2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Association of high FASLG gene copy number in Burkitt lymphoma with reduced survival probabilities

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The study examined the impact of FASLG gene copy number (CN) and gene expression on patient survival outcomes in Burkitt lymphoma (BL) and breast invasive carcinoma. The FASLG gene is part of the extrinsic apoptosis pathway and is involved in inducing target cell death. The researchers accessed whole genome sequence and whole exome sequence files to analyze FASLG CN and gene expression. They also obtained gene expression levels from TCGA-BRCA files. <br /><br />The results showed that high FASLG CN and gene expression were associated with reduced survival outcomes. The researchers hypothesized that tumor cells with increased FASLG CN have a higher ability to kill immune cells, leading to reduced survival. However, when comparing gene expression values, higher FASLG expression actually showed increased survival, contradicting the CN results and the initial hypothesis. This led to the hypothesis that T-cell infiltration, rather than the cancer itself, may be responsible for the observed survival outcomes.<br /><br />To test this hypothesis, the researchers compared FASLG expression to T-cell markers CD4 and CD8. The results supported a correlation between FASLG gene expression and CD4 and CD8 expression, suggesting that T-cell infiltrate plays a role in survival outcomes. Additionally, the researchers compared FASLG CN to T-cell markers CD4 and CD8 to determine whether the tumor itself was responsible for survival outcomes. The results showed an inverse relationship for TCGA-BRCA but no significant relationship for CGCI-BLGSP. <br /><br />Furthermore, the researchers assessed the correlation of FASLG CN with a neighboring gene's expression and found that CN amplification corresponds to increased gene expression. Overall, the study concludes that high FASLG CN results in high tumor-specific FASLG expression and reduced survival outcomes, while increased T-cell presence leads to increased survival outcomes.

Asset Subtitle

Presenting Author - Elizabeth A. Fletcher, Medical Student; Co-Author - George Blanck, PhD;

Meta Tag

Cancer Syndromes

Genome sequencing

Phenotype

Sequencing

Structure/Function

Co-Author George Blanck, PhD

Presenting Author Elizabeth A. Fletcher, Medical Student

Keywords

FASLG gene copy number

gene expression

patient survival outcomes

Burkitt lymphoma

breast invasive carcinoma

extrinsic apoptosis pathway

T-cell infiltration

CD4 expression

CD8 expression

neighboring gene's expression