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. 2023 May 28;15(11):2955. doi: 10.3390/cancers15112955

Table 1.

Select Tests to Evaluate for HRD (not specific to pancreatic cancer).

Test Description
Telomeric Allelic Imbalance (TAI) [28] Allelic imbalance at the telomere of the chromosome is due to the propensity for inappropriate end joining in HRD, identified by single nucleotide polymorphism (SNP) genotyping.
Large Scale Transitions (LST) [29] Chromosomal breaks larger than 10 Mb, which arise in HRD cells secondary to erroneous recombination between segments of the chromosome, are identified by single nucleotide polymorphism (SNP) genotyping.
Loss of Heterozygosity (LOH) [30] Uniparental disomy is owing to inaccurate repair of sister chromatids during S/G2 phase, resulting in the loss of entire genes and the surrounding chromosomal region, as identified by single nucleotide polymorphism (SNP) genotyping.
Genomic Instability Score eg by Myriad Genetics MyChoice Assay TAI + LST + LOH
Signature 3 (Sig 3) [35] A single base substitution mutational pattern, associated with microhomology and large deletions, was identified by whole exome sequencing.
HRDetect [36] A weighted model incorporating a weighted score of base substitution/rearrangement signatures, microhomology-mediated deletions, and an HRD score based on genomic scars identified by whole exome sequencing.