Journal article
Older age should not be a barrier to testing for somatic variants in homologous recombination DNA repair-related genes in patients with high-grade serous ovarian carcinoma
O Pitiyarachchi, YC Lee, HW Sim, S Srirangan, C Mapagu, J Kirk, PR Harnett, RL Balleine, DDL Bowtell, G Samimi, AH Brand, DJ Marsh, P Beale, L Anderson, N Bouantoun, P Provan, SJ Ramus, A DeFazio, M Friedlander
Translational Oncology | Published : 2023
Abstract
Background: Somatic pathogenic variants (PVs) in homologous recombination DNA repair (HR)-related genes found in high-grade serous ovarian carcinomas (HGSC) are not well-characterised in older patients (≥70 years). This may reflect low testing rates in older patients. Methods: Data from 1210 HGSC patients in AACR Project GENIE and 324 patients in an independent dataset INOVATe were analysed. Cases where somatic variants could be distinguished from germline variants were included, and analysis was restricted to those with a somatic TP53 variant, to ensure cases were HGSC. Results: Of 1210 patients in GENIE, 27% (n = 325) were aged ≥70 years at testing. Patients with somatic-only PVs in BRCA2 ..
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Awarded by University of Sydney
Funding Acknowledgements
The authors would like to acknowledge the American Association for Cancer Research and its financial and material support in the development of the AACR Project GENIE registry, as well as the members of the consortium for their commitment to data sharing. Interpretations are the responsibility of study authors. We would like to thank the patients who have consented to take part in the INOVATe study. We also thank the GynBiobank at Westmead, the Kolling Biobanks and the pathology laboratories for their help with sample collection, processing, and storage.INOVATe is supported by Translational Program Grants from the Cancer Institute NSW (14/TPG/1-15), Cancer Council NSW (TPG 20-01), and the University of Sydney.The following sources supported author contributions/research: University Postgraduate Award (UNSW Sydney, O.P.), Maridulu Budyari Gumal (SPHERE) Cancer Clinical Academic Group PhD Scholarship Top-Up Award (O.P.) [This award is supported by a Cancer Institute NSW Research Capacity Building Grant (2021/CBG003)], National Health and Medical Research Council of Australia (NHMRC) Program Grant APP1092856 (M.F.), and NHMRC Grant APP2009840 (S.J.R.).