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Increased AID Results in Mutations at the CRLF2 Locus Implicated in Latin American ALL Health Disparities

ABSTRACT: Increased AID Results in Mutations at the CRLF2 Locus Implicated in Latin American ALL Health Disparities

PROVIDER: PRJNA1019358 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR26126013_1.fastq.gz	Fastqsanger.gz
	SRR26126013_2.fastq.gz	Fastqsanger.gz
	SRR26126014_1.fastq.gz	Fastqsanger.gz
	SRR26126014_2.fastq.gz	Fastqsanger.gz
	SRR26126015_1.fastq.gz	Fastqsanger.gz

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Increased AID Results in Mutations at the CRLF2 Locus Implicated in Latin American ALL Health Disparities

Project description:Activation-induced cytidine deaminase (AID) is a B cell-specific base editor required during class switch recombination and somatic hypermutation for B cell maturation and antibody diversification. However, it has also been implicated as a factor in the etiology of several B cell malignancies. Evaluating the AID-induced mutation load in patients at-risk for certain types of blood cancers is critical in assessing disease severity and treatment options. Here, we have developed a digital PCR (dPCR) assay that allows us to track the mutational landscape resulting from AID modification or DNA double-strand break (DSB) formation and repair at sites known to be prone to DSBs. Implementation of this new assay showed that increased AID levels in immature B cells increases genome instability at loci linked to translocation formation. This included the CRLF2 locus that is often involved in chromosomal translocations associated with a subtype of acute lymphoblastic leukemia (ALL) that disproportionately affects Latin Americans (LAs). To support this LA-specific identification of AID mutation signatures, we characterized DNA from immature B cells isolated from the bone marrow of ALL patients. Our ability to detect and quantify these mutation signatures will potentiate future risk identification, early detection of cancers, and reduction of associated cancer health disparities.

2024-04-13 | GSE243667 | GEO

Project description:Increased AID Results in Mutations at the CRLF2 Locus Implicated in Latin American ALL Health Disparities

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Increased AID Results in Mutations at the CRLF2 Locus Implicated in Latin American ALL Health Disparities.

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Genetic analysis of Latin American Breast Cancer

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Characterization of the mutational landscape of high-grade gliomas in a Latin American cohort

Project description:We conducted a targeted genomic analysis using next-generation sequencing techniques in 70 Chilean patients with high-grade gliomas from a national single-center referral institution. We focused on relevant molecular markers such as mutations in isocitrate dehydrogenase 1/2 (IDH), telomerase reverse transcriptase promoter (TERTp), histone 3 (H3) gene family, TP53 and PTEN, epidermal growth factor receptor (EGFR) gene amplification, and cyclin-dependent kinase inhibitor 2A (CDKN2A) deletions. Survival analyses were performed to assess the clinical relevance and their impact on patient prognosis. Additionally, we explored the endoplasmic reticulum stress-related gene ERN1 due to its potential role in high-grade gliomas. This study underscores the importance of glioblastoma research in underrepresented populations, providing insights into high-grade gliomas molecular characteristics within Latin America. Our findings contribute to the growing evidence suggesting molecular diversity across glioblastoma populations, offering a foundation for future international comparative studies.

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Molecular Disparities in Colorectal Cancers of White Americans, Alabama African Americans, and Oklahoma American Indians

Project description:In the US, the majority of cancer samples analyzed are from white people, leading to biases in racial and ethnic treatment outcomes. Colorectal cancer (CRC) incidence and mortality rates are high in Alabama African Americans (AAs) and Oklahoma American Indians (AIs). We hypothesized that differences between racial groups may partially explain these disparities. Thus, we compared transcriptomic profiles of CRCs of Alabama AAs, Oklahoma AIs, and white people from both states. Compared to CRCs of white people, CRCs of AAs showed (a) higher expression of cytokines and vesicle trafficking toward modulated antitumor-immune activity, and (b) lower expression of the ID1/BMP/SMAD axis, IL22RA1, APOBEC3, and Mucins; and AIs had (c) higher expression of PTGS2/COX2 (an NSAID target/pro-oncogenic inflammation) and splicing regulators, and (d) lower tumor suppressor activities (e.g., TOB2, PCGF2, BAP1). Therefore, targeting strategies designed for white CRC patients may be less effective for AAs/AIs. These findings illustrate needs to develop optimized interventions to overcome racial CRC disparities.

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