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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
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Mutational and expressional analysis of ERBB3 gene in common solid cancers
Mi Ryoung Choi1, Chang Hyeok An, Yeun Jun Chung
1Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Summary
Recurrent ERBB3 mutations altering Val104 predominantly occur in gastric (GC) and colorectal cancers (CRC). These ERBB3 alterations, alongside increased phosphorylated ERBB3 (pERBB3) levels, suggest a role in GC and CRC tumorigenesis.
Area of Science:
- Oncology
- Molecular Biology
- Cancer Genetics
Background:
- ERBB3 is a receptor tyrosine kinase in the EGFR family, frequently altered in human cancers.
- Somatic mutations in ERBB3, particularly in exon 3 (Val104), have been implicated in gastric cancer (GC) and colorectal cancer (CRC) development.
Purpose of the Study:
- To investigate the prevalence of recurrent ERBB3 exon 3 mutations in GC, CRC, and other malignancies.
- To assess the correlation between ERBB3 mutations and phosphorylated ERBB3 (pERBB3) levels in cancer tissues.
Main Methods:
- Analysis of ERBB3 in 1677 cancer tissue samples using single-strand conformation polymorphism (SSCP) assay.
- Immunohistochemical assessment of pERBB3 expression intensity.
Main Results:
- ERBB3 mutations altering Val104 were identified in 0.5% of GC and 2.2% of CRC cases.
- No ERBB3 mutations were detected in other analyzed cancer types.
- Increased pERBB3 intensity was observed in GC and CRC, with all ERBB3-mutated cancers showing elevated pERBB3 levels.
Conclusions:
- Recurrent ERBB3 mutations at Val104 are specific to GC and CRC.
- ERBB3 alterations, including somatic mutations and increased expression (pERBB3), likely contribute to GC and CRC tumorigenesis.
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