| Autor: |
Pitiyarachchi, O, Lee, YC, Sim, H-W, Srirangan, S, Mapagu, C, Kirk, J, Harnett, PR, Balleine, RL, Bowtell, DDL, Samimi, G, Brand, AH, Marsh, DJ, Beale, P, Anderson, L, Bouantoun, N, Provan, P, INOVATe Investigators, Ramus, SJ, DeFazio, A, Friedlander, M |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Popis: |
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 were older compared with BRCA1 (median 71 vs 60 years, p = 0.002). Median age for 21 patients with somatic-only PVs in 11 other HR-related genes ranged from 40 to 67 years. In older patients, 7% (n = 22) had somatic BRCA1/2 PVs, and 1% (n = 2) had PVs other HR-related genes; this rate was not significantly different to younger patients ( |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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