In an international effort to enhance cancer diagnostics, the UK National Measurement Laboratory (NML) at LGC, in collaboration with China’s National Institute of Metrology (NIM), is validating reference methods for testing three prevalent PIK3CA gene mutations. These mutations, common in breast cancer, play a crucial role in unregulated cell growth and tumor development, making them important therapeutic targets.

The PIK3CA gene, often mutated in breast cancer patients, has become a focal point for new treatment protocols, including the recently approved drug Piqray (alpelisib). As these treatments target specific genetic mutations, ensuring precise and reliable genetic testing is essential for patient care and effective treatment selection. This collaboration addresses that need by aiming to set a global standard in mutation testing accuracy.

The partnership includes a six-month secondment of Dr. Chunyan Niu, a researcher from NIM, to the UK’s NML. Dr. Niu’s work at NML will focus on validating methodologies for testing trueness and specificity, ensuring that diagnostic tests maintain high standards of accuracy across labs worldwide. This collaboration supports the development of robust reference methods, improving the reliability and comparability of cancer diagnostics worldwide.

This work is supported by the GenomeMET project under EURAMET – The European Association of National Metrology Institutes – which is dedicated to driving international advancements in cancer diagnostics. Through collaborative research and shared expertise, GenomeMET aims to set new benchmarks in genomic testing standards, paving the way for innovative approaches in personalized medicine.