Birt-Hogg-Dube Syndrome

Researchers are investigating how kidney cancers, including renal cell carcinomas and urothelial cell carcinomas, use different nutrients to support tumor growth. The study aims to understand how these cancers metabolize various nutrients found in the blood and common foods. This knowledge may help develop new treatments targeting cancer metabolism and improve imaging techniques for kidney cancer care. Participants may receive an intravenous infusion of a specially labeled nutrient tracer, such as 13C-glucose, 13C-acetate, 13C-lactate, 13C-glutamine, or 13C-fructose, during surgery or biopsy. The infusion typically lasts 2 to 3 hours before tumor removal. Blood samples will be collected every 30 minutes during the infusion to monitor safety and track nutrient use by the tumor. Some participants will have tissue collected without infusion after surgery or biopsy. During the study, participants will undergo standard surgical procedures for their cancer without changes to their usual care. Researchers will collect tissue samples during or after surgery or biopsy to analyze how cancer cells use the infused nutrients. Blood tests will be done regularly during infusion to monitor glucose levels and blood acidity. The main outcome measured is the distribution of the labeled nutrient in the cancer tissue over five years. Participation duration varies depending on surgery timing and follow-up needs.

Researchers are studying an experimental blood test that detects early tumors in patients with hereditary cancer syndromes. This test, called cell-free DNA (cfDNA) analysis, aims to improve cancer screening by identifying cancer sooner than standard methods. The study compares cancer detection rates and timing between patients receiving cfDNA testing and those receiving regular care, while also exploring the impact on patients' quality of life and psychological well-being. Participants are divided into two groups: the experimental group provides blood samples every four months for four years for cfDNA testing, with results given back to them. Those with positive results will be offered follow-up tests to confirm cancer presence. The control group continues with their usual cancer surveillance without cfDNA testing. Both groups complete questionnaires and interviews to share their experiences and views on the blood test. During the study, participants attend regular blood sample collections, often coordinated with routine clinical blood draws to reduce extra procedures. Researchers measure cancer detection rates over four years and assess if cfDNA testing leads to earlier cancer diagnosis. They also evaluate participants' cancer-related worry, anxiety, and quality of life. The study lasts for four years, with ongoing monitoring and support to understand the test's clinical and personal impact.

Researchers are evaluating a mobile health platform called a chatbot, which uses artificial intelligence and natural language processing to improve communication about genetic testing for hereditary cancer risk. The study focuses on patients at increased risk of familial cancer syndromes in a Medicaid gynecology clinic. The goal is to see if the chatbot can increase recommendations for genetic testing and to understand factors affecting patient access and use of genetic services. Participants will be randomly assigned to either receive the chatbot intervention or usual care. The chatbot starts conversations via text messages to collect personal and family cancer history, identifies high-risk patients using National Comprehensive Cancer Network (NCCN) criteria, provides pre-test genetic counseling, and notifies clinicians to recommend genetic testing. The usual care group will have clinicians collect family history during visits and recommend testing based on NCCN criteria. Genetic testing orders are completed by clinicians for interested patients in both groups. During the two-year study period, participants will be monitored for the proportion recommended genetic testing and the proportion who complete testing. Researchers will assess barriers and facilitators related to inequities in genetic service utilization. Data will be collected through chatbot interactions, clinician evaluations, and follow-up. The study is sponsored by Weill Medical College of Cornell University and aims to improve hereditary cancer risk assessment in an underserved population.

This research aims to evaluate if the Nest software platform can improve cancer screening and care in young adults who have a genetic risk for cancer. The study focuses on whether using Nest helps patients better understand their cancer risks, feel less psychological stress, share risk information more with family and doctors, and keep their care plans up to date. The trial involves comparing patients who use Nest to those who do not. The Nest platform integrates genetic data into patient care through tools for both clinicians and patients. Clinicians use the Nest Care Studio to manage genetic information and order personalized care plans, while patients access the Nest Patient Navigator on mobile devices to store results, understand risks, follow care recommendations, and share information with relatives and other doctors. The study includes two groups: a control group receiving standard genetic counseling and an intervention group using Nest alongside counseling. Both groups complete surveys after visits, and patients follow recommended screening and care plans. Participants will have a genetic counseling or follow-up visit, complete post-visit surveys, and those in the intervention group will use the Nest Patient Navigator. Researchers will assess knowledge of cancer risks, psychological distress, information sharing, and adherence to care plans using multiple measures shortly after visits. The study also tracks clinician use of Nest features and guideline-based care. Participation lasts through the visits and follow-up recommended care, aiming to improve long-term management of hereditary cancer risk.

Researchers are studying genetic factors and molecular pathways involved in various genitourinary cancers, including kidney, prostate, bladder, testis, and penile cancers. These cancers represent a significant portion of cancer diagnoses and deaths in the United States. The study aims to understand the differences between normal and cancerous tissues, investigate gene and protein markers, and examine responses to current and new treatments. The research also includes quality of life studies in men with prostate cancer and explores inherited conditions linked to increased cancer risk. Participants include individuals with biopsy-proven or suspected malignant genitourinary diseases, those with known or suspected inherited cancer disorders, and family members related by blood to affected individuals. Blood and urine samples may be collected, and tissue samples—both benign and malignant—may be obtained during clinically necessary surgeries. The study involves genetic sequencing and molecular analysis of collected specimens, with ongoing investigations into gene mutations and biochemical pathways. During participation, patients will be seen at the Urologic Oncology Branch, where samples will be collected and stored for research. Participants may be contacted if findings relevant to their health arise, with the opportunity for further evaluation. The study involves ongoing assessments of quality of life and molecular genetic outcomes. Participation includes signing informed consent, and the study accommodates both adult and pediatric patients, tracking molecular and clinical data over time.

