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biorxiv.org· van Putten, J., Rosendahl Huber, A., Koster, R., Roerink, S., de Ligt, J., Roepman, P., Kas, S., van Boxtel, R., van der Graaf, W., Cuppen, E., Nienhuis, H., The GENAYA consortium ·· 18 hours agoScore51

The pan-cancer whole-genome landscape of Adolescent and Young Adult solid cancers

The pan-cancer whole-genome landscape of Adolescent and Young Adult solid cancers

In brief

Whole-genome sequencing of paired tumor-normal samples from 698 adolescents and young adults (AYAs, 18-39 years) and 5,220 older adults shows AYA tumors carry fewer somatic variants but largely the same genetic drivers. Pathogenic germline variants concordant with tumor type were enriched in AYAs (10.9% versus 6.6% in matched older adults, p=0.006), often with a somatic second hit, supporting comprehensive tumor-normal profiling beyond driver-focused testing.

Source: biorxiv.org · biorxiv.org

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