ArticleOncotarget2016
Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.
Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Diagnostic performance of GcfDNA in kidney allograft rejection: a meta-analysis.Frontiers in physiology · 2023Pooled it
- GermlinePathology oncology research : POR · 2026Article
- Article
- SIUrO best practice recommendations to optimize BRCA 1/2 gene testing from DNA extracted from bone biopsy in mCRPC patients (BRCA Optimal Bone Biopsy Procedure: BOP).Virchows Archiv : an international journal of pathology · 2023Review
- Characterization of BRCA Deficiency in Ovarian Cancer.Cancers · 2023Article
- Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol.Journal of personalized medicine · 2021Article
- Practical considerations for optimising homologous recombination repair mutation testing in patients with metastatic prostate cancer.The journal of pathology. Clinical research · 2021Review
- From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin.Diagnostics (Basel, Switzerland) · 2019Article
- Identification of novelPeerJ · 2019Article
- Next-generation sequencing ofPeerJ · 2019Article
- Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.Journal of translational medicine · 2018Article
- Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants inCancer research and treatment · 2018Article
- Simultaneous detection of genetic and copy number alterations inOncotarget · 2017Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The development of breast and ovarian cancer is strongly connected to the inactivation of the BRCA1 and BRCA2 genes by different germline and somatic alterations, and their diagnosis has great significance in targeted tumor therapy, since recently approved PARP inhibitors show high efficiency in the treatment of BRCA-deficient tumors. This raises the need for new diagnostic methods that are capable of performing an integrative mutation analysis of the BRCA genes not only from germline DNA but also from formalin-fixed and paraffin-embedded (FFPE) tumor samples. Here we describe the development of such a methodology based on next-generation sequencing and a new bioinformatics software for data analysis. The diagnostic method was initially developed on an Illumina MiSeq NGS platform using germline-mutated stem cell lines and then adapted for the Ion Torrent PGM NGS platform as well. We also investigated the usability of NGS coverage data for the detection of copy number variations and exon deletions as a replacement of the conventional MLPA technique. Finally, we tested the developed workflow on FFPE samples from breast and ovarian cancer patients. Our method meets the sensitivity and specificity requirements for the genetic diagnosis of breast and ovarian cancers both from germline and FFPE samples.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.