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Tag: Genetics

For patients with hypertrophic cardiomyopathy

Genotype Doesn’t Predict A-Fib in Hypertrophic Cardiomyopathy

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Genotype was not predictive of onset or severity of atrial fibrillation
A genetic test of homologous recombination genes might help predict outcomes for women diagnosed with ovarian cancer

Gene Panel Test May Help Predict Ovarian Cancer Prognosis

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Women with mutations in some 'DNA repair' genes may survive much longer, research shows
Methylenetetrahydrofolate reductase polymorphism and elevated homocysteine levels contribute to the risk of cortical cataract

MTHFR Polymorphism, Higher Homocysteine Up Cataract Risk

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Increased risk for methylenetetrahydrofolate reductase polymorphism, elevated homocysteine
Familial hypercholesterolemia affects about one in every 250 American men and women and significantly increases their risk for an early heart attack

Familial Hypercholesterolemia More Common Than Thought

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Researchers find roughly 834,500 Americans have inherited condition
The CYP3A7*1C allele appears to be associated with mortality and disease progression in specific cancers

CYP3A7*1C Allele Linked to Cancer Mortality, Progression

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Associated with adverse outcomes in breast cancer, lung cancer, chronic lymphocytic leukemia
The 21-gene recurrence score (Oncotype DX) seems to accurately identify women with early-stage breast cancer who don't need chemotherapy

Gene Test IDs Breast CA Patients Who May Not Need Chemo

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Analysis can help women who won't benefit from additional treatment to avoid side effects
In order to determine Mycobacterium tuberculosis drug resistance

Large Number of Mutations Needed to ID TB Drug Resistance

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Predicted resistance to rifampicin and isoniazid ID'd based on 238 mutations across 18 genetic loci
Recommendations on screening for genetic disorders and fetal aneuploidy have been updated

ACOG Issues Recommendations on Prenatal Screening

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Bulletins relate to prenatal diagnostic testing for genetic disorders, screening for fetal aneuploidy
Mutations in the angiopoietin-like 4 (ANGPTL4) gene are associated with coronary artery disease

Mutations in ANGPTL4 Linked to Coronary Artery Disease

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Two studies show variant carriers have better lipid levels, lower likelihood of coronary artery disease
Preferentially expressed antigen in melanoma (PRAME) mRNA expression predicts metastasis in Class 1 uveal melanoma

PRAME Predicts Metastasis in Class 1 Uveal Melanoma

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PRAME mRNA expression is independent prognostic biomarker in Class 1 uveal melanoma