Below we have collated the molecular and genetic datasets from PHTS patient derived samples of which we are currently aware.
The late professor Charis Eng, Dr Ying Ni and the team at Cleveland Clinic (US) have performed whole genome sequencing of almost 600 patients with PHTS and their family members. These data are partially available through the Database of Genotypes and Phenotypes (dbGaP) for qualified researchers, and further data can be requested from the Cleveland Clinic. This project received funding from PTEN Research.
For further information, please contact pten@ccf.org.
The late professor Charis Eng and her team at Cleveland Clinic (US) conducted exome sequencing of formalin-fixed, paraffin-embedded (FFPE) tissue from 58 thyroid tumours (28 cancers, 30 benign nodules) from 19 patients with PHTS. These data are available through the Database of Genotypes and Phenotypes (dbGaP).
The late professor Charis Eng and her team at Cleveland Clinic (US) conducted targeted RNA sequencing and differential expression analysis on 26 thyroid cancers, 27 adenomatous nodules and 15 background thyroid tissue from 20 patients with PHTS.
For further information, please contact the corresponding author.
The late professor Charis Eng and her team at Cleveland Clinic (US) conducted exome sequencing of paired formalin-fixed, paraffin-embedded (FFPE) primary breast tumour and blood samples from 44 women with PHTS.
For further information, please contact pten@ccf.org.
The late professor Chris Eng and her team at Cleveland Clinic (US) generated genome wide genotyping data using the Infinium Global Screening Array-24, version 1.0 (Illumina) from 376 individuals of European ancestry with a germline PTEN mutation.
Access to original genomics data should be requested from the corresponding author and will require execution of material transfer and data sharing agreements to be executed with the Cleveland Clinic Foundation.
