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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.