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The PTEN study
Research Genetic test
Help
offered by
Cancer Genomic Medicine Translational Research Lab
View lab's test page
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GTR Test Accession: Help GTR000260116.2
INHERITED DISEASECONNECTIVE TISSUEDYSMORPHOLOGY ... View more
Last updated in GTR: 2019-03-18
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Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Conditions (2): Help
PTEN hamartoma tumor syndrome; Cowden syndrome 1
Genes (1): Help
PTEN (10q23.31)
Study description: Help
Please see study website: http://www.lerner.ccf.org/gmi/clinical/pten/ for eligiblity criteria and required …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Patients may not self-enroll in this study. Enrollment must be …
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Light Scanner
Study Description
Name: Help
The PTEN study
Protocol number: Help
8458
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Please see study website: http://www.lerner.ccf.org/gmi/clinical/pten/ for eligiblity criteria and required paperwork. Analysis includes sequencing of the PTEN promoter and DGGE analysis of the coding region, exon/intron boundaries, and flanking intronic sequences. MLPA will be done for patients meeting International Cowden Consortium diagnostic criteria (see Zbuk & Eng 2007 below) or … View more
View citations (5)
  • Zbuk KM, Eng C. Cancer phenomics: RET and PTEN as illustrative models. Nat Rev Cancer. 2007;7(1):35-45. doi:10.1038/nrc2037. Epub 2006 Dec 14. PMID: 17167516.
  • Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Ni Y, et al. Am J Hum Genet. 2008;83(2):261-8. doi:10.1016/j.ajhg.2008.07.011. PMID: 18678321.
  • Heald B, Mester J, Rybicki L, Orloff MS, Burke CA, Eng C. Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology. 2010;139(6):1927-33. doi:10.1053/j.gastro.2010.06.061. Epub 2010 Jun 27. PMID: 20600018.
  • Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. Bennett KL, et al. JAMA. 2010;304(24):2724-31. doi:10.1001/jama.2010.1877. PMID: 21177507.
  • Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet. 2011;88(1):42-56. doi:10.1016/j.ajhg.2010.11.013. Epub 2010 Dec 30. PMID: 21194675.
Study type: Help
Observational study
Offered by: Help
Cancer Genomic Medicine Translational Research Lab
Person responsible for the study: Help
Charis Eng, PhD, MD, FACP, Lab Director
Study contact: Help
Charis Eng, PhD, MD, FACP, Lab Director
Research contact policy: Help
Laboratory can only accept contact from health care providers. Patients/families interested in participating in a research study should discuss this option with their health care provider.
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Patients may not self-enroll in this study. Enrollment must be facilitated by a health care provider (genetic counselor, doctor, nurse, etc.) able to take responsibility for receiving the patient's results: Please be aware that an OFC (head circumference) measurement is a required data point for all study participants. You may … View more
Consent form: Help
Not provided
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Light Scanner
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information

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