NIBSC establishes first WHO international genomic reference panel for KRAS cancer mutations

Last October the World Health Organization (WHO) approved the first international standards for KRAS mutations, to underpin the harmonization of cancer genomic diagnostics.

Produced by scientists at NIBSC, the panel comprises genomic DNA materials covering seven common colorectal cancer (CRC)-associated KRAS mutations. As the only primary standards available for worldwide in vitro diagnostic use in the quantification of KRAS mutations at specific ‘hotspots’ in the gene, this product aims to transform the calibration of kits, assays and secondary standards used in cancer genomic diagnostics.

About the KRAS panel

The available WHO 1st International Reference Panel for genomic KRAS codons 12 and 13 mutations (NIBSC product code 16/250) comprises eight freeze-dried human genomic DNA materials produced from cell lines covering the seven most-common CRC-associated KRAS mutations, as found in codons 12 and 13, plus a wild-type KRAS standard (and diluent).

The panel was validated in a collaborative study involving 56 international laboratories using routine diagnostic methods such as next-generation sequencing (NGS) and PCR.

These reference standards will support cancer genomic diagnostics as they can be used to calibrate diagnostic assays, kits, and secondary standards for the seven most-common KRAS mutations.

Improving cancer diagnosis and treatment

We are the only organisation currently producing primary standards to support cancer genomic diagnostics. This WHO 1^st International Reference Panel adds to our growing portfolio of cancer genomic standards aimed at improving the quality and consistency of cancer diagnostics. 

Dr Jennifer Boyle from the division of Advanced Therapies said:

"The new International Reference Panel aims to expand our existing range of cancer genomic diagnostic standards to include several other clinically-relevant small variants present in solid tumours, and/or leukaemias, and potentially some structural variants."  

"With NGS being increasingly applied to the personalised treatment and management of cancer, the potential variability in NGS-based diagnostics needs to be addressed. The proposed reference panel aims to facilitate the development of NGS technologies in cancer diagnostics and serve as a benchmark across different platforms and bioinformatics processes."

"We’re currently consulting with key experts and organisations in cancer genomic diagnostics on the development and composition of this panel of standards."

KRAS and cancer

KRAS mutations can be found in around 30% cancers including lung, pancreas and colon. For colorectal cancer, over 90% of KRAS mutations occur in codons 12 and 13.

With cancer therapy moving away from a ‘one size fits all approach’ to an era of personalised medicine, understanding the specific cancer-causing genomic mutations a patient might have is becoming increasingly important. 

Genetic testing is now often required before decisions on cancer treatment can be made and accurate diagnostic methods are critical to ensure a patient receives the right therapy at the right time.

Cancer patients with KRAS-activating mutations can fail to respond to certain types of treatment such as anti-EGFR antibody therapies. Therefore, accurate diagnosis is particularly crucial for patients with these KRAS mutations to ensure they’re provided with the most effective treatment.

For more information about our Cancer Genomic Reference Panels or to register your interest in participating in future collaborative studies, please contact jennifer.boyle@nibsc.org.