Developing reference methods to characterise gene mutations in breast cancer. NML collaborate with NIM China under the GenomeMET project.

The PIK3CA gene is frequently mutated in breast cancer, contributing to uncontrolled cell growth and tumour formation. Due to its abnormal activity, it is a target for treatments, such as newly approved Piqray (alpelisib) which inhibits the signalling pathway which is overactive in PIK3CA-mutated breast cancer. In order to be eligible for this targeted treatment, patients need to undergo genetic tests which identify the presence of a PIK3CA mutation. To support the quality and comparability of cancer diagnostic tests, many of which use genomic technology which analyses 10s-100s of genes in parallel, the European Partnership in Metrology project, GenomeMET, is developing reference methods to quantify mutations in cancer-related genes. In collaboration, the National Institute of Metrology (NIM) China and the National Measurement Laboratory (NML) at LGC are validating reference methods for three of the most common PIK3CA mutation variants. This activity has been supported by a six-month secondment of NIM researcher, Dr. Chunyan Niu, at NML, during which the reference methods have been validated in terms of trueness and specificity, and tested for the suitability in analysing DNA from typical clinical specimen types such as formalin-treated and fragmented cell-free materials. NIM and NML plan to publish the results of the validation study and submit it to the database of the Joint Committee for Traceability in Laboratory Medicine (JCTLM) to make the methods available for value assignment of reference and QC materials and genomic method validation.