Tag: Genetics
Breast Cancer Genetic Test Less Cost-Effective in Actual Practice
Oncotype DX less cost-effective in real-world practice than under ideal conditions
High Response of Desmoplastic Melanomas to PD-1 Blockade
Higher percentage of PD-L1-positive cells in the tumor parenchyma of desmoplastic melanomas
BRCA1 Promoter Methylation Tied to High-Grade Serous Ovarian CA
Elevated normal tissue BRCA1 promoter methylation associated with high-grade serous ovarian CA risk
Adherence to Healthy Diet May Cut Effects of Genetics on Obesity
Long-term, improved diet quality benefits weight control in those with high genetic risk of obesity
TP53 Variants Linked to Childhood ALL, Poor Outcomes
Carrying germline variants linked to decreased event-free, overall survival; higher risk of second cancers
KRAS Mutations Linked to Brain Arteriovenous Malformations
Most tissue samples of arteriovenous malformations of the brain had somatic activating KRAS mutations
ACOG Advocates Cascade Testing for Hereditary Gene Mutations
Ob-gyns should identify eligible patients, offer testing, and assist in decreasing barriers to testing
Neuroanatomic Abnormalities ID’d in Those at Risk for Autism
Seen in carriers of deletion or duplication at 16p11.2, a common cause of autism spectrum disorder
Gene Polymorphisms Linked to Risk of Chronic Post-Op Pain
Genetic variations, age, gender, history of chronic pain all associated with risk
Majority of Women Prefer Non-Invasive Testing for Trisomy 21
Yet, roughly one-third still want an invasive secondary test plus chromosomal microarray
