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Posts classified under: myChoice HRD

MyriadMyRisk  ⁄  myChoice HRD
16Feb2016

How is homologous recombination deficiency (HRD) identified?

February 16, 2016

Homologous recombination deficiency (HRD) is a cellular weakness resulting from the disruption of a major DNA repair pathway. HRD status can be identified by tumor testing.  Because the homologous recombination (HR) pathway can be disrupted by many mechanisms beyond just genetic mutations, relying solely on gene sequencing may miss tumors with other causes of HRD, both known (such as promoter methylation) and unknown.

Relying solely on gene sequencing may miss tumors with other causes of HRD

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Myriad’s newest precision medicine test, myChoiceTM HRD, is an algorithmic measurement of three biomarkers associated with homologous recombination deficiency, combined with next-generation sequencing of the BRCA1 and BRCA2 genes in the tumor.  The three biomarkers, loss of heterozygosity (LOH), telomeric allelic imbalance (TAI), and large-scale state transitions (LST), have all been individually shown to be associated with BRCA1/2 deficiency.1

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However, when combined, the three biomarkers produce a more robust, discriminating measurement of HRD than any of the individual biomarkers alone.1

Read the full analytical validation study for myChoice HRD here.

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myChoice HRD is Myriad’s newest precision medicine test that is helping advance the science of precision medicine for patients with many different types of cancer.3 

Learn more about myChoice HRD here


 References:

 

  • 1. Timms KM et al. Association of BRCA1/2 defects with genomic scores predictive of DNA damage repair deficiency among breast cancer subtypes.  Breast Cancer Research (2014).  16:475.
  • 2. Timms KM et al. DNA repair deficiencies in ovarian cancer: Genomic analysis of high grade serous ovarian tumors from the NOVA study.  Presented at ESMO 2015 Congress.
  • 3. myChoice HRD CDx is considered investigational and has not been reviewed or approved by the FDA.
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