Researchers are collecting and storing data, tissue samples, and personal and family histories from patients being screened for colorectal cancer and endometrial cancer during routine clinical care. The study aims to discover new genetic mechanisms and proteins related to hereditary cancer syndromes to help develop targeted therapies and prevention strategies. It also focuses on understanding how the immune system can recognize and attack tumor cells carrying mutations. Participants include those with hereditary cancer syndromes undergoing endoscopy or surgical procedures, both with and without treatment using NSAIDs, as well as average-risk individuals undergoing routine lower gastrointestinal procedures. Tissue samples such as normal mucosa, polyps, adenocarcinomas, and blood are collected during standard care procedures like endoscopy, surgery, transvaginal ultrasound, hysteroscopy, and endometrial biopsy at Weill Cornell and New York Presbyterian Hospital. Participants provide informed consent to allow collection and storage of clinical data including demographics, medical history, and outcomes. Samples are processed and stored for future research. The study will monitor novel genetic predispositions, potential therapy targets, and immune responses over a period of seven years to create a valuable hereditary colorectal and endometrial cancer registry and tissue repository.

Researchers are studying an investigational blood test called the GRAIL Galleri test, designed to detect many types of cancer early. This study focuses on people at slightly higher than average risk of developing certain cancers, including those with genetic cancer predisposition syndromes or a strong family history of cancer. The goal is to evaluate the benefits and possible harms of this multi-cancer early detection (MCED) test in a prospective, interventional setting lasting up to three years. Participants will undergo baseline questionnaires and a blood test using the Galleri MCED test. Depending on the test result, follow-up may vary: those with a negative test will have recommended cancer screenings and a follow-up phone call one year later, while those with a positive test may have additional clinic visits, lab tests, biopsies, surgeries, or imaging scans such as ultrasound, CT, or MRI. If cancer is confirmed, participants will complete a post-diagnostic questionnaire. During the study, participants will complete questionnaires and blood tests at scheduled visits. Researchers will monitor cancer detection rates up to two years and track outcomes like cancer stage at diagnosis, positive predictive value at 12 and 24 months, time to diagnostic resolution, participant anxiety, quality of life, and costs related to follow-up testing. The study expects to enroll about 1,000 people and lasts up to three years, including follow-up assessments and safety monitoring.

Researchers are studying the feasibility and acceptability of offering hereditary cancer risk screening alongside standard prenatal genetic testing in patients receiving routine prenatal or preconception care. The study aims to assess interest in genetic testing for inherited cancer risk and explore if universal screening during these periods can help support early cancer prevention. This is a prospective, interventional trial conducted at Columbia University-affiliated obstetrics clinics. Participants will meet with a clinician who will review options for combining hereditary cancer screening (HCS) with obstetrical carrier screening (OCS). Those interested will receive counseling on the benefits and risks of genetic testing, have blood drawn for both OCS and the Natera Empower Hereditary Cancer Panel for cancer screening, and may consult with a genetic counselor and financial representative. OCS results are reported per standard care, while HCS results are delivered by a genetic counselor with follow-up counseling and referrals as needed. Participants will complete surveys about their experience and decision regret at multiple time points, and demographic and clinical data will be securely stored. Those with mutations indicating clinical follow-up needs will be contacted 18 months later to check on follow-up completion. Interviews may also be conducted by phone. The primary outcome is the percentage of participants completing both screenings, with secondary outcomes including regret survey scores and use of cancer risk mitigation strategies. The study is expected to complete recruitment over approximately two years.

This research focuses on individuals who have a hereditary risk for various cancers due to mutations in the BAP1 gene. The study aims to better understand the clinical features and frequency of BAP1-related cancer syndrome, which includes cancers such as uveal melanoma, cutaneous melanoma, mesothelioma, renal cell carcinoma, and others. By characterizing those at high risk, the study hopes to improve screening, prevention, and treatment strategies for patients and their families with this hereditary condition. Participants include those with personal or family histories of cancers linked to BAP1 mutations, as well as individuals with documented BAP1 gene variants. The study is observational and does not involve treatment but collects detailed clinical and genetic information over time. The research will monitor the prevalence of BAP1 variants, clinical tumor features, and age of onset, while also assessing environmental and genetic factors that may influence cancer risk. Throughout the study, participants will provide medical history and family cancer information, complete questionnaires on environmental risks, and undergo genetic testing. Researchers will analyze tumor pathology and genetic changes to understand disease progression and treatment outcomes. The study spans multiple years, with primary outcomes measured over five years and secondary outcomes over ten years, aiming to provide comprehensive data to guide future management of BAP1 hereditary cancer syndrome.

Researchers are studying Birt-Hogg-Dube (BHD) syndrome, a rare inherited condition that causes benign skin tumors and increases the risk of kidney cancer. The study aims to understand the types and characteristics of kidney tumors linked to BHD, the risk of kidney cancer in affected individuals, whether more than one gene causes BHD, and the genetic mutations responsible for the disorder. The research also explores connections between genetic changes and disease symptoms.