Publications by authors named "M Bourgey"
The basal breast cancer subtype is enriched for triple-negative breast cancer (TNBC) and displays consistent large chromosomal deletions. Here, we characterize evolution and maintenance of chromosome 4p (chr4p) loss in basal breast cancer. Analysis of The Cancer Genome Atlas data shows recurrent deletion of chr4p in basal breast cancer.
View Article and Find Full Text PDFWhole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases. Yet, due to the prohibitive cost of high-depth WGS, most large-scale genetic association studies use genotyping arrays or high-depth whole exome sequencing (WES). Here we propose a cost-effective method which we call "Whole Exome Genome Sequencing" (WEGS), that combines low-depth WGS and high-depth WES with up to 8 samples pooled and sequenced simultaneously (multiplexed).
View Article and Find Full Text PDFPerivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in up to 40,095 participants (18 population-based cohorts, 66.3 ± 8.
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- Inborn errors affecting the immune response to IFN-γ lead to mycobacterial diseases, while errors in IFN-α/β impact defense against viral infections.
- A study of children with complete IRF1 deficiency showed they suffered from severe mycobacterial infections but displayed normal responses to various viruses, including SARS-CoV-2.
- IRF1 plays a crucial role in the immune response to mycobacteria, enhancing IFN-γ responses, while its absence does not significantly hinder antiviral defenses associated with IFN-α/β.
Article Synopsis
- Patients with inherited CARMIL2 or CD28 deficiencies show defective T cell signaling, but CARMIL2's role is less understood.
- Research indicates that the mutant CARMIL2 alleles affect T cell activation and lead to specific immunological issues including low counts of memory T cells and NK cells, as well as weak antibody responses.
- CARMIL2 deficiency leads to serious health issues by age 10, including frequent infections and inflammation, and milder symptoms are observed in patients with somatic reversions in T cells.