Related Experiment Video

Updated: Apr 16, 2026

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
09:37

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells

Published on: August 25, 2021

2.3K

Targeted therapy for genetic cancer syndromes: Fanconi anemia, medullary thyroid cancer, tuberous sclerosis, and

Rishi Agarwal1, Sarah Liebe2, Michelle L Turski3

  • 1Department of Medicine Division of Hematology/Oncology, University of Cincinnati, Cincinnati, OH 45267, USA.

Discovery Medicine
|March 1, 2015
PubMed

Insights

Targeted therapies offer new hope for rare genetic cancer syndromes like Fanconi anemia and RASopathies. This review details molecularly targeted treatments for these understudied conditions, aiding clinical management.

Area of Science:

  • Oncology
  • Genetics
  • Pharmacology

Background:

  • Genomics-based treatments and targeted therapies are increasingly used for malignancies.
  • Genetic cancer syndromes are underrepresented in targeted therapy research.
  • Limited literature exists on targeted therapy efficacy for rare genetic conditions.

Purpose of the Study:

  • To review targeted therapy options for specific genetic cancer syndromes.
  • To characterize the pathophysiology and molecular targets for Fanconi anemia, inherited medullary thyroid cancer, tuberous sclerosis, and RASopathies.
  • To inform oncologists, geneticists, and genetic counselors on managing these rare syndromes.

Main Methods:

  • Literature review of targeted therapies for genetic cancer syndromes.
  • Analysis of the pathophysiology of selected syndromes.
  • Identification of available molecularly targeted agents.

Main Results:

  • Fanconi anemia, inherited medullary thyroid cancer, tuberous sclerosis, and RASopathies have distinct genetic underpinnings.
  • Specific molecular targets and targeted therapies are emerging for these conditions.
  • Understanding pathophysiology is key to selecting appropriate therapies.

Conclusions:

  • Targeted therapies hold promise for managing genetic cancer syndromes.
  • Further research is needed to expand treatment options.
  • Multidisciplinary collaboration is essential for effective patient management.

More Related Videos

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.9K
Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts10:27

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

Published on: July 25, 2020

8.1K

Related Concept Videos

Targeted Cancer Therapies02:57

Targeted Cancer Therapies

The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
9.2K
Targeted Cancer Therapies02:57

Targeted Cancer Therapies

1.8K
Combination Therapies and Personalized Medicine02:50

Combination Therapies and Personalized Medicine

Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
6.4K
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
72
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
10.4K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

3.1K