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Sequencing of pancreatic cancer primary tumors and metastases

The extent of heterogeneity of driver gene mutations present in naturally occurring metastases is largely unknown, i.e. treatment-naïve metastatic disease. To address this issue, 60x whole genome sequencing of 26 metastases from 4 patients was carried out. We found that the identical driver gene mutations were present in every metastatic lesion of each patient studied. Passenger gene mutations not known or predicted to have functional consequences accounted for all intratumoral heterogeneity. Even with respect to these passenger gene mutations, the genetic similarity among the founding cells of metastases was markedly higher than that expected for any two cells randomly taken from a normal tissue. The uniformity of driver gene mutations among metastases in the same patient has critical, encouraging implications for the success of future targeted therapies in advanced stage disease.

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
EGAD00001003153 Illumina HiSeq 2000 Illumina HiSeq 2500 49
Publications Citations
Limited heterogeneity of known driver gene mutations among the metastases of individual patients with pancreatic cancer.
Nat Genet 49: 2017 358-366
Minimal functional driver gene heterogeneity among untreated metastases.
Science 361: 2018 1033-1037
Accurate quantification of copy-number aberrations and whole-genome duplications in multi-sample tumor sequencing data.
Nat Commun 11: 2020 4301