Active clinical trials for "Peutz-Jeghers Syndrome"

100 subjects who have a family history of pancreatic cancer (PC), or known genetic syndromes associated with increased risk of pancreatic cancer, will be followed for five years. This data will be used to determine the pancreatic cancer and precancerous lesion detection rate in High Risk Individuals (HRIs). Subjects may agree to annual imaging and annual biomarkers or to biomarkers only.

The purpose of this study is to find the best and most sensitive screening modality (CT, MRI, EUS)for very small pre-cancerous pancreatic lesions and to treat these small lesions before they turn into cancer. Another purpose of this study is to search for common markers on DNA that would increase the chance of someone developing pancreatic cancer, and locate proteins in pancreatic juice that indicate tumor development.

Lentiginosis refers to groups of diseases marked by the presence of pigmented spots on the skin. These conditions are most commonly associated with multiple tumors and changes in hormone producing glands. The cause of these diseases is unknown, but researchers suggest there may be a level of inheritance involved in their development. Meaning to say that some of these diseases may "run in the family" and be passed down form generation to generation. Primary pigmented nodular adrenocortical disease (PPNAD) is a pituitary-independent, primary adrenal form of hypercortisolism characterized by; Resistance to suppression by the drug dexamethasone The body is unable to secrete cortisol in a normal rhythm Distinct microscopic changes of both adrenal glands PPNAD can be associated with tumors (myxomas) of the skin, heart, breast, tumors (swannomas) of the nerve sheaths, pigmented spots (nevi and lentigines) of the skin, growth hormone (GH) producing tumors of the pituitary gland, and tumors of the testicles, ovaries, and thyroid gland. In the presence of these associations the condition is referred to as the Carney Complex. Presently there are no tests for screening of PPNAD and the Carney Complex. In addition, it is unknown how these conditions are genetically transferred from generation to generation. This study proposes to use standard methods of clinical testing for endocrine and nonendocrine diseases and genetic testing in order to; Define the genetic basis for PPNAD and/or the Carney Complex. Determine the molecular changes associated with the development of the tumors. Identify carriers of the disease. Determine the prognosis for carriers and affected individuals. Provide sufficient data for genetic counseling of families with PPNAD and/or Carney Complex.<TAB>...

After informed consent, participants will be asked to complete a medical/family history questionnaire and provide a blood sample. Participants will also be asked for their permission for study investigators to access medical records and/or recontact them for updates to their medical and family histories. Data and biospecimens will be stored for potential future research projects.

The mutation of STK11 has been regcognized to be the major cause of Peutz-Jeghers syndrome (PJS).The aim of this study was to confirm the mutation rate of gene associated with gastrointestinal malignancies,including STK11, APC,PMS1,et al. Furtherly, the investigators analyze the association of STK11 with gut microbiota.