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Product summary

  • Technology NGS
  • Application Solid tumour
  • Areas of interest Breast cancer
  • Panel Size 52.6 Kb
  • Gene Targets 7
  • Aberration Types SNV, indel, CNV
  • DNA input recommended >250ng high quality DNA
  • Product Code 770005-24
  • Regulatory Status For research use only; not for diagnostic procedures.



The SureSeq™ Germline Breast Cancer + CNV Panel has been developed to provide comprehensive coverage of 7 key genes implicated in breast and ovarian cancer, including BRCA1 and BRCA2 (Table 1). Detecting SNVs and indels, as well as exon-level to whole gene CNVs, the SureSeq Germline Breast Cancer + CNV Panel provides researchers with a single NGS workflow to study clinically relevant aberrations and alleviates the burden of running multiple assays.

  • Unparalleled uniformity and high depth of coverage — reliably detect germline variants in all exonic regions
  • CNV detection ranging from loss of single exons to full gene deletions and duplications — profile your samples for CNVs in all 7 genes
  • Time savings — streamline your laboratory workflow with a single NGS assay for a comprehensive profile of all variants of interest
  • Complimentary Interpret NGS data analysis software — easy-to-use analysis solution for accurate detection of all variants in your panel

Gene targets

Select a gene to view exon coverage examples:

* Exon examples not yet available


Evidence-based content and unparalleled coverage uniformity

Loss-of-function mutations in BRCA1 and BRCA2 have been implicated in an increased risk for breast and ovarian cancer1,2. Screening for germline mutations in these genes allows research into familial risk of developing breast and ovarian cancer. Facilitated by OGT’s expert bait design, the hybridisation-based SureSeq Germline Breast Cancer + CNV Panel delivers excellent coverage uniformity, allowing consistent detection of SNVs and indels (Figure 1).

Reliable CNV detection

To gain a comprehensive picture of breast and ovarian cancer, researchers often have to employ different methods for investigating SNVs, indels, and CNVs. The SureSeq Germline Breast Cancer + CNV Panel offers reliable CNV detection in all genes covered by the panel, ranging from single-exon events up to deletions and duplications of complete genes. The panel has been fully validated on germline samples, with CNV detection 100% concordant with MLPA data, providing researchers with a single NGS assay for profiling of CNVs in BRCA1BRCA2 and 5 other key genes implicated in breast and ovarian cancer (Figures 2 - 3).

Complimentary Interpret NGS analysis software

Interpret is OGT’s powerful and easy-to-use NGS analysis solution, facilitating analysis and visualisation of a wide range of somatic variants and structural aberrations. Designed to work seamlessly with all SureSeq panels, Interpret perfectly complements the SureSeq Germline Breast Cancer + CNV Panel, delivering fast and accurate detection of all SNVs, indels and CNVs covered by the panel. Following detection, all variants can be easily visualised in the user-friendly variant browser, for an effortless translation of all your sequencing data into meaningful results.

Bespoke panel content

You never have to sequence genes you’re not interested in and can always modify each panel to what’s relevant to your research. If the SureSeq Germline Breast Cancer + CNV Panel doesn’t meet your exact requirements (see table 2 for a detailed breakdown of the numbers), you can choose from our regularly updated, expert-curated library of pre-optimised cancer content to create your ideal custom SureSeq myPanel™ Breast and/or Ovarian Cancer Panel.

SureSeq Germline Breast Cancer + CNV Panel workflow

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  • SureSeq Germline Breast Cancer + CNV Panel


  1. Antoniou et al., Am J Hum Genet. 2003 Sep;73(3):709.
  2. King et al., Science. 2003;302:643–646

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