The Genomic Landscape of Endocrine Resistant Advanced Breast Cancers: Paired Pre- and Post-endocrine Therapy Samples
UID: 11288
- Description
- From the dbGaP study description:
"The genomic evolution of breast cancers exposed to systemic therapy and its effects on clinical outcome have not been broadly characterized. We integrated the genomic sequencing of 1918 breast cancers, including 1501 hormone receptor-positive tumors, with detailed clinical information and treatment outcomes. Functional mutations in ERBB2 and loss-of-function mutations in NF1 were more than twice as common in post-endocrine therapy tumors compared to treatment-naive tumors. Additional alterations in the MAPK pathway (EGFR, KRAS among others) and in estrogen receptor transcriptional regulators (MYC, CTCF, FOXA1 and TBX3) were also more common compared to hormonal therapy-naive tumors.
To determine whether candidate genomic lesions in the MAPK pathway and estrogen receptor transcriptional regulators were present prior to therapy or whether such lesions arose under the selective pressure of therapy, we performed whole-exome sequencing in select patients who had adequate samples acquired prior to and after progression on endocrine therapy. In total, 95 specimens corresponding to 30 treatment-naive primary tumors, 35 post-treatment tumors, and 30 normal samples were sequenced from 30 patients with endocrine-resistant metastatic breast cancer."
-
Access via dbGaP
Accession #: phs001674.v1.p1 - Access Restrictions
-
Application Required
- Access Instructions
- Full access to this dataset in dbGaP requires authorization through an Authorized Access Portal which can be requested for either 'data download' or 'view only'. Individual level data download requires a project request. With dbGaP DataBrowser approval, users may view the compilation of individual-level data of general research use. Upon approval, data can be downloaded. To view the data available with Authorized Access, click the link 'list of components' in the Authorized Access section. Upon approval, data can be downloaded.
Publicly available data such as data dictionaries, variable summaries, documents and truncated analysis are available the public download site FTP link. - Associated Publications
- Equipment Used
- Dataset Format(s)
- PDF, XML, gzip, TXT
- Dataset Size
- 226.53 KB
Do you have or know of a dataset that should be added to the catalog? Let us know!