A5093394074- Multiple Myeloma Research and Treatments
- Protein Degradation and Inhibitors
- Chromatin Remodeling and Cancer
- Cancer therapeutics and mechanisms
- Congenital Diaphragmatic Hernia Studies
- Epigenetics and DNA Methylation
- Signaling Pathways in Disease
- Cancer Genomics and Diagnostics
- Erythrocyte Function and Pathophysiology
- Hemoglobinopathies and Related Disorders
- Neonatal Respiratory Health Research
Icahn School of Medicine at Mount Sinai
2023-2024
University of Wisconsin–Madison
2024
First-degree relatives of patients with multiple myeloma are at increased risk for the disease, but contribution pathogenic germline variants (PGV) in hereditary cancer genes to and outcomes is not well characterized. To address this, we analyzed exomes two independent cohorts 895 786 myeloma. PGVs were identified 8.6% Discovery cohort 11.5% Replication cohort, a notable presence high- or moderate-penetrance (associated autosomal dominant predisposition) DNA repair (3.6% 4.1%, respectively)....
A major barrier to the impact of genomic diagnosis in patients with congenital malformations is lack understanding regarding how sequence variants contribute disease pathogenesis and whether this information could be used generate patient-specific therapies. Congenital diaphragmatic hernia (CDH) among most common severe all structural malformations; however, its underlying mechanisms are unclear. We identified loss-of-function epigenomic regulator gene
<p>SUPPLEMENTARY FIGURE 3: PFS1 and OS in PGV-B/C carriers vs non-carriers (combined cohort)</p>
<div>Abstract<p>First-degree relatives of patients with multiple myeloma are at increased risk for the disease, but contribution pathogenic germline variants (PGV) in hereditary cancer genes to and outcomes is not well characterized. To address this, we analyzed exomes two independent cohorts 895 786 myeloma. PGVs were identified 8.6% Discovery cohort 11.5% Replication cohort, a notable presence high- or moderate-penetrance (associated autosomal dominant predisposition) DNA...
<p>SUPPLEMENTARY FIGURE 4: Concordance of Genetically-Determined Ancestry and Self-Reported Race in a subset patients from the Discovery Cohort (MMRF CoMMpass dataset)</p>
<p>SUPPLEMENTARY FIGURE 1: Output of Cox Proportional Hazards Model for Multivariate PFS1 Analysis in HDM-ASCT Recipients with MM (Combined Cohort)</p>
<p>SUPPLEMENTARY FIGURE 2: Overall Survival (OS) in PGV-A carriers vs non-carriers</p>