Clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancers defined by genomic analysis

Study ID Alternative Stable ID Type
EGAS00001006306 Other

Study Description

Ductal Carcinoma In Situ (DCIS) is the most common form of pre-invasive breast cancer and despite treatment a small fraction (5-10%) of DCIS patients present with invasive disease many years later. A fundamental biologic question is whether the invasive disease recurring in the same breast is established by tumor cells in the initial DCIS or represents new unrelated disease. To address this question, we performed genomic analyses on the initial pure DCIS lesion and paired invasive recurrent tumors in 95 patients together with single cell DNA sequencing in a subset of cases. Our data shows that in 75% the invasive recurrence was clonally related to the initial DCIS, suggesting that the tumor cells were not eliminated during the initial treatment with surgery +/- radiotherapy. Surprisingly however, 18% were clonally unrelated to the DCIS, representing new independent lineages, and 7% of cases were ambiguous. Our findings show that although DCIS is often the precursor of invasive recurrence, a significant fraction of invasive recurrences are unrelated to the initial DCIS. ... (Show More)

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
WES dataset obtained using Illumina HiSeq 2500, Swift Bioscience library kit, paired reads.
Illumina HiSeq 2500 1

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