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Related Concept Videos

Homologous Recombination02:31

Homologous Recombination

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The basic reaction of homologous recombination (HR) involves two chromatids that contain DNA sequences sharing a significant stretch of identity. One of these sequences uses a strand from another as a template to synthesize DNA in an enzyme-catalyzed reaction. The final product is a novel amalgamation of the two substrates. To ensure an accurate recombination of sequences, HR is restricted to the S and G2 phases of the cell cycle. At these stages, the DNA has been replicated already and the...
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Crossing Over01:30

Crossing Over

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Crossing over is the exchange of genetic information between homologous chromosomes during prophase I of meiosis I. Genetic recombination gives rise to allelic diversity in the newly formed daughter cells. In humans, crossing over produces genetically distinct haploid egg and sperm cells that undergo fertilization to produce unique offspring. Before cell division starts, the germ cell’s chromosome(s) undergo duplication in the S phase of the cell cycle. As the cells enter prophase I,...
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Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
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Gene Conversion02:08

Gene Conversion

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Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
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Mismatch Repair01:20

Mismatch Repair

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
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Exon Recombination02:32

Exon Recombination

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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
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Updated: Sep 30, 2025

Detection of Homologous Recombination Intermediates via Proximity Ligation and Quantitative PCR in Saccharomyces cerevisiae
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Homologous Recombination Deficiency: Concepts, Definitions, and Assays.

Mark D Stewart1, Diana Merino Vega1, Rebecca C Arend2

  • 1Friends of Cancer Research, Washington, DC, USA.

The Oncologist
|March 11, 2022
PubMed
Summary
This summary is machine-generated.

Homologous recombination deficiency (HRD) impacts cancer treatment. Standardizing HRD diagnostics is crucial for identifying patients who benefit from PARP inhibitors and platinum chemotherapy.

Keywords:
BRCA1BRCA2DNA repairbiomarkershomologous recombinationpoly(ADP-ribose) polymerase inhibitorstumor

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Homologous recombination deficiency (HRD) impairs DNA repair, creating synthetic lethality with certain cancer therapies.
  • Loss-of-function mutations in homologous repair (HR) genes predict sensitivity to PARP inhibitors and platinum chemotherapy.
  • Current diagnostic methods lack standardization for defining and measuring HRD in clinical settings.

Purpose of the Study:

  • To address the inconsistency in defining and measuring HRD.
  • To foster alignment in HRD diagnostics across different platforms.
  • To improve patient identification for targeted cancer therapies.

Main Methods:

  • Convened a consortium of key healthcare sector partners.
  • Facilitated discussions among project partners to identify alignment opportunities.
  • Synthesized findings to propose recommendations and best practices.

Main Results:

  • Identified opportunities to standardize the definition of HRD.
  • Established parameters for determining HR status.
  • Developed recommendations and best practices for the cancer community.

Conclusions:

  • Standardized HRD diagnostics are essential for clinical decision-making.
  • Alignment in HRD measurement benefits scientists, physicians, and patients.
  • This work provides perspectives to contextualize HRD definition and measurement platforms.