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Verfasst von:Balendran, Sukirthini [VerfasserIn]   i
 Bergmeister-Berghoff, Anna Sophie [VerfasserIn]   i
Titel:Next-Generation Sequencing-based genomic profiling of brain metastases of primary ovarian cancer identifies high number of BRCA-mutations
Verf.angabe:S. Balendran, S. Liebmann-Reindl, A.S. Berghoff, T. Reischer, N. Popitsch, C.B. Geier, L. Kenner, P. Birner, B. Streubel, M. Preusser
E-Jahr:2017
Jahr:11 May 2017
Umfang:8 S.
Fussnoten:Gesehen am 06.09.2018
Titel Quelle:Enthalten in: Journal of neuro-oncology
Ort Quelle:Dordrecht [u.a.] : Springer Science + Business Media B.V, 1983
Jahr Quelle:2017
Band/Heft Quelle:133(2017), 3, Seite 469-476
ISSN Quelle:1573-7373
Abstract:Ovarian cancer represents the most common gynaecological malignancy and has the highest mortality of all female reproductive cancers. It has a rare predilection to develop brain metastases (BM). In this study, we evaluated the mutational profile of ovarian cancer metastases through Next-Generation Sequencing (NGS) with the aim of identifying potential clinically actionable genetic alterations with options for small molecule targeted therapy. Library preparation was conducted using Illumina TruSight Rapid Capture Kit in combination with a cancer specific enrichment kit covering 94 genes. BRCA-mutations were confirmed by using TruSeq Custom Amplicon Low Input Kit in combination with a custom-designed BRCA gene panel. In our cohort all eight sequenced BM samples exhibited a multitude of variant alterations, each with unique molecular profiles. The 37 identified variants were distributed over 22 cancer-related genes (23.4%). The number of mutated genes per sample ranged from 3 to 7 with a median of 4.5. The most commonly altered genes were BRCA1/2, TP53, and ATM. In total, 7 out of 8 samples revealed either a BRCA1 or a BRCA2 pathogenic mutation. Furthermore, all eight BM samples showed mutations in at least one DNA repair gene. Our NGS study of BM of ovarian carcinoma revealed a significant number of BRCA-mutations beside TP53, ATM and CHEK2 mutations. These findings strongly suggest the implication of BRCA and DNA repair malfunction in ovarian cancer metastasizing to the brain. Based on these findings, pharmacological PARP inhibition could be one potential targeted therapeutic for brain metastatic ovarian cancer patients.
DOI:doi:10.1007/s11060-017-2459-z
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

kostenfrei: Volltext: http://dx.doi.org/10.1007/s11060-017-2459-z
 kostenfrei: Volltext: https://doi.org/10.1007/s11060-017-2459-z
 DOI: https://doi.org/10.1007/s11060-017-2459-z
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:ATM
 Brain metastases
 BRCA1/2
 Next-Generation Sequencing
 Ovarian cancer
 TP53
K10plus-PPN:1580753647
Verknüpfungen:→ Zeitschrift

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