Related Experiment Video

Updated: Oct 1, 2025

Capturing Common Fragile Site Breaks by Native γH2A.X ChIP
09:46

Capturing Common Fragile Site Breaks by Native γH2A.X ChIP

Published on: January 24, 2025

431

Fanconi anemia proteins and genome fragility: unraveling replication defects for cancer therapy

Nibal Badra Fajardo1, Stavros Taraviras2, Zoi Lygerou1

  • 1Department of General Biology, Medical School, University of Patras, Patras 26504, Greece.

Trends in Cancer
|March 2, 2022
PubMed

Insights

The Fanconi anemia (FA) pathway maintains genome stability by repairing DNA damage and regulating cell cycle checkpoints. FA pathway defects drive cancer development, highlighting its role in tumor cell survival.

Area of Science:

  • Molecular Biology
  • Genetics
  • Cancer Research

Background:

  • Accurate genome duplication is vital for cell survival and preventing cancer.
  • The Fanconi anemia (FA) pathway is traditionally linked to DNA interstrand crosslink repair.
  • Emerging evidence implicates FA proteins in broader DNA damage response and genome integrity maintenance.

Purpose of the Study:

  • To review the current understanding of the Fanconi anemia (FA) pathway in safeguarding genome stability during DNA replication.
  • To discuss the role of FA proteins in responding to various DNA impediments.
  • To explore novel targets for cancer therapy in FA-deficient tumors.

Main Methods:

  • Literature review of recent studies on the Fanconi anemia (FA) pathway.
  • Analysis of FA protein functions in cell-cycle checkpoint regulation and replication fork remodeling.
  • Discussion of genetic alterations in FA genes and their link to tumorigenesis.

Main Results:

  • The FA pathway is essential for preserving genome integrity against diverse DNA insults.
  • FA proteins play critical roles beyond interstrand crosslink repair, including checkpoint control and replication fork management.
  • Defects in the FA pathway contribute significantly to genomic instability and cancer development.

Conclusions:

  • The Fanconi anemia (FA) pathway is a fundamental mechanism for maintaining genome stability during replication and in response to DNA damage.
  • Understanding FA signaling is crucial for comprehending cancer development and identifying therapeutic strategies for FA-deficient cancers.
  • Novel determinants of cancer cell survival in FA-deficient tumors represent promising targets for future cancer treatments.
Keywords:
DNA repairFanconi anemiacheckpoint regulationfork stabilityreplication stresssynthetic lethality

More Related Videos

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells11:06

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

13.2K
Detection of Post-Replicative Gaps Accumulation and Repair in Human Cells Using the DNA Fiber Assay10:32

Detection of Post-Replicative Gaps Accumulation and Repair in Human Cells Using the DNA Fiber Assay

Published on: February 3, 2022

6.8K

Related Concept Videos

The DNA Replication Fork01:02

The DNA Replication Fork

An organism’s genome needs to be duplicated in an efficient and error-free manner for its growth and survival. The replication fork is a Y-shaped active region where two strands of DNA are separated and replicated continuously. The coupling of DNA unzipping and complementary strand synthesis is a characteristic feature of a replication fork.   Organisms with small circular DNA, such as E. coli, often have a single origin of replication; therefore, they have only two replication...
37.3K
DNA Damage can Stall the Cell Cycle02:37

DNA Damage can Stall the Cell Cycle

In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
9.4K
Restarting Stalled Replication Forks02:37

Restarting Stalled Replication Forks

DNA replication is initiated at sites containing predefined DNA sequences known as origins of replication. DNA is unwound at these sites by the minichromosome maintenance (MCM) helicase and other factors such as Cdc45 and the associated GINS complex.The unwound single strands are protected by replication protein A (RPA) until DNA polymerase starts synthesizing DNA at the 5’ end of the strand in the same direction as the replication fork. To prevent the replication fork from falling apart,...
6.0K
Nucleotide Excision Repair01:38

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
3.9K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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.
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,...
4.2K
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...
8.3K