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Loss of Tumor Suppressor Gene Functions

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...

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Updated: Jul 20, 2026

Optimization of a Multiplex RNA-based Expression Assay Using Breast Cancer Archival Material

Optimization of a Multiplex RNA-based Expression Assay Using Breast Cancer Archival Material

Published on: August 1, 2018

Mutation detection in tumor suppressor genes using archival tissue specimens.

Aristotelis Astrinidis¹, Elizabeth Petri Henske

¹Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, PA, USA.

Methods in Molecular Medicine

|August 26, 2006

Summary

Tuberous sclerosis complex (TSC) involves mutations in TSC1/TSC2 genes, leading to tumor development. This study details methods to detect genetic inactivation in archival tissues, aiding TSC research.

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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Area of Science:

Genetics
Oncology
Molecular Biology

Background:

Tuberous sclerosis complex (TSC) is a genetic disorder causing benign tumors in multiple organs.
Mutations in TSC1 and TSC2 tumor suppressor genes drive TSC pathogenesis via a two-hit model.
Cardiac rhabdomyomas are common in TSC but difficult to study due to spontaneous regression.

Purpose of the Study:

To present a methodology for detecting genetic inactivation of TSC1 and TSC2.
To enable analysis of paraffin-embedded archival tissues for TSC research.
To facilitate the study of genetic alterations in cardiac rhabdomyomas and other TSC-related tumors.

Main Methods:

DNA extraction from paraffin-embedded tissues via scraping or laser capture microdissection.
Loss of heterozygosity (LOH) analysis using PCR amplification of microsatellite markers and gel electrophoresis.
Mutation detection via single-strand conformation polymorphism (SSCP) and direct sequencing of amplified variants.

Main Results:

Established protocols for genetic analysis of TSC1/TSC2 in archival tissues.
Demonstrated feasibility of detecting LOH and mutations in limited tissue samples.
Provided a framework for investigating the genetic basis of TSC-related tumors.

Conclusions:

Archival tissues are a valuable resource for studying TSC genetics.
The presented methodology allows for comprehensive genetic analysis of TSC1 and TSC2.
This approach can advance understanding of TSC tumorigenesis and inform potential therapeutic strategies.