Open AccessIn-house testing for homologous recombination repair deficiency (HRD) testing in ovarian carcinoma: a feasibility study comparing AmoyDx HRD Focus panel with Myriad myChoiceCDx assay
Author(s) -
Caterina Fumagalli,
Ilaria Betella,
Alberto Ranghiero,
Elena GueriniRocco,
Giulio Bonaldo,
Alessandra Rappa,
Davide Vacirca,
Nicoletta Colombo,
Massimo Barberis
Publication year - 2022
Publication title -
pathologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.243
H-Index - 18
eISSN - 1591-951X
pISSN - 0031-2983
DOI - 10.32074/1591-951x-791
Subject(s) - homologous recombination , ovarian carcinoma , focus (optics) , homologous chromosome , medicine , andrology , biology , ovarian cancer , genetics , cancer , optics , physics , dna , gene
Homologous recombination repair (HRR) is the main mechanism of repair of DNA double-strand breaks. Its deficiency (HRD) is a common feature of epithelial ovarian cancers (EOCs). BRCA1/2 mutations and/or other aberrations in genes of HRR are well known causes of HRD and genomic instability. Poly ADP-ribose polymerase inhibitors (PARPi) have revolutionized the management of BRCA mutant EOCs and demonstrated activity in HRD tumor cells. Determining HRD status can provide informations on the magnitude of benefit for PARPi therapy. Myriad MyChoice CDx is a next generation sequencing- based in vitro diagnostic test that assesses the Genomic Instability Score (GIS) which is an algorithmic measurement of loss of heterozygosity, telomeric allelic imbalance, and large-scale state transitions using DNA isolated from formalin-fixed paraffin embedded tumor tissue specimens. However Myriad MyChoice CDx, is a centrally performed and costly assay, with no reimbursement scheduled, at least in Italy.