Skin cancer is one of the most common forms of cancer, with nearly 3 million people globally affected each year.* Of every 3 diagnosed cancers, 1 is a skin cancer.** While basal cell carcinoma, squamous cell carcinoma, and melanoma are the most common types, there are several rare skin cancers that are often underrepresented in scientific literature.
The latest Catalogue of Somatic Mutations in Cancer (COSMIC) release, v98, focuses on rarer skin cancers like adnexal tumors, Merkel cell carcinoma, Kaposi sarcoma, dermatofibrosarcoma protuberans, and extramammary Paget's disease—providing deeper insight into the somatic mutations behind them and their clinical implications.
The inclusion of these rare skin tumors in COSMIC will allow clinicians to better understand the molecular mechanisms behind these cancers, which in turn aids in more accurate diagnosis and personalized treatment planning. Now, researchers and drug developers have more resources to help identify potential drug targets and develop new precision therapies for rare skin cancers.
In COSMIC v98, 776 new samples were curated from publications and 25,236 new variants were found in the rare skin tumors newly included. 17 new skin tumor types or subtypes were added to the histology classification system. Users can explore all of the variant data and sample metadata using the COSMIC Cancer Browser on the website. All the tumor types in COSMIC derive from samples that have been found to have somatic mutations in them.
The COSMIC v98 release marks a significant step forward in addressing the underrepresentation of rare skin cancers in scientific literature and databases.
→ Learn more about COSMIC here. (more…)
Meet us at ASHG 2016
Together with leading scientists and clinicians from around the world we will present recent findings at ASHG in Vancouver, Canada October 18-22. You can meet us in the exhibit hall where we'll have a series of presentations in our booth, at the poster sessions, or you can join our workshop where invited speakers will present their NGS sample to insight solutions.
Sample to Insight NGS solutions: Multimodal liquid biopsy WGS, trio and family analyses, and RNA sequencing analysis and interpretation
Date and time: Thursday, October 20, 2016 at 1:00 p.m. - 2:30 p.m.
Location: Room 13, East building, Convention Center
Speakers:
You are welcome to visit us at booth #1234 during the exhibition hours. Our experts will be there to discuss and present our solutions and will also host the following in-booth presentations:
Wednesday October 19
| 10:30 a.m. / 2:45 p.m. | Comparative transcriptome analyses of HCC and EEC highlight common molecular and biological processes |
| 10:45 a.m. / 3:00 p.m. | QIAseq Targeted NGS: Digital Sequencing for high performance mutation detection |
| 12:45 p.m. | QIAGEN Clinical Insight – Clinical interpretation and reporting of complex NGS data, made simple |
| 1:15 p.m. | Sample-to-Insight from Cell-free DNA |
Thursday October 20
| 10:30 a.m. / 2:45 p.m. | HGMD: Comprehensive coverage of published inherited disease mutations |
| 10:45 a.m. / 3:00 p.m. | Prioritizing causal variants for rare, inherited syndromes, using patient phenotypes |
| 12:45 p.m. | QIAGEN Clinical Insight – Clinical interpretation and reporting of complex NGS data, made simple |
| 1:15 p.m. | Sample-to-Insight from Cell-free DNA |
Phenotypic-Driven Prioritization of Trio-Based Whole Genome Sequencing Data for Congenital Disorders
Presented by Alina Khromykh on Thursday, October 20 at 2:00 p.m. - 3:00 p.m.
Poster# 1721T, Bioinformatics and Computational, Exhibit Hall B, West Building
Sensitive and Reliable Variant Detection From Challenging Samples
Presented by Nan Fang on Thursday, October 20 at 2:00 p.m. - 3:00 p.m.
Poster# 2873T, Cancer Genetics, Exhibit Hall B, West Building
Implementing molecular barcode counting into a comprehensive integrated targeted sequencing portfolio and bioinformatics pipeline
Presented by Eric Lader on Thursday, October 20 at 3:00 p.m. - 4:00 p.m.
Poster# 728T, Molecular and Cytogenetic Diagnostics, Exhibit Hall B, West Building
Leveraging an Advanced Knowledge Base of Biological Pathways and Network Analytics to Identify Disease-Causing Mutations from Clinical Genome and Exome Sequence Data with Increased Efficiency and Accuracy
Presented by Sohela Shah on Friday, October 21 at 2:00 p.m. - 3:00 p.m.
Poster# 1761F, Bioinformatics and Computational, Exhibit Hall B, West Building
miRNA as liquid biopsy biomarkers in cancer
Presented by Brian Dugan on Friday, October 21 at 2:00 p.m. - 3:00 p.m.
Poster# 2892F, Cancer Genetics, Exhibit Hall B, West Building
For more details about ASHG 2016, please visit the official event page.
You can find more information about all QIAGEN solutions at qiagen.com.
We recently returned from beautiful Barcelona, where we attended the 49th annual meeting for the European Society of Human Genetics focusing on the latest advances being made in hereditary and rare diseases. It was a wonderful chance to meet our customers and our booth was bustling all day with meetings and demonstrations of our advanced testing and QCI solutions.
