26 Clinical Trials for Various Conditions
This clinical trial tests whether various web-based tools can help improve communication about hereditary cancer risk in families and decrease barriers to genetic testing for relatives of patients with hereditary cancer syndromes. Between 5% and 10% of all cancers are caused by genetic changes that are hereditary, which means that they run in families. Some kinds of cancer or certain cancers diagnosed in biological relatives may mean patients are more likely to have a genetic change. Once a genetic change is identified in a family, other biological relatives can choose to undergo testing themselves to better understand their cancer risk. The uptake of genetic testing in other biological relatives once a genetic condition is identified is about 20% to 30%. The Cascade Genetic Testing Platform is a virtual tool that seeks to overcome barriers related to logistics of family communication and improve dissemination of genetic testing information which is clinically actionable for individuals at highest risk for cancer. Using the Cascade Genetic Testing Platform may improve ways to share information about hereditary risk with biological relatives.
This trial examines approaches to identify and care for individuals with inherited cancer syndrome. The purpose of this study is to offer no cost genetic testing to the general public. Researchers hope to learn the value of providing broad, public-wide testing for high risk cancer types (like hereditary breast and ovarian cancer or Lynch syndromes) instead of only testing people whose families are known to be high risk.
The goal of this clinical trial is to address care gaps for participants at high risk of breast and ovarian cancer (HBOC), or Lynch syndrome (LS) because of testing positive for specific genetic variants. A patient-centered clinical decision support (PC-CDS) tool will help identify participants with genetic variations and display recommendations for referrals and testing to the clinician and participant at a primary care visit. The main question the study aims to answer is: - Does clinical decision support for participants with hereditary cancer syndromes improve the use of evidence-based cancer prevention care. Participants being seen in the PC-CDS group are compared to participants being seen in usual care (UC) to see if they are up to date on guideline-based cancer prevention care and to see if participants in the PC-CDS group report more shared decision making and higher rates of self-management of their genetic cancer risks. Participants will be asked to answer survey questions.
A prospective, non-interventional study to evaluate the impact of a process engineering intervention on screening and testing outcomes for common hereditary cancer syndromes in community-based OB/GYN settings.
The goal of this clinical trial is to see if a software platform can improve cancer screening in young adults with genetic risk for cancer. The trial will also help improve the software platform (Nest). The main questions it aims to answer are: * Do Nest users know more about their cancer risks and recommended care than non-users? * Do Nest users have less psychological distress than non-users? * Do Nest users share cancer risks with family and other doctors more than non-users? * Are Nest users more likely than non-users to have up-to-date care plans? Researchers will compare Nest users to non-users to see if the Nest users are more likely to do recommended cancer screening. Participants will: * Have a genetic counseling or follow up visit * Take a post-visit survey * Intervention arm only: use the Nest Patient Navigator * Complete screening and follow-up care recommended by doctors
This study will evaluate the impact InheRET™, an online family history gathering and risk assessment reporting tool, has on facilitating National Comprehensive Cancer Network(NCCN) guideline compliant referrals for cancer genetic counseling/genetic evaluation by decreasing and/or removing the barriers of 1) time-consuming in-clinic 3-generation family history collection, and 2) interpretation of the family and personal history in light of current NCCN guidelines. Identifying individuals at increased risk for cancer has been shown to decrease morbidity and mortality in multiple clinical settings. Investigators hypothesize that InheRET will prove to be accurate, efficient, and accessible, and that its use will improve identification of individuals at risk for inherited susceptibility to cancer. The investigators propose also that using this tool will result in a reduction of inappropriate genetic counseling referrals and reduce unnecessary genetic testing in both primary and specialty care settings. InheRET will allow health care providers to focus resources on individuals at higher risk for developing cancer.
The CHARM (Cancer Health Assessment Reaching Many) study will assess the utility of clinical exome sequencing and how it affects care in diverse populations. The study population includes adults at risk for hereditary cancer syndromes. The primary objective is to implement a hereditary cancer risk assessment program in healthy 18-49 year-olds in primary care settings within a vertically integrated health delivery system (Kaiser Permanente) and a federal qualified health center (Denver Health). The investigators will assess clinical exome sequencing implementation and interpretation, as well as tailored interactions for low health literacy including a contextualized consent process, and a modified approach to results disclosure and genetic counseling. The investigators will also assess the clinical utility (healthcare utilization and adherence to recommended care) and personal utility of primary and additional results from clinical exome sequencing, and evaluate the ethical and policy implications of considering personal utility of genomic information decisions for health care coverage.
