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 tests clinical and personal impact.

Researchers are evaluating a mobile health platform called a chatbot that uses artificial intelligence and natural language processing to communicate with patients at an all-Medicaid gynecology clinic. The study aims to compare this chatbot system to usual care to see if it improves recommendations for genetic testing among patients at high risk for familial cancer syndromes. The study also seeks to understand factors that affect patient access to and use of genetic testing services, focusing on inequities. Participants will be assigned to one of two groups. In the chatbot group, patients receive a text message to start a chatbot conversation that collects personal and family cancer history and identifies high-risk patients based on National Comprehensive Cancer Network criteria. The chatbot provides pre-test genetic counseling and notifies clinicians about high-risk patients, who then complete counseling and recommend genetic testing if appropriate. In the usual care group, clinicians collect personal and family cancer history during visits and evaluate risk according to guidelines before counseling and recommending testing. Genetic testing is ordered for interested patients meeting criteria. Participants will be monitored over two years to measure outcomes such as the proportion of patients recommended for genetic testing and the proportion completing testing. The study also assesses patient satisfaction, distress levels, decision satisfaction, facilitators and barriers to genetic testing, and other scales related to inequity in utilization of genetic services. These evaluations include questionnaires and surveys to understand patient experiences and access to care during the study period.

Researchers are studying the genetic causes and molecular characteristics of urologic cancers including kidney, prostate, bladder, testis, and penile cancers. These cancers make up a significant portion of cancer diagnoses and deaths in the United States. The goal is to better understand gene pathways involved in these malignancies to aid in developing targeted treatments. This observational study collects blood, urine, and tissue samples from individuals with confirmed or suspected malignant disease or inherited urologic cancer risks. Participants include patients with biopsy-proven or suspected malignancies and their blood relatives who may have inherited cancer risks. Samples of blood, urine, and both normal and malignant tissue are collected during clinical visits and surgeries. These specimens are stored in a tissue bank and used for genetic sequencing, protein expression analysis, and research on cancer gene mutations and biochemical pathways. The study also investigates quality of life in men with prostate cancer and responses to existing and novel cancer therapies. During the study, participants undergo eligibility screening and may provide biological samples at initial and periodic visits. Tissue samples are collected during clinically indicated surgeries. Researchers analyze these samples using molecular and biochemical methods to identify genetic differences and markers. Participants may be contacted if significant health-related findings arise. The study involves ongoing assessments of genetic and molecular data and quality of life, continuing over time without a fixed end date.

Researchers are studying colorectal cancer CRC, endometrial cancer EC, and hereditary cancer syndromes to better understand genetic predispositions and new treatment possibilities. The study focuses on discovering new mechanisms in intestinal cancer development, identifying genes and proteins for targeted therapies, and exploring how the immune system can recognize and eliminate tumor cells. It aims to create a valuable resource for future research on hereditary and sporadic cancer cases. Participants provide tissue, blood, and clinical data collected during routine clinical care procedures such as gastrointestinal endoscopies, surgeries, transvaginal ultrasounds, hysteroscopies, and endometrial biopsies. Samples include normal mucosa, polyps, tumors, and blood used for molecular and genetic studies. Organoids derived from these tissues will be used to assess drug sensitivity and study cancer biology. During the study, participants clinical data, family history, and biospecimens are collected and stored for future research. Data includes demographics, medical history, treatment details, and outcomes from standard care. This observational study does not involve experimental treatments but contributes to a hereditary cancer registry and tissue repository. The study plans to continue follow-up until 2027, assessing novel genetic mechanisms and immune responses over seven years.

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 investigating Birt-Hogg-Dube BHD syndrome, a rare inherited condition that causes benign tumors on the skin and increases the risk of kidney cancer. The study aims to understand the genetic causes of BHD, the types and characteristics of kidney tumors linked with it, and whether more than one gene is involved. It also seeks to explore the risk factors for kidney cancer and other related conditions such as lung cysts and skin lesions in affected individuals. Participants include individuals with known or suspected BHD and their family members. They undergo various assessments including physical exams, review of medical and family history, imaging scans like CT, MRI, ultrasound, and X-rays, blood tests including genetic testing, skin biopsies, cheek swabs, lung function tests, and medical photography of skin lesions. These tests are performed on an outpatient basis, either in one day or over several days. Participants with kidney lesions may be asked to return for periodic follow-up visits every 3 to 36 months to monitor lesion progression. During the study, participants receive counseling about their test results and recommendations. Researchers will track the characteristics of renal tumors, their growth rates, and related genetic factors. The study also collects data on genotype-phenotype correlations and the natural history of BHD-related tumors. Participation involves initial screening and repeated monitoring for some, with the goal of better understanding BHD and its relationship to kidney cancer and other symptoms.

Researchers are studying pheochromocytomas and paragangliomas, which are tumors arising from nerve-related cells that often run in families and have varied genetic causes. The study aims to find new genes involved in these tumors and to understand how specific genetic changes relate to disease features, helping guide diagnosis and follow-up care for patients and their relatives. This research focuses on improving knowledge about inherited cancer syndromes linked to these tumors. Participants will provide germline andor tumor samples for genetic screening to detect mutations. The study will analyze these genetic samples to identify both inherited and tumor-specific mutations that may drive tumor development. This observational study does not involve treatments but collects data to map genetic variations and their clinical impacts. During the study, researchers will review genetic data and clinical features from participants and their families. Outcomes include identifying mutations and related genetic variants, as well as other clinical signs associated with these conditions. The study typically takes around six months to complete the genetic analyses and will help improve genetic screening and monitoring strategies for affected individuals and at-risk family members.