# Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer

Source: https://onco.cc/key-papers/paper-garcia-murillas-ctdna-mutation-tracking-stm-2015/  
OnCo record `paper-garcia-murillas-ctdna-mutation-tracking-stm-2015` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

Tracking a tumour's own mutations in blood after surgery for early breast cancer predicted relapse with a 25-fold hazard and a median lead of nearly eight months, and the DNA in the blood foretold the genetics of the eventual metastases better than the primary did.

## Summary

In a prospective cohort of 55 early breast cancer patients receiving neoadjuvant chemotherapy, detection of ctDNA after apparently curative treatment, at a single post-surgical time point or with serial samples, predicted metastatic relapse (HR 25.1 and 12.0). Serial mutation tracking increased sensitivity with a median lead time of 7.9 months over clinical relapse. Targeted capture sequencing of ctDNA defined the genetic events of minimal residual disease and predicted the metastatic genotype more accurately than sequencing of the primary.

## Fields

- Kind: Key paper
- Last checked: 2026-09-24
- Journal: Science Translational Medicine
- Year: 2015
- DOI: 10.1126/scitranslmed.aab0021
- Authors: Garcia-Murillas I, Schiavon G, Weigelt B, et al.
- Findings: Post-treatment ctDNA detection: relapse HR 25.1 (single time point) and 12.0 (serial).; Median lead time 7.9 months; MRD sequencing predicted the metastatic genotype.
- What it means: The proof-of-principle paper for molecular residual disease in breast cancer, and the origin of the personalised digital PCR approach that c-TRAK TN later tested prospectively in TNBC.
- Caveats: 55 patients of all subtypes.; Digital PCR of one or two mutations per patient.

## Sources

- Garcia-Murillas et al., Sci Transl Med 2015: mutation tracking in ctDNA predicts relapse in 55 early breast cancer patients: https://doi.org/10.1126/scitranslmed.aab0021
- PubMed: https://pubmed.ncbi.nlm.nih.gov/26311728/

## Connected records

- biomarkers: [ctDNA MRD positivity (molecular residual disease after curative treatment)](https://onco.cc/biomarkers/ctdna-mrd-positive/)
- cancers: [Breast cancer (all types)](https://onco.cc/cancers/breast-cancer/), [Triple-negative breast cancer (TNBC)](https://onco.cc/cancers/tnbc/)
- technologies: [Liquid biopsy (ctDNA)](https://onco.cc/technologies/liquid-biopsy/), [MRD / molecular residual disease testing](https://onco.cc/technologies/mrd-testing/)
- institutions: [The Institute of Cancer Research](https://onco.cc/institutions/icr-london/), [The Royal Marsden](https://onco.cc/institutions/royal-marsden/)
- terms: [Circulating tumour DNA (ctDNA)](https://onco.cc/terms/ctdna/), [Minimal / molecular residual disease (MRD)](https://onco.cc/terms/mrd/)
- people: [Nicholas Turner](https://onco.cc/people/nicholas-turner/)
- journals: [Science Translational Medicine](https://onco.cc/journals/science-translational-medicine/)

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