NIPT Platform Can Detect Copy Number Alterations in Some Gynecological Cancers

NEW YORK (GenomeWeb) – Platforms typically used for noninvasive prenatal testing could also be helpful to detect copy number alterations associated with gynecological cancers, according to a new study.

While noninvasive prenatal testing platforms have been developed to detect copy number alterations within fetal cell-free DNA from maternal plasma samples, researchers from the Showa University School of Medicine in Japan theorized that NIPT platforms could also capture CNAs in circulating cell-free DNA sloughed off by tumors and could represent a noninvasive, cost-effective way to detect cancer.

As they reported this week in Scientific Reports, the researchers were able to use such an approach to detect copy number alterations in about 20 percent of gynecological cancers they tested. The pipeline, they added, was better at detecting later-stage tumors, and samples in which the researchers could detect CNAs had poorer prognoses, suggesting that cancer CNAs detected in plasma could represent a prognostic biomarker.

“We focused on the application of CNA in plasma and believed that this method has a broader scope for genetic diagnoses, such as the analysis of [circulating tumor] DNA to detect cancer and predict prognosis, although its clinical utility must be further studied,” Showa’s Akihiko Sekizawa and his colleagues

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