Supplementary Figure S6 from Genomic and Epigenomic ctDNA Profiling in Liquid Biopsies from Heavily Pretreated Patients with DNA Damage Response–Deficient Tumors

This is a Quantitative Study study.

Key Points

TP53BP1 and RIF1 mutations were identified in a patient with BRCA1-altered pancreatic cancer, impacting genomic understanding.
Liquid biopsy profiling revealed key mutations in a heavily pretreated patient with DNA damage response–deficient tumors.
The analysis utilized ctDNA to demonstrate genetic alterations in tumors, highlighting potential therapeutic targets.
Findings underscore the significance of ctDNA in understanding mutations in challenging cancer cases and inform treatment pathways.

Analysis identifies mutations in TP53BP1 and RIF1 in pancreatic cancer patients, suggesting implications for treatment.

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Silverman et al. (2025) studied this question.

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