Table 3

List of BRCA1/2 pathogenetic variations and HRD score on a retrospective series of n=20 patients with HGSOC inspected with commercially available NGS assays

Sample IDGeneCentre #1Centre #2Centre #3
ResultsHRD SOPHiAGSS MyriadResultsHRD scoreResultsGSS
ID_1BRCA1/2WT3.440WTLOH*WT77.7
ID_2BRCA1/2WT16.860WTNEGWT98.7
ID_3BRCA1/2WT5.353WTLOHWT92.7
ID_4BRCA1/2WT−1.647WTLOHWT88.3
ID_5BRCA1/2WT−3.328WTNEGWT17.1
ID_6BRCA1/2WT−11.43p.Glu577AsnfsTer11NEGWT4.1
ID_7BRCA1/2WT−18.818WTNEGWT11.8
ID_8BRCA1/2WT−10.716WTNEGWT7.2
ID_9BRCA1/2WT−1115WTNEGWT19
ID_10BRCA1/2WT−1.423WTNEGNANA
ID_11BRCA1/2WT11.975WTNEGNANA
ID_12BRCA1/2WT−5.415WTNEGWT6.5
ID_13BRCA1/2WT12.656WTNEGWT99.3
ID_14BRCA1/2WT−15.59WTNEGWT7.9
ID_15BRCA1/2WT−21.32WTNEGWT0.7
ID_16BRCA1/2WT14.955WTLOHWT89.7
ID_17BRCA1/2WT−5.734WTNEGWT50.1*
ID_18BRCA1/2WT−12.419WTNEGNANA
ID_19BRCA1/2WT8.156WTLOHWT97.2
ID_20BRCA1/2WT−9.625WTNEGWT19.3
  • HRD positive (green) and negative (red) status is shown.

  • *Borderline results.

  • BRCA, BReast CAncer associated gene; GSS, Genomic Scar Score; HRD, homologous recombination deficiency; ID, identify number; LOH, loss of heterozygosis; NA, not assessed; NEG, negative; NGS, next-generation sequencing; WT, wild-type.