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Tag: Genetics

MEK Inhibition Beneficial for Children With Subset of Severe Hypertrophic Cardiomyopathy

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Decrease in mortality, morbidity seen with trametinib for children with RASopathy-associated hypertrophic cardiomyopathy

Candidate Genetic Variants Have Minimal Impact on Opioid Addiction Risk

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Fifteen candidate genes account for only 0.40 percent of variation in opioid use disorder risk

Genomics-Informed Model Beneficial for Neurodevelopmental Disorders

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Genetic diagnoses result in direct changes in management for patients with a pathogenic or likely pathogenic variant

Certain Risk Factors for MS Linked to Pediatric Brain Volume

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MS-polygenic risk score and household parental smoking negatively linked to total brain volume, thalamic volume

SABCS: Risk-Reducing Surgery Improves Outcomes in Young Breast Cancer Patients With BRCA Mutations

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Findings show survival benefits for both risk-reducing mastectomy and salpingo-oophorectomy

Early Bilateral Oophorectomy Increases Risk of Alzheimer Disease

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Risk even higher among women with bilateral oophorectomy carrying an APOE4 allele

Model Including Polygenic Risk, Polysocial Score Improves CHD Risk Prediction

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Polygenic risk score and polysocial score have independent and additive effects on coronary heart disease

Neoantigen DNA Vaccines Safe, Induce Response in Triple-Negative Breast Cancer

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Fourteen of 18 patients had neoantigen-specific T-cell responses; recurrence-free survival was 87.5 percent at 36 months

Potential Genetic Link ID’d Between Thyroid Disease, Alopecia Areata

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Significant genetic predictions of alopecia seen with hypothyroidism, Hashimoto thyroiditis, and subacute thyroiditis

Multigene Signature Can Help Tailor Chemo for Operable Triple-Negative Breast Cancer

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Improved three-year disease-free and recurrence-free survival seen with intensive chemotherapy regimen