Prevalence of BRCA homopolymeric indels in an ION Torrent-based tumour-to-germline testing workflow in high-grade ovarian carcinoma

[1]  Raffi Tonikian,et al.  Testing for homologous recombination repair or homologous recombination deficiency for poly (ADP-ribose) polymerase inhibitors: A current perspective. , 2022, European journal of cancer.

[2]  M. Ladanyi,et al.  Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of “Second Hit” in Germline BRCA1-Associated Pancreatic Ductal Adenocarcinoma , 2022, Molecular Diagnosis & Therapy.

[3]  N. Pavlidis,et al.  BRCA Mutations in Ovarian and Prostate Cancer: Bench to Bedside , 2022, Cancers.

[4]  Pham Nguyen Quy,et al.  Germline sequencing for presumed germline pathogenic variants via tumor-only comprehensive genomic profiling , 2022, International Journal of Clinical Oncology.

[5]  N. Pavlidis,et al.  Systematic review of the CUP trials characteristics and perspectives for next-generation studies. , 2022, Cancer treatment reviews.

[6]  S. Manoukian,et al.  Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model , 2022, Frontiers in Oncology.

[7]  R. Kurzrock,et al.  Precision medicine‐based therapies in advanced colorectal cancer: The University of California San Diego Molecular Tumor Board experience , 2022, Molecular oncology.

[8]  M. Ladanyi,et al.  Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing , 2022, Annals of oncology : official journal of the European Society for Medical Oncology.

[9]  J. Barrett,et al.  Concordance of BRCA mutation detection in tumor versus blood, and frequency of bi-allelic loss of BRCA in tumors from patients in the phase III SOLO2 trial. , 2021, Gynecologic oncology.

[10]  L. Macconaill,et al.  Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing , 2021, bioRxiv.

[11]  R. Nussbaum,et al.  Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer , 2020, JAMA network open.

[12]  M. Griffith,et al.  Neoantigen prediction and computational perspectives towards clinical benefit: Recommendations from the ESMO Precision Medicine Working Group. , 2020, Annals of oncology : official journal of the European Society for Medical Oncology.

[13]  A. Khorana,et al.  Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study , 2020, JNCI cancer spectrum.

[14]  M. Okano,et al.  Cohort Study , 2020, Definitions.

[15]  Marilyn M. Li,et al.  Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition. , 2019, JCO precision oncology.

[16]  Alexander V Penson,et al.  Development of Genome-Derived Tumor Type Prediction to Inform Clinical Cancer Care. , 2019, JAMA oncology.

[17]  K. Nathanson,et al.  Identification and Confirmation of Potentially Actionable Germline Mutations in Tumor-Only Genomic Sequencing. , 2019, JCO Precision Oncology.

[18]  S. Tomao,et al.  RE: Universal tumor DNA BRCA1/2 testing of ovarian cancer: prescreening PARPi treatment and genetic predisposition. , 2019, Journal of the National Cancer Institute.

[19]  M. C. Vos,et al.  Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition , 2019, Journal of the National Cancer Institute.

[20]  B. Taylor,et al.  Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group , 2019, Annals of oncology : official journal of the European Society for Medical Oncology.

[21]  A. Vral,et al.  Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits. , 2018, Cancer letters.

[22]  P. Scheet,et al.  Strategies for identification of somatic variants using the Ion Torrent deep targeted sequencing platform , 2018, BMC Bioinformatics.

[23]  K. Ding,et al.  Comparison of error correction algorithms for Ion Torrent PGM data: application to hepatitis B virus , 2017, Scientific Reports.

[24]  D. di Lorenzo,et al.  Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations. , 2017, Experimental and molecular pathology.

[25]  B. Taylor,et al.  Implementing Genome-Driven Oncology , 2017, Cell.

[26]  Yadong Wang,et al.  Improving alignment accuracy on homopolymer regions for semiconductor-based sequencing technologies , 2016, BMC Genomics.

[27]  Tom Walsh,et al.  Inherited Mutations in Women With Ovarian Carcinoma. , 2016, JAMA oncology.

[28]  David Laehnemann,et al.  Denoising DNA deep sequencing data—high-throughput sequencing errors and their correction , 2015, Briefings Bioinform..

[29]  B. Fridley,et al.  The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. , 2014, Human molecular genetics.

[30]  N. Baena,et al.  Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing , 2014, BioMed research international.

[31]  Z. Yeo,et al.  Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes , 2014, BMC Genomics.

[32]  Alex M. Fichtenholtz,et al.  Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing , 2013, Nature Biotechnology.

[33]  E. Barillot,et al.  Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model , 2013, European Journal of Human Genetics.

[34]  Levi A Garraway,et al.  Genomics-driven oncology: framework for an emerging paradigm. , 2013, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[35]  Ignacio Blanco,et al.  Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes , 2012, European Journal of Human Genetics.

[36]  T. Dallman,et al.  Performance comparison of benchtop high-throughput sequencing platforms , 2012, Nature Biotechnology.

[37]  J. Tchinda,et al.  Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. , 2006, Science.

[38]  J. Tchinda,et al.  Recurrent Fusion of TMPRSS2 and ETS Transcription Factor Genes in Prostate Cancer , 2005, Science.

[39]  Soon-Cheang Quah,et al.  A Current Perspective , 2007 .

[40]  L. Trümper.  From bench to bedside , 2005, Medizinische Klinik.