To start things off at the conference, we issued a press release announcing our implementation of the Broad Institute’s GATK best practices pipeline for Biomedical Genomics Workbench with its Biomedical Genomics Server Solutions. The press release also shared information about our highly accurate clinical performance at the recent CAGI 4 challenge for our Hereditary Disease Solution for exomes, genomes, and large gene panels.
At ESHG, we also hosted a satellite meeting and three poster sessions. We met an overwhelming interest in our presentations and the topic about "Using NGS solutions to compare exomes in rare and inherited diseases and identifying the cause of the disease" filled the room - all seats and standing spots were taken. As a respond to the huge interest, we had the presentation recorded. You can watch both the video and the posters below.
We were impressed by the caliber of research and innovation being undertaken by our colleagues and customers at ESHG. In 2017, the organization will hold its 50th anniversary event in Copenhagen - we hope to see you there!
Watch the presentation from our satellite meeting
A great presentation on the use of next-generation sequencing in clinical applications was given by:
View the posters
Identification of potential immune targets in controlling Endometrioid Endometrial Carcinoma metastatic progression
Presented by Elodie Dubus
Leveraging network analytics to infer patient syndrome and identify causal mutations using patient DNA sequence and phenotype data
Presented by Sohela Shah
A efficient and accurate end-to-end next-generation sequencing solution for identifying and interpreting disease causing variants in rare diseases
Presented by Anika Joecker
Liquid biopsy solutions
Our liquid biopsy solutions empower you to sensitively, specifically and rapidly analyze circulating nucleic acids, giving you the first step towards uncovering valuable biomarkers in your samples. Check out our solutions on qiagen.com or visit the Biomarker Insights blog for scientific stories!
The European Human Genetics Conference 2016 is taking place in Barcelona, Spain, on May 21-24. We'll be there and we have prepared a number of scientific activities to take place. ESHG has become one of the premier events in the field of human genetics and will set the scene for discussions about the latest developments within human and medical genetics.
You can find us at booth #550 and #552 and we encourage you to stop by for a chat, a demo, or to share your HGMD experiences on our poster-board. We'll also be presenting posters and hosting a Satellite Meeting as well.
Title: Using next-generation sequencing bioinformatics solutions to compare exomes in rare and inherited diseases and identify the cause of the disease
Speakers: Dr. Anika Joecker, PhD, Global Solution Manager, QIAGEN Bioinformatics - Céline S. Reinbold, MSc, PhD Student, Department of Biomedicine, University Hospital Basel, Switzerland - Dr. Andreas Rump, PhD, Head of Molecular genetics group, Institute of Clinical Genetics, Technical University of Dresden, Germany
Date and time: Saturday, May 21 at 12:15 p.m. - 1:45 p.m. (lunch will be available)
Join us, together with Mrs. Reinbold and Dr. Rump, for noteworthy presentations on the use of next-generation sequencing in clinical applications. We'll start the workshop with a brief introduction to our clinical genomics portfolio of solutions, presented by Dr. Joecker. Then Mrs. Reinbold will present her compelling data on a comprehensive comparison of three different exome sequencing pipelines. Dr. Rump will conclude the workshop with an exciting presentation on Exome and Mendeliome sequencing in rare genetic diseases where he will present the work from his recent publication in the Journal of Medical Genetics.
Identification of potential immune targets in controlling Endometrioid Endometrial Carcinoma metastatic progression
Presenter: Elodie Dubus
Presentation time: Sunday, May 22 at 10:15 a.m. - 11.15 a.m.
Location: Poster section 16 - Omics/Bioinformatics, poster board #P16.25A
Leveraging network analytics to infer patient syndrome and identify causal mutations using patient DNA sequence and phenotype data
Presenter: Sohela Shah
Presentation time: Sunday, May 22 at 4:45 p.m. - 5:45 p.m.
Location: Poster section P14 - New diagnostic approach, technical aspects & quality control, poster board #P14.086B
A efficient and accurate end-to-end next-generation sequencing solution for identifying and interpreting disease causing variants in rare diseases
Presenter: Anika Joecker
Presentation time: Sunday, May 22 at 4:45 p.m. - 5:45 p.m.
Location: Poster section P15 - Personalized/Predictive Medicine and Pharmacogenomics, poster board #P15.06B
QIAGEN and PreAnalytiX will host a joint Corporate Satellite where you can join us and hear how our customers are using our new technologies to advance molecular genetics research!
Title: Sample to Insight - The journey where biological samples are transformed into valuable insights
Speakers: Dr. Elena García-Arumí, Department of Clinical and Molecular Genetics and Rare Disease Unit, Hospital Vall d ́Hebron, Barcelona, Spain - Dr. Daniel Groelz, QIAGEN, Hilden, Germany
Date and time: Sunday May 22, 2016 at 11.15 a.m. – 12.45 p.m. in room 131
Dr. Elena García-Arumí, Hospital Vall d ́Hebron, will talk about molecular genetics approaches to mitochondrial OXPHOS system diseases using QIAGEN NGS strategies and Dr. Daniel Groelz, QIAGEN will present a new technology and workflow for integrated collection, stabilization, and purification of circulating cell-free DNA - the PAXgene® Blood ccfDNA System.
We're looking forward to seeing you in Barcelona!
Follow us on Twitter at @QIAGENbiox and @QIAGENscience for updates during the event
Get more details about ESHG
