Study
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.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001008338 |
38 samples with DCIS and matched recurrences sequenced with a targeted mutation panel on IonTorrent.
|
Ion Torrent PGM | 76 |
EGAD00001008376 |
105 Normal, DCIS and recurrences samples target-sequenced
|
Illumina HiSeq 2500 | 105 |
EGAD00001008379 |
KCL SNP array samples for copy number analysis
|
unspecified | 96 |
EGAD00001008380 |
KCL lpWGS samples for copy number analysis
|
Illumina HiSeq 2500 | 33 |
EGAD00001008401 |
128 samples with DCIS and matched recurrences sequenced with lpWGS
|
Illumina HiSeq 2500,Ion Torrent PGM | 52 |
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