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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Recurrent Somatic Copy Number Alterations and Thei ...
Recurrent Somatic Copy Number Alterations and Their Association with Gene Expression Levels on Cancer Genes in Ovarian Serous Cystadenocarcinoma
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This document discusses the relationship between recurrent somatic copy number alterations (SCNAs) and gene expression levels in ovarian serous cystadenocarcinoma (OSC). The study used data from the Cancer Genome Atlas Pan Cancer dataset to analyze the impact of recurrent SCNA and mRNA gene expression levels in OSC. The results showed that there were 748 genes with recurrent SCNA, and 271 genes had highly correlated SCNA and gene expression levels. From these genes, 25 were classified as Tier 1 CGC-COSMIC genes. Of these Tier 1 genes, 11 had highly correlated recurrent SCNA and gene expression levels. These genes were TBL1XR1, PIK3CA, UBR5, EIF3E, RAD21, EXT1, RECQL4, KRAS, PRKACA, BRD4, and TPM4. Patients with tumors having high expression levels of PRKACA, BRD4, and TPM4 had shorter overall survival (OS). The study also found a borderline negative association between KRAS amplification and shorter OS. However, not all gene amplifications led to alterations in gene expression. For example, MECOM gene amplification did not increase gene expression. The study concluded that several oncogenes, such as BRD4, KRAS, and PIK3CA, were driven by SCNA in OSC. Additionally, PRKACA, BRD4, and TPM4 gene amplifications were prognostically important. Further studies are needed to determine the prognostic significance of KRAS amplification.
Asset Subtitle
Presenting Author - Hillary Esplen, BS; Co-Author - Richard K. Yang, MD, PhD; Co-Author - Awdhesh Kalia, PhD; Co-Author - Zhenya Tang, MD, PhD; Co-Author - Guilin Tang, MD, PhD; Co-Author - L. Jeffrey Medeiros, MD; Co-Author - Gokce Toruner, MD, PhD, FACMG;
Meta Tag
Bioinformatics
Cancer Cytogenetics
Databases
Oncogenesis
Co-Author
Richard K. Yang, MD, PhD
Co-Author
Awdhesh Kalia, PhD
Co-Author
Zhenya Tang, MD, PhD
Co-Author
Guilin Tang, MD, PhD
Co-Author
L. Jeffrey Medeiros, MD
Co-Author
Gokce Toruner, MD, PhD, FACMG
Presenting Author
Hillary Esplen, BS
Keywords
recurrent somatic copy number alterations
gene expression levels
ovarian serous cystadenocarcinoma
OSC
Tier 1 CGC-COSMIC genes
KRAS
PRKACA
BRD4
TPM4
overall survival
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