Intestinal polyposis syndrome

This study tests whether everolimus, a drug already approved for other conditions, can safely improve social abilities in people with PTEN Hamartoma Tumor Syndrome (PHTS). About 60 adults and children with PHTS and social difficulties will take either everolimus or a placebo for …

This study tests two low doses of rapamycin, a drug usually used to prevent organ rejection, in 25 teenagers (ages 12-17) with familial adenomatous polyposis (FAP), a genetic condition that causes many colon polyps and raises cancer risk. The main goal is to see if the drug is sa…

This study compares a new DNA sequencing platform (MGI) against the current standard (Illumina) for diagnosing hereditary cancers like breast and ovarian cancer, Lynch syndrome, and intestinal polyposis. Researchers will analyze 248 patient samples using both platforms to see if …

This study tests whether a new online program can help families understand their inherited cancer risk and encourage relatives to get low-cost genetic testing. Researchers will enroll 400 adults who carry a cancer-related gene change and their family members. The goal is to see i…

This study will collect blood and tumor tissue from up to 50,000 adults with hereditary or genetic-linked cancers. Researchers will use these samples to create lab-grown tumor models, like mini-tumors, to study how these cancers work and test new treatments. The goal is to better…

This study will follow 100 people who need a stoma (an opening in the belly to pass stool) after surgery. Some will have their stoma site marked and get education before surgery, while others will not. The goal is to see if these steps improve quality of life and reduce problems …