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1 lut 2024 · Universal genetic testing is recommended at the time of HGSOC diagnosis with most guidelines suggesting germline genetic testing followed by somatic testing, including HRD, for patients without a gBRCAm.
These results highlight that in-house methods display a high interassay and interlaboratory reproducibility. Moreover, the comparison with a clinically validated HRD testing assay (MyChoice Cdx Myriad HRD test) revealed a high percentage of agreement for both the Amoy HRD focus panel (88.2%) and SOPHiA DDM HRD Solution panel (90%).
28 wrz 2020 · These HRD tests fall into three main categories: (i) HRR pathway related genes that identify specific causes of HRD, (ii) genomic ‘scars’ or mutational signatures that measure the patterns of somatic mutations that accumulate in HRD cancers irrespective of the underlying defect and (iii) functional assays that have the potential to provide ...
30 lis 2021 · Ovarian cancers harbouring HRR deficiency typically exhibit sensitivity to poly-ADP ribose polymerase inhibitors (PARPi). Current guidelines recommend a range of approaches for genetic testing to identify predictors of sensitivity to PARPi in ovarian cancer and to identify genetic predisposition.
28 paź 2021 · Genetic variations in essential homologous recombination genes, including BRCA1 and BRCA2 results in homologous recombination deficiency (HRD) and can be a target for therapeutic strategies including poly (ADP-ribose) polymerase inhibitors (PARPi).
17 lip 2024 · The main international guidelines strongly recommend the use of the homologous recombination deficiency (HRD) test in the selection of first-line maintenance therapy for patients with high-grade serous ovarian cancer.
8 paź 2024 · Homologous recombination deficiency (HRD) is recognized as a pan-cancer predictive biomarker that potentially indicates who could benefit from treatment with PARP inhibitors (PARPi). Despite its clinical significance, HRD testing is highly complex.
