were distorted by data on diabetes in women that may not be as reliable as those involving men.
In this study, the relationship between lesion growth and mutation prevalence within a lesion was investigated.
To evaluate the mutation prevalence and phenotype in genes involved in the ocular retinoid metabolism.
Additional prevalence data is also required amongst recreational athletes [15].
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