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

Study ID Alternative Stable ID Type
EGAS00001005784 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 5 datasets.

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Dataset ID Description Technology Samples
38 samples with DCIS and matched recurrences sequenced with a targeted mutation panel on IonTorrent.
Ion Torrent PGM 76
105 Normal, DCIS and recurrences samples target-sequenced
Illumina HiSeq 2500 105
KCL SNP array samples for copy number analysis
unspecified 96
KCL lpWGS samples for copy number analysis
Illumina HiSeq 2500 33
128 samples with DCIS and matched recurrences sequenced with lpWGS
Illumina HiSeq 2500,Ion Torrent PGM 52

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