Millions could benefit after research into a new treatment for women with incurable breast cancer yielded "astonishing results".
This newfound hope for women affected with advance breast cancer follows the conclusion of a phase 2 randomised placebo controlled trial (otherwise referred to as FAKTION) which evaluated the use of combinational drug therapy designed to target genetic mutations within tumour specimens using a study of 200 eligible patients from across 19 UK hospitals.
Since 2015, the role of AWMGS has been to extract DNA from FFPE tumour specimens received from these recruited patients and analyse these DNA samples for PIK3CA mutation status, analysing 2 common hotspot regions in the PIK3CA gene. Circulating tumour DNA samples extracted from patient blood samples were also evaluated.
AWMGS changed the mutation detection technology during the trial from pyrosequencing to the use of a more sensitive droplet digital PCR (ddPCR) method. Alongside, mutation analysis, PTEN expression level was investigated using immunohistochemistry (IHC).
The study's co-lead, Prof Rob Jones, of Velindre Cancer Centre and Cardiff University presented the results of the trial at the American Society of Clinical Oncology (ASCO) June 3-7. In addition, the FAKTION manuscript has also been accepted for publication in The Lancet Oncology. The trial results found they could expect to survive almost twice as long compared with those given standard treatment.
Speaking to BBC Health Correspondent Owain Clarke ahead of the presentation Dr Helen Roberts, Head of the Solid Tumour Service at the All Wales Medical Genomics Service (AWMGS), said:
"One drug is not necessarily the best treatment for all patients with a particular cancer type, so we're looking at how genetic code can be a driver. It can be cash saving, we want to use drugs where they are going to work and we don't want to give somebody something that has no effect - so it's a double win really. We have the technology and experience now to decide how to treatment people as individuals, and think what's going to work best for you."
Head of Laboratories at the All Wales Medical Genomics Service, Sian Morgan said:
My thanks to everyone who has been involved in facilitating AWMGS' involvement in the trial over the many years, it has been quite the incredible journey of discovery, and it allows AWMGS to be recognised internationally".
