Related Experiment Video
Updated: May 27, 2026

Performing Data Mining And Integrative Analysis Of Biomarker in Breast Cancer Using Multiple Publicly Accessible Databases
Published on: May 17, 2019
PI-PLCβ1 gene copy number alterations in breast cancer
Chiara Molinari1, Laura Medri, Matilde Y Follo
1Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori, Via P. Maroncelli 40, I-47014 Meldola (FC), Italy. c.molinari@irst.emr.it
Abstract:
Deregulation of signal transduction pathways frequently confers selective biological advantages to tumors. Phosphoinositides play an essential role in numerous cellular functions and, among the enzymes implicated in these processes, phosphoinositide-specific phospholipase C β1 (PI-PLCβ1) is one of the key regulators. In the present study, a fluorescence in situ hybridization (FISH) approach was used to investigate PI-PLCβ1 gene copy number alterations in various types of breast cancer differing in their invasiveness and proliferative activity, according to their mitotic index. At the molecular level, we also performed both real-time PCR and immunohistochemical analyses on PI-PLCβ1 to further investigate its expression in primary breast cancers. Finally, we analyzed the correlation between PI-PLCβ1 gene copy number and clinicopathological parameters. Our results show that most of our cases had aneusomies on the PI-PLCβ1 locus (20p12) and amplification of this specific region was the most frequent alteration observed. Our findings also indicate that the amplification of the region containing the PI-PLCβ1 gene was mostly related to the mitotic index, rather than to the invasion status. Finally, even though our case series is limited, PI-PLCβ1 gene amplification seems to be correlated to clinicopathological parameters.
Insights
Amplification of the PI-PLCβ1 gene, a key regulator in cell signaling, was frequently observed in breast cancer. This gene amplification correlated with higher mitotic activity, suggesting a role in tumor proliferation.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Signal transduction pathways are frequently deregulated in cancer, providing selective advantages to tumors.
- Phosphoinositide-specific phospholipase C beta 1 (PI-PLCβ1) is a key regulator of phosphoinositides involved in numerous cellular functions.
Purpose of the Study:
- To investigate PI-PLCβ1 gene copy number alterations in breast cancer using fluorescence in situ hybridization (FISH).
- To analyze PI-PLCβ1 expression at the molecular level via real-time PCR and immunohistochemistry.
- To correlate PI-PLCβ1 gene copy number with clinicopathological parameters in breast cancer.
Main Methods:
- Fluorescence in situ hybridization (FISH) to detect PI-PLCβ1 gene copy number.
- Real-time PCR and immunohistochemical analyses to assess PI-PLCβ1 expression.
- Correlation analysis between PI-PLCβ1 gene copy number and clinicopathological parameters.
Main Results:
- Most breast cancer cases exhibited aneusomies at the PI-PLCβ1 locus (20p12).
- Amplification of the PI-PLCβ1 gene region was the most frequent alteration observed.
- PI-PLCβ1 gene amplification correlated significantly with the mitotic index, indicating a link to proliferative activity, rather than invasion status.
Conclusions:
- PI-PLCβ1 gene amplification is a common event in breast cancer.
- The amplification of PI-PLCβ1 is associated with increased tumor cell proliferation (mitotic index).
- PI-PLCβ1 gene amplification shows a correlation with clinicopathological parameters in breast cancer, warranting further investigation in larger cohorts.
Related Concept Videos
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Genome Copying Errors
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Abnormal Proliferation
Plasmids
