Mayo Clinic Laboratory and pathology research roundup: December 28
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The research roundup provides an overview of the past week’s research from Mayo Clinic Laboratories consultants, including featured abstracts and a complete list of published studies and reviews.
Featured Abstract
Risk of late-onset breast cancer in genetically predisposed women.
The prevalence of germline pathogenic variants (PVs) in established breast cancer predisposition genes in women in the general population over age 65 years is not well-defined. However, testing guidelines suggest that women diagnosed with breast cancer over age 65 years might have < 2.5% likelihood of a PV in a high-penetrance gene. This study aimed to establish the frequency of PVs and remaining risks of breast cancer for each gene in women over age 65 years.
Published to PubMed This Week
- Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study.
Circulation - TREM2 interacts with TDP-43 and mediates microglial neuroprotection against TDP-43-related neurodegeneration.
Nature Neuroscience - IMPROvE-CED Trial: Intracoronary autologous CD34+ cell therapy for treatment of coronary endothelial dysfunction in patients with angina and non-obstructive coronary arteries.
Circulation Research - USP37 regulates DNA damage response through stabilizing and deubiquitinating BLM.
Nucleic Acids Research - Introduction to 2021 WHO classification of thoracic tumors.
Journal of Thoracic Onocology - Cortical and subcortical pathological burden and neuronal loss in an autopsy series of FTLD-TDP-type C.
Brain - De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.
Proceedings of the National Academy of Sciences of the United States of America - Neurologic effects of gadolinium retention in the brain after gadolinium-based contrast agent administration.
Radiology - Access to and safety of COVID-19 convalescent plasma in the United States Expanded Access Program: A national registry study.
PLoS Medicine - Characterisation of TRIM46 autoantibody-associated paraneoplastic neurological syndrome.
Journal of Neurology, Neurosurgery and Psychiatry
