Prevalence of somatic mutations in risk genes including <i>BRCA1/2</i> in consecutive ovarian cancer patients (AGO-TR-1 study).

Hahnen, Eric; Baumann, Klaus; Heimbach, André; Reuß, Alexander; Jackisch, Christian; Hauke, Jan; Park‐Simon, Tjoung‐Won; Richters, Lisa; Hanker, Lars; Kroeber, Sandra; Pfisterer, Jacobus; Gevensleben, Heidrun; Schnelzer, Andreas; Dietrich, Dimo; Schneider, Stephanie; Kommoss, Stefan; Marmé, F; Schmutzler, Rita K.; Harter, Philipp

doi:10.1200/jco.2016.34.15_suppl.5544

Cited by 6 publications

(5 citation statements)

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“…Besides, the analysis pipeline on these NGS data is able to detect both SNVs and CNVs, leading therefore to an increase in the detection rate of sBRCA mutations and thus explaining the higher rate of sBRCA mutations in this cohort of OC patients. Without CNVs, sBRCA carriers would represent 6.3%, as previously reported in the literature [ 17 , 18 , 19 , 20 , 21 , 22 ]. Otherwise, tumors are well known to have increased genomic instability and CNVs [ 37 ].…”

Section: Discussionsupporting

confidence: 56%

“…In contrast to germline mutation analysis, somatic BRCA testing is routinely performed using next-generation sequencing (NGS), due to the better sensitivity for analyzing tumor tissue DNA as compared to Sanger methodology. In previous studies, somatic BRCA (sBRCA) mutations have globally been reported in approximately 5–7% of ovarian cancer cases [ 17 , 18 , 19 , 20 , 21 , 22 ]. While the prognostic and predictive roles of gBRCA mutations have been largely demonstrated and shared, it is not entirely clear whether harboring a sBRCA mutation brings the same prognostic and predictive advantages.…”

Section: Introductionmentioning

confidence: 99%

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The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study

et al. 2021

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Previous research involving epithelial ovarian cancer patients showed that, compared to germline BRCA (gBRCA) mutations, somatic BRCA (sBRCA) mutations present a similar positive impact with regard to overall survival (OS) and platinum and PARP (poly (ADP-ribose) polymerase) inhibitor sensitivity. Nevertheless, molecular testing in these studies did not include copy number variation (CNV) analyses of BRCA genes. The aim of this study was to explore the prognostic and predictive role of sBRCA mutations as compared to gBRCA mutations in patients who were also tested for CNVs. Among the 158 patients included in the study, 17.09% of patients carried a pathogenic or likely pathogenic gBRCA variant and 15.19% of patients presented pathogenetic or likely pathogenic sBRCA variants and/or CNVs. Overall, 81.6% of the patients included in this study were diagnosed with a serous histotype, and 77.2% were in advanced stages. Among women diagnosed in advanced stages, gBRCA patients showed better progression-free survival and OS as compared to sBRCA and wild-type patients, whereas sBRCA patients did not show any advantage in outcome as compared to wild-type patients. In this study, the introduction of CNV analyses increased the detection rate of sBRCA mutations, and the resulting classification among gBRCA, sBRCA and wild-type patients was able to properly stratify the prognosis of OC patients. Particularly, sBRCA mutation patients failed to show any outcome advantage as compared to wild-type patients.

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Section: Discussionsupporting

confidence: 56%

Section: Introductionmentioning

confidence: 99%

The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study

et al. 2021

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“…These are somatic mutations containing BRCA1/2 and related gene mutations. One study evaluating monocellular blood and tumor samples from 343 ovarian patients with next-generation sequencing (NGS) and an Agilent SureSelect XT gene panel determined that 84.9% of mutations in BRCA1/2 and other predisposition genes ( ATM, PALB2, RAD15D, FANCM ) were germline and the remainder were somatic 21 .…”

Section: Targeted Molecular Therapiesmentioning

confidence: 99%

Current Ovarian Cancer Maintenance Strategies and Promising New Developments

Gogineni¹,

Morand²,

Staats³

et al. 2021

J. Cancer

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While ovarian cancer typically responds well to front line treatment, many patients will relapse within 5 years. Treatment options are less effective at each recurrence highlighting the need for novel maintenance therapies. PolyADP-ribose polymerase (PARP) inhibitors have recently gained approval in ovarian cancer maintenance. Niraparib was approved regardless of BRCA mutation status, however impact on overall survival is limited. Oliparib was approved for BRCA mutant and BRCA wildtype/homologous recombination deficient patients. This review will focus on current frontline ovarian cancer treatment as well molecularly based approaches to ovarian cancer management.

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“…Allerdings schloss ein Fehlen dieser Risikofaktoren das Vorliegen einer Mutation nicht aus. Eine weitere Analyse dieser Studie beschäftigt sich mit der Häufigkeit von isolierten somatischen Mutationen im Unterschied zu Keimbahnmutationen [3]. Jede Keimbahnmutation konnte über Next Generation Sequenzing (NGS) auch im Tumor nachgewiesen werden.…”

Section: Ovarialkarzinomunclassified