Research & Development

BRCA1 and BRCA2 gene mutations are linked to the increased risk of developing breast and ovarian cancers, so early identification can lead to life-saving early intervention. Identification can also get highly effective treatments, such as PARPi (Poly(ADP-ribose) polymerase inhibition), to certain cancer patients with BRCA1 and BRCA2 genetic mutations.

Current BRCA1 and BRCA2 testing can have a turnaround time of a few weeks to months, depending on the need to batch multiple samples. Because of this, clinical decisions such as treatment course or surgery sometimes have to be made without the results to help influence the decision.

To combat this, 4bases’ kit targets the BRCA1 and BRCA2 genes through PCR-generating short amplicons compatible with Oxford Nanopore’s built-in short fragment mode (SFM) sequencing. Following nanopore library prep and sequencing, the software identifies variants in the genes.

Gordon Sanghera, CEO, Oxford Nanopore Technologies, commented: “We are delighted to be working with 4bases on this important work to deliver distributed and accessible sequencing to scientists in Italy and Switzerland. In the first instance, we are excited to see how the combination of 4bases and nanopore sequencing will enable rapid characterisation of the BRCA1 and BRCA2 genes and significantly decrease the time to answer. As our collaboration develops we will see this expanded across the breadth of the 4bases portfolio and this will have a large impact on many research areas.”

Fabio Grandi, CEO, 4bases, said, “With now over ten years of activity in the field of next generation sequencing, we at 4bases have witnessed every step of what we can call a revolution, leading to an always faster and more comprehensive acquisition of genomic data to the increasing benefit of clinicians involved with precision medicine. Our solutions are now used on a worldwide basis with the main sequencing systems and are now specifically adapted to the new Oxford Nanopore sequencing technology. After the development of 4eVAR, our new bioinformatics tool, completed last year, this strategic collaboration represents a new and exciting milestone in the 4bases development.”