Dewey and colleagues found that depending on the sequencing platform used, there was incomplete coverage of inherited disease genes, low reproducibility of potentially clinically significant genetic variation, and uncertainty about clinically reportable findings.
This cohort study estimates age-specific risks of breast, ovarian, and contralateral breast cancer among carriers of BRCA1 and BRCA2 mutations and evaluates risk modification by family cancer history and location of the mutation within the BRCA gene.
This randomized clinical trial assesses whether topical therapy with either bevacizumab, estriol, or tranexamic acid that have differing mechanisms of action is effective in reducing hereditary hemorrhagic telangiectasia–related epistaxis in 121 adult patients treated at 6 US centers of excellence.
This genetic epidemiology study reports that risk of breast and ovarian cancer among women with BRCA1 and BRCA2 mutations varies by mutation type and location.
This study estimates familial risk and heritability of cancer types in a large twin cohort using data from population-based registers in Denmark, Finland, Norway, and Sweden.
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