16 Year Life History and Genomic Evolution of an ER+ HER2- Breast Cancer

Study ID Alternative Stable ID Type
EGAS00001004624 Other

Study Description

We reconstructed the genomic evolution through the sixteen year history of an ER+ HER2- breast cancer patient to investigate molecular mechanisms of disease relapse and treatment resistance after long term exposure to hormonal therapy. Genomic and transcriptomic profiling was performed on primary breast tumor (2002), initial recurrence (2012) and liver metastasis (2015) tumor samples. Cell free DNA analysis was performed at eleven timepoints (2015-2017).This phylogenetic reconstruction of the life history of a single patient's cancer as well as monitoring tumor progression through liquid biopsies with the detection of a resistant clone harboring a de-novo ESR1 E380Q mutation allowed for uncovering the molecular mechanisms leading to initial relapse, metastatic spread and treatment resistance.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Case report of an ER+ Her2- breast cancer patient. Whole exome and transcriptome sequencing at time of diagnosis and relapse, targeted DNA sequencing of a liver met
Illumina HiSeq 2500 6

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