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
