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Product summary

  • Technology NGS
  • Application Solid tumour
  • Areas of interest Melanoma
  • Gene Targets 1 - 4+
  • Aberration Types SNV, indel
  • Product Code Various
  • Regulatory Status For Research Use Only; Not for Diagnostic Procedures.

Overview

Introduction

Cutaneous melanoma (CM) is the most dangerous form of skin tumour and causes 90% of skin cancer mortality1. With recurrent somatic mutations in BRAF, NRAS, KIT and NF1 among the most common genetic aberrations underlying pathogenesis of melanoma, next generation sequencing (NGS) has been an invaluable tool in helping to characterise the overall genomic landscape of melanomas.

Choose your ideal melanoma NGS panel from our range of fully tested and optimised NGS panel content. Simply mix and match the genes or individual exons you require and get the most out of your sequencing runs. Use in conjunction with the SureSeq™ FFPE DNA Repair Mix* for improved NGS library yields, %OTR and mean target coverage from challenging FFPE derived samples.

Getting started with your SureSeq myPanel NGS Custom Panel could not be simpler, find out more in this video…

Features
  • Hybridisation-based enrichment delivering unparalleled coverage uniformity - Detect low frequency melanoma variants consistently with confidence
  • Bespoke panels with pre-optimised content - Create your ideal panel and sequence only what’s relevant for your research
  • Panel content designed with experts and from current literature - Get the most comprehensive insight into disease-driving mutations
  • Complimentary Interpret NGS data analysis software - Easy-to-use analysis solution for accurate detection of all variants

Gene targets

Select a gene to view exon coverage examples:

* Exon examples not yet available

Want to customise these gene targets?

We have a regularly updated, expert-curated library of pre-optimised cancer panel content for you to select from. Simply mix and match the gene, exonic or intronic content you need to create a melanoma cancer NGS cancer panel that meets your exact requirements.

Capabilities

Superior coverage uniformity

The most frequently activated pathway in melanoma is the mitogen-activated protein kinase (MAPK) pathway, often activated through mutations in the V600 codon of BRAF (in 35–50% of melanomas) and the Q61 codon of NRAS (10–25%)2, with mutations being mutually exclusive.

Mutations of KIT are found in particular subsets of melanoma, where the mutations activate signal-transduction pathways (MAPK and PI3K) that ultimately lead to cell proliferation. Approximately 70% of KIT mutations identified in melanoma are found in exon 11, most commonly L576P (Figure 1).

Neurofibromatosis type 1 (NF1) is a relatively common tumour predisposition syndrome related to germline aberrations of NF1, a tumour suppressor gene. Recent studies have additionally shown NF1 to play a critical role in somatic events in a wide range of tumours, including melanoma. The tumour suppressor function of neurofibromin is largely attributed to a small central region which comprises 360 amino acids encoded by exons 20-27a3. OGT’s expert bait design offers excellent uniformity for all of these key genes associated with melanoma (Figure 2).

SureSeq myPanel NGS Custom Melanoma Cancer Panel workflow

Content selection Image

Content selection

Step 1 of the SureSeq NGS workflow.
  • SureSeq myPanel NGS Custom Melanoma Cancer Panel

References

  1. Garbe et al, European Journal of Cancer 63 (2016) 201-217
  2. Tsao et al, Genes & Dev. 2012. 26: 1131-1155
  3. Yap et al, Oncotarget, 2014, Vol. 5, No. 15

*The SureSeq FFPE DNA Repair Mix can only be purchased in conjunction with SureSeq NGS panels, not as a standalone product. †Due to the presence of pseudogenes in NF1, it is recommended that an orthogonal technique is used to verify any mutations detected.

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