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Offering cell-free DNA screening followed by invasive testing in the case of positive results does not result in a significant reduction in miscarriage among women with pregnancies at high risk of trisomy 21

cfDNA Screening First for Trisomy 21 Doesn’t Cut Miscarriage Rate

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Invasive testing if positive for trisomy 21 on cfDNA screen compared with immediate invasive testing
An ancient gene that protects elephants against cancer has been pinpointed and could lead to new ways to treat cancer in people

Ancient Gene Protects Elephants From Cancer

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The LIF6 gene destroys cells with damaged DNA
The C-509T allele in the promoter region of transforming growth factor β is associated with radiation-induced breast fibrosis risk among patients with early-stage breast cancer

TGFB1 Mutation Ups Radiation-Induced Breast Fibrosis Risk

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C-509T allele and postoperative cosmetic surgery significantly linked to breast fibrosis risk
Introduction of genomic screening into routine health care is dependent on demonstration of clinical utility

Demonstrating Clinical Use Will Speed Genomic Screening

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Field could advance more quickly if data from research participants, consumers got to clinic
Ultrarare

Molecular Autopsy May Shed Light on Sudden Death in Young

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Ultrarare, nonsynonymous variants seen in 64% of victims of sudden unexplained death in young
The incidence of treatment-emergent small-cell neuroendocrine prostate cancer (t-SCNC) is 17 percent among patients with metastatic castration-resistant prostate cancer

Advanced Prostate Cancer Variant More Common Than Thought

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Incidence of tx-emergent small-cell neuroendocrine prostate cancer 17 percent among those with mCRPC
The attending surgeon is associated with variation in the receipt of genetic testing after breast cancer diagnosis

Attending Surgeon Influences Genetic Testing in Breast Cancer

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About one-third of surgeon variation explained by patient volume, surgeon attitudes to genetic testing
There is moderately high interest in genetic testing for melanoma risk among the general population

Patient Interest Fairly High for Melanoma Genetic Risk Testing

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Reduced interest seen in minority and less educated populations
For postmenopausal African-American women

High-Risk APOL1 Not Tied to CVD, Stroke in Older Black Women

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High-risk APOL1 genotype is linked to HFpEF hospitalization in postmenopausal African-Americans
The combination of genetics and exposure to organic solvents in paints and varnishes increases the risk of multiple sclerosis

Organic Solvents + Genetics May Increase Risk of Multiple Sclerosis

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Finding of susceptibility seen regardless of smoking status