Home » Breast cancer, NGS sequencing increased more than 6-fold over 5 years

Breast cancer, NGS sequencing increased more than 6-fold over 5 years

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Tracing the molecular identikit of breast cancer through advanced tests, based on Next Generation Sequencing (NGS) technology, seems to be an increasingly widespread practice in the United States. This is supported by the analysis published in JCO Precision Oncology by a team of experts in Boston and Nashville, who evaluated how much the tests are prescribed in clinical practice, for what type of breast cancer and even which mutations have been detected. In 5 years, between 2014 and 2019, the use of NGS has increased by more than six times.

I test NGS

An instrument of precision and personalized medicine, NGS tests are technological platforms that allow numerous tumor genes to be sequenced at the same time from tumor tissue samples or from patients’ blood (liquid biopsy). Thanks to these tests it is possible to check whether a patient’s tumor has specific genetic alterations for which targeted drugs are already approved, or clinical trials are underway.

The analysis

The US experts carried out a retrospective analysis involving 2,316 breast cancer patients, for a total of 2,635 NGS tests conducted between 2014 and 2019 within the standard of care pathway.

What has emerged is that more and more doctors are using NGS tests during the therapeutic process of patients with breast cancer: the amount of tests prescribed annually, in fact, has progressively increased over time, by more than 6 times from 2014 to 2019. Furthermore, up to 2019 blood and tissue tests were ordered in about the same way, although blood tests were prescribed more frequently in cases of hormone receptor positive cancer. Most people who received the prescription were diagnosed with triple negative breast cancer.

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Tumors, genomic tests find mutations in 8 out of 10 patients

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NGS tests confirm in real contexts the ability to detect both alterations such as those known in the genes ESR1, PIK3CA, BRCA1, BRCA2 and others, and gene amplifications (i.e. multiple copies of the same chromosome region due to errors during DNA replication ). The former are most frequently detected by NGS on plasma, the latter by NGS on tumor tissue samples.

It was interesting to note a certain statistical difference in the genetic alterations detected by tests in the real world compared to the panorama obtained from previous studies. Real-life analysis, for example, revealed fewer gene amplifications such as that of the ERBB2 gene than expected, while mutations such as that of ESR1 and PI3K were more frequent. In particular, the pathogenic mutations in the PI3K pathway detected amounted to 38.6% and those in the DNA repair mechanism to 11%. According to the authors, this discrepancy may be due to clinicians’ preference for the use of liquid biopsy over tissue tests.

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