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Tag: Genetics

Genetic heart diseases cause fewer cases of sudden infant death syndrome than previously thought

Fewer SIDS Cases Result From Genetic Heart Disease Causes

Findings may help prevent unnecessary genetic testing of surviving family members
Many women with early-stage breast cancer with indications for formal genetic risk evaluation do not receive formal counseling

Too Few Early Breast CA Patients Given Formal Genetic Counseling

43.5% of women with early-stage breast cancer with indications for risk evaluation get counseling
Genetic variations associated with empathy play a role in psychiatric conditions and traits

Genetic Variations Impacting Empathy Tied to Psych Issues

Positive correlations of genetic variations with Empathy Quotient, risk for schizophrenia, anorexia
For young adults with autosomal dominant Alzheimer's disease

Molecular Markers May ID Alzheimer’s Before Clinical Onset

Amyloid-positive PSEN1 E280A mutation carriers have elevated levels of tau deposition before onset
Genetic stratification should play a role in the clinical care of patients with noncompaction cardiomyopathy

Genetics Should Inform Care in Noncompaction Cardiomyopathy

Genetic status linked to risk of major adverse cardiac events in NCCM patients
The therapeutic significance of losartan in Marfan syndrome may lie in its ability to activate protective endothelial function

Losartan May Improve Endothelial Function in Marfan Syndrome

Therapeutic importance may be increased in endothelial nitric oxide release, not ATR1 inhibition
A multidomain lifestyle intervention seems to be beneficial for cognition in older at-risk individuals

Multidomain Lifestyle Intervention May Aid Cognition in APOE ε4 Carriers

No significant difference seen in intervention effect between carriers and noncarriers of APOE ε4
A gene expression profile test to predict risk of breast cancer recurrence is less cost-effective in real-world practice as compared to ideal conditions

Breast Cancer Genetic Test Less Cost-Effective in Actual Practice

Oncotype DX less cost-effective in real-world practice than under ideal conditions
Patients with desmoplastic melanoma have a high level of objective tumor response to treatment with antibodies to block programmed cell death 1 (PD-1) or PD-1 ligand

High Response of Desmoplastic Melanomas to PD-1 Blockade

Higher percentage of PD-L1-positive cells in the tumor parenchyma of desmoplastic melanomas
Elevation in white blood cell BRCA1 promoter methylation is associated with high-grade serous ovarian cancer

BRCA1 Promoter Methylation Tied to High-Grade Serous Ovarian CA

Elevated normal tissue BRCA1 promoter methylation associated with high-grade serous ovarian CA risk