The IMPACT Study seeks to refine and evaluate the effectiveness of interventions on improving guideline-adherent cancer risk management (CRM) and family communication (FC) of genetic test results for individuals with a documented pathogenic/likely pathogenic (P/LP) variant, and FC of family cancer history for individuals with a variant of uncertain significance (VUS) in an inherited cancer gene.
This clinical trial tests next generation sequencing (NGS) for the detection of precursor features of pre-myeloid cancers and bone marrow failure syndromes. NGS is a procedure that looks at relevant cancer associated genes and what they do. Finding genetic markers for pre-malignant conditions may help identify patients who are at risk of pre-myeloid cancers and bone marrow failure syndromes and lead to earlier intervention.
Selected patients suspected of having or with prior biopsy proof of malignant disease will be seen in the Urologic Oncology Branch, NCI. Blood samples may be collected at the time of the initial visit and at periodic intervals during the course of the disease. These samples will be stored in the tissue bank of the Urologic Oncology Branch. Aliquots of malignant and normal tissue will be collected at the time of surgery and stored in the tissue bank, Urologic Oncology Branch, NCI. These materials will be used in the research efforts of the Urologic Oncology Branch, NCI.
This study will look at genetic changes which occur in the development of male and female breast cancer and other cancer. It will use a new technology called DNA microarray hybridization that looks at a wide array of genes to identify disease-associated patterns in the human genome (complete set of human genes). Numerous studies have linked particular genes to a given disease, but there is very little information on patterns of gene expression (production of proteins from genetic coding) in the entire human genome. Pinpointing genetic abnormalities in disease may help classify different forms of cancer and perhaps lead to new avenues of treatment or prevention. A primary goal of this study will be to create a database of gene expression for human cancers and other disorders that will provide the basis for finding genetic abnormalities in disease. Tumors specimens used in this study will be taken from tissues biopsied from patients with breast, colon cancer, sarcomas or melanoma as part of their routine care. Patients in the study will be among those receiving care at the: Department of Oncology, University Hospital, University of Lund, Sweden (breast cancer); Department of Medicine, University of Michigan, Ann Arbor, Michigan (breast cancer); Surgery Branch, National Cancer Institute, Bethesda, Maryland (melanoma), Johns Hopkins Univ. (colon cancer), Memorial Sloan Kettering (sarcoma). Patients in the study will have a family history taken and will complete a questionnaire. Some patients will be asked to have a blood test. Breast cancer patients will have a mammogram if one has not been done within the last year.
Women who are at high risk for breast cancer, either because of linkage to high risk breast and ovarian cancer families, or because of a carcinoma in the opposite breast, will be studied. Women will have a physical examination and mammography to ensure that no breast abnormalities are present. Eligible women will undergo biopsy of the breast to obtain normal breast tissue. Short-term cell cultures will be established from this tissue and early passages of the short-term cell lines will be stored. A bank of high risk normal mammary epithelial cells will be established. To further characterize the mammary epithelial cells in this population of women, cell cultures will subsequently be analyzed for their growth and metabolic properties, sensitivity to chemopreventive agents, steroid receptor characteristics, oncogene expression and regulation, and genetic changes.
Lynch syndrome (OMIM #120435) is the most common dominantly inherited colorectal cancer syndrome with an estimated prevalence of 1:270 individuals. It increases the lifetime risk of colorectal and endometrial cancer primarily, but it is associated with a high risk of other cancers (pancreas, stomach, ovarian, central nervous system, skin, among others). It is caused by a germline mutation in one of four DNA mismatch repair genes or a terminal deletion of the MSH2-adjacent gene EpCAM. Despite adherence to cancer surveillance programs, many patients still develop colorectal cancer and endometrial cancer. The Prospective Lynch Syndrome Database (PLSD) suggests that more frequent surveillance intervals do not significantly improve cancer risk reduction. The PLSD also revealed that the incidence of colorectal cancer in MLH1 and MSH2 carriers was even higher than previously expected, reaching as high as 41-36% among MLH1 carriers, regardless of ethnic background. The development of colorectal cancer despite surveillance is an unresolved question. Therefore, there is an unmet need for effective cancer prevention strategies.
The primary aim of this study is to collect and store data, tissue, and personal and family histories from patients being screened for colorectal cancer and/or endometrial cancer at NYPH and WCM for routine clinical care and to make these available for future use for molecular and mechanistic studies.
The goal of this sequential study design is to increase genetic testing in those meeting national clinical guidelines. The main question it aims to answer is: which intervention is most effective in uptake of genetic testing for the target population? Participants will receive genetic testing and counseling that may initiate life-saving screenings.
In this study, the investigators aim to compare a mobile health platform, known as a 'chatbot,' that leverages artificial intelligence and natural language processing to scale communication, to 'usual care' that patients would receive. This comparison will enable the investigators to determine if the chatbot system can improve rates of recommendation for genetic testing among patients at elevated risk of harboring a familial cancer syndrome in an all-Medicaid gynecology clinic. Furthermore, the investigators aim to evaluate facilitators of inequity in regard to patient access to and utilization of genetic testing services.
The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g. ACE/CHIP and mosaicism).
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene. An individual with this mutation has a \>90% chance of developing many different forms of cancer in their lifetime. Since germline TP53 gene mutation carriers are highly susceptible to cancer, cancer prevention strategies and early cancer detection strategies are crucial. Unfortunately, the current standard of care for monitoring germline TP53 gene mutation carriers for early signs of cancer is yearly MRI scans and intermittent blood draws. Villani et al. showed that standard monitoring is inadequate and introduced a more sophisticated protocol for early cancer detection. We extended the Villani et al. protocol to include a number of markers for early detection and are currently vetting their utility, in terms of their inherent variability, patient tolerability of frequent interrogation, and ability to show changes that might indicate a need for further examination. In addition to the markers being collected, important covariate information, such as diet, sleep, and activities are being collected (via, e.g., wearable wireless devices) in order to take them into account in assessing the levels of the markers at a single data collection time or over time. One important aspect of the protocol is to identify changes, rather than specific levels, in marker status over time for an individual that might be indicative of tumor formation, essentially exploiting the concept of 'personalized thresholds' discussed by Drescher et al. If any indication of the presence of a cancer, tumorigenic process, or general sign of ill-health is observed, the protocol calls for a discussion of the findings among the research team, followed by a discussion between the clinical lead on the research team and the primary care provider and/or specialists overseeing a participating patient's care, possible validation of the assay(s) motivating the discussions, and a decision on how to intervene on the part of the primary care provider and/or specialists.
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe, secure, and convenient online platform, to * expand the understanding of SDS * improve the lives of people with SDS, and * accelerate the development of new therapies and cures for SDS. By joining, participants will receive early access to relevant information about new clinical trials and other research opportunities (such as clinical registries) based on their profile, accelerating research and increasing clinical trial impact and recruitment success. The platform, consent forms, and surveys are available in five languages: English, Spanish, French, German, and Italian. More languages to come.
Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous. Genetic screening is recommended for patients and their relatives, and can guide clinical decisions. However, a mutation is not found in all cases. The aims of this proposal are to: 1) to map gene(s) involved in pheochromocytoma, and 2) identify genotype-phenotype correlations in patients with pheochromocytoma/paraganglioma of various genetic origins.
Background: Gastric cancers are cancers of the stomach. Hereditary ones are passed from parent to child. Researchers want to gather data about hereditary gastric cancers. They want to learn about changes these cause in the body and about the genes involved. Objective: -To gather data about hereditary gastric cancer. Eligibility: * People at least 2 years old with personal or family history with a hereditary gastric cancer. * People at least 2 years old with gene changes that lead to such cancer or a lesion that may be hereditary. Design: * Participants will be screened in a separate protocol. * Participants will have: * Physical exam * Medical history * Blood tests * Scans * Photos of skin lesions and other findings * Gynecology consultation for women * Cheek swab (some participants) * For some participants, their relatives will be asked to join the study. * Some participants will be asked to allow the study to get stored tissue samples for relatives who have died. * Some samples will be sent to outside labs. All personal data will be protected. Samples will be destroyed when the study ends. * Participants will get the results of genetic testing. * Participants who cannot come to the NIH clinic may just give a cheek swab and have genetic testing done. * Some participants will be contacted for more testing.
Background: - Research has shown that the drug everolimus can stop cancer cells from growing. It is approved for people with advanced kidney cancer. Researchers want to see if it also helps people with two other types of kidney cancer. Objective: - To see if everolimus is safe and effective in people with Birt-Hogg-Dube Syndrome (BHD)-associated kidney cancer or sporadic (nonfamilial) chromophobe renal cancer. Eligibility: - People ages 18 and over with BHD-associated kidney cancer or advanced sporadic chromophobe renal cancer. Design: * Participants will be screened with: * Medical history, physical exam, and blood and urine tests. * Computed tomography (CT) scan or magnetic resonance imaging (MRI) scan. They will lie in a machine that takes pictures of their chest/abdomen/pelvis. * They may also be screened with: * Another scan, of the brain or neck. * Bone scan. * Positron emission tomography scan with fludeoxyglucose (FDG-PET). * Heart and lung tests. * Tests for hepatitis. * Participants will take a tablet once a day by mouth for up to a year. They will keep a diary of when they take the tablet and any symptoms. * During the study, participants will have physical exams and urine and blood tests. They will have scans of the chest/abdomen/pelvis. They may have FDG-PET and bone scans. * Participants will have tests for hepatitis and may have a tumor sample taken. * Participants will have a follow-up visit 4-5 weeks finishing taking the drug. They will have a physical exam and blood tests. They may have scans and/or hepatitis tests. * Participants will be called about every 3-6 months after the study ends to see how they are doing
This is a randomized trial to evaluate the effectiveness of an electronic decision aid tool versus a traditional genetic counselor session for multi-gene panel testing for people with ovarian or pancreatic cancer
Tuberous sclerosis is a rare, hereditary disease in which patients develop multiple tumors. Although not cancerous, the tumors can affect various organs, including the heart, lungs, kidneys, skin, and central nervous system, with serious medical consequences. The severity of disease varies greatly among patients, from barely detectable to fatal. This study will investigate what causes skin tumors to develop in patients with this disease. Patients with tuberous sclerosis 18 years and older may enroll in this study. Participants will undergo a medical history and thorough skin examination by a dermatologist. Those with skin tumors will be asked to undergo biopsy (tissue removal) of up to eight lesions, under a local anesthetic, for research purposes. The biopsies will all be done the same day. The tissue samples will be used for: examination of genetic changes, measurement of certain proteins and other substances, and growing in culture to study the genetics of tuberous sclerosis.
Investigation of the causes of genetic defects relating to hereditary urologic malignancies will be undertaken. These rare disorders result from inherited or newly arising mutations in genes involved in the development and function of different organ systems. As specific disease syndromes are recognized and the responsible genes identified, mutations in individual families can be identified. Correlation of mutation sites with clinical information will help determine how specific gene segments encode important functional protein domains. Families with urologic malignant disorders of known or suspected genetic basis will be enrolled. Genetic linkage studies will include all available family members, while gene sequence analysis will be performed on affected individuals. Unaffected family members or unrelated normal individuals will serve as controls. The family members will be identified by the proband or proband's parent when the initial pedigree is taken. Subjects considered by the investigators to be appropriate for linkage studies will be invited to participate by the local genetics provider or by the investigators, who will then connect these members to their own local providers for enrollment. In our studies of inherited urologic malignant disorders, there may be individuals from renal cancer families who do not undergo clinical evaluation for the presence of an inherited urologic malignant disorder at the National Institutes of Health because of their health problems, geographical location, or personal preference. Even though these individuals do not undergo a clinical evaluation of their suspected inherited urologic malignant disorder at the National Institutes of Health, they may have rare diseases that are extremely important to study. Therefore, we intend to collect blood samples for genetic studies from these individuals to facilitate linkage analysis and disease