Genome Signature (HRD) - Homologous Recombination Deficiency

What is GENOME SIGNATURE (HRD) test?

The Genome Signature HRD (Homologous Recombination Deficiency) test is a comprehensive genomic assay that evaluates the overall DNA repair capability of tumor cells.

• It assesses mutations in HRR genes (homologous recombination repair genes) along with genomic instability markers.
• Key components of the test include:
1. HRR Genes: Detects mutations in genes responsible for DNA double-strand break repair.
2. Genomic Instability Score : Measures the level of DNA damage and chromosomal instability in the tumor.
3. Loss of Heterozygosity (LOH): Evaluates regions where one allele of a gene is lost, indicating genomic instability.
• This test provides a composite picture of homologous recombination deficiency, which can influence cancer progression and therapy response.

Why consider GENOME SIGNATURE (HRD) test?

Genome Signature HRD (Homologous Recombination Deficiency) test  is valuable to:

• Identify tumors with homologous recombination deficiency, which are often sensitive to PARP inhibitors.
• Assess genomic instability, which is associated with aggressive tumor behavior.
• Guide personalized cancer therapy and predict response to targeted treatments.
• Support risk stratification and treatment planning in patients with ovarian, breast, prostate, or pancreatic cancers.
• Provide insight into tumor biology for precision oncology approaches.

Who should get tested for GENOME SIGNATURE (HRD) test?

Genome Signature HRD (Homologous Recombination Deficiency) test is recommended for:

• Patients with advanced or metastatic cancers being considered for PARP inhibitor therapy.
• Individuals with tumors suspected of HRD based on family history or prior genetic testing.
• Clinicians seeking to optimize targeted therapy based on tumor genomic profile.
• Patients requiring prognostic and predictive information about tumor aggressiveness.

More Information

OTHER NAMES: HRD Genome Signature Test, Homologous Recombination Deficiency Assay, Genomic Instability Panel

• Homologous recombination (HR) is a natural DNA repair mechanism that fixes double-strand breaks in DNA accurately using a sister chromatid as a template.
• HRD occurs when this repair pathway is defective, meaning the cell cannot properly repair DNA damage.
• This deficiency leads to genomic instability, which can drive cancer development, especially in ovarian, breast, prostate, and pancreatic cancers.

• Tumors with HRD are more sensitive to certain therapies, like:

• PARP inhibitors (e.g., olaparib, niraparib) – these block alternative DNA repair, causing cancer cell death.
• Platinum-based chemotherapies (like cisplatin, carboplatin).

• Testing for HRD helps in personalized cancer treatment.