Ontology highlight
ABSTRACT:
SUBMITTER: Sandell S
PROVIDER: S-EPMC3566822 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Sandell S S Schuit R J L RJ Bunyan D J DJ
British journal of cancer 20130108 2
<h4>Background</h4>A cohort of 629 patients with suspected Bannayan-Riley-Ruvalcaba syndrome or Cowden syndrome was tested for mutations in the PTEN gene.<h4>Methods</h4>Dosage analysis of PTEN was carried out using a PTEN-specific multiplex ligation-dependent probe amplification (MLPA) kit, whereas point mutation analysis was performed using direct sequencing.<h4>Results</h4>Approximately 4% of the patients from the testing cohort were heterozygously deleted for the two MLPA probe-binding sites ...[more]