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Advances in Clinical Genomics Profiling

Using RNA and DNA sequencing to predict tumor site and detect gene alterations may allow patients with CUP to receive appropriate targeted treatment.

The findings demonstrate the value of multi-cohort platform trials as an option for refractory cancer patients with particularly rare genomic tumor alterations.

An Invitae-led retrospective study found almost a third of cancer patients who underwent germline genetic testing after tumor sequencing had pathogenic variants.

The researchers used tumor and germline whole-genome sequencing, RNA sequencing, and methylome analysis to elucidate the molecular basis of high-risk cancers.

Based on the study results, the score could be combined with other risk factors to improve predictions of contralateral breast cancer and stratify patients.