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Tag: Genetics

SABCS: 22 Percent of Young BRCA Carriers Conceive After Breast Cancer

No significant difference seen in disease-free survival for those with, without pregnancy; overall survival up for those with pregnancy

Clot Risk High With Oral Contraceptives for Those at Genetic Risk

Risk highest in the first two years, regardless of genetic risk, and lower for continued use

Polygenic Predisposition to Short Sleep Linked to Depression

No association seen for polygenic score for depression with overall sleep duration, short sleep, or long sleep

Concurrent RNA and DNA Sequencing Improves Variant Detection

Overall, 17.1 percent of 545 pathogenic/likely pathogenic splicing variants were dependent on RNA evidence for classification

Genetic Predisposition to Insomnia Linked to Insomnia-Like Problems

Children with polygenic risk score for insomnia have more insomnia-related sleep problems between ages 1.5 and 15 years

Risk-Adapted Starting Age of CRC Screening Varies by Sex, Genetics

Risk-adapted starting age of screening varies by 24 years for men in highest polygenic risk score decile versus women in lowest

ACG: Digital Risk Assessment Tool Can ID Risk for Cancer Susceptibility Syndromes

15.6 percent of those who underwent genetic testing had pathogenic/likely pathogenic variants

Impact of Cancer Predisposing Variants on Mortality Examined in Survivors

Carrying cancer predisposing genes linked to increased risk for subsequent malignant-related mortality in childhood cancer survivors

Four SNPs Linked to Chronic Complex Regional Pain Syndrome Type 1

Four nonsynonymous single nucleotide polymorphisms increased in discovery cohort and confirmed in replication cohort

Four Genetic Variants ID’d for Risk for Progressive Multifocal Leukoencephalopathy

All four risk variants were predicted to be deleterious and were located in two immune pathways