Molecular Mechanisms Involved in Cancer Predisposition

Study ID
STU 122010-219

Cancer Related

Healthy Volunteers

Study Sites

Linda Robinson

Principal Investigator
Barbara Haley


This study will ask the subject to complete a family medical history questionnaire, allow researchers to review any relevant medical records to document breast cancer diagnosis and allow the researchers to collect and store genetic material from blood sample and /or tissue sample from another medical procedure that is being (or has been) scheduled.

about 100 people will take part in this study at uT Southwestern or Parkland Health and Hospital System, This study also is taking place at a number of other medical facilities around the country. There will be a total of 1000 people participating in this research study throughout the united States.

Participant Eligibility

Patients with the following will automatically qualify for study participation:

* Lhermitte-Duclos disease

* Pigmented macules of the glans penis

* Clinical diagnosis of Proteus or Proteus-like syndrome

* Macrocephaly and autism/mental retardation/developmental delay

In addition, patients with the following will also automatically qualify for study participation:

* Any two major criteria

* One major and two minor criteria OR three minor criteria, all of which involve different organ categories as noted on the clinical features checklist (example: a patient with macrocephaly, goiter, and lipomas would automatically qualify; a patient with thyroid cancer, goiter, and lipomas would not)

We will also accept any patient with a known PTEN mutation or variant of uncertain significance regardless of whether or not they meet the above criteria.

* Spanish-speaking patients are eligible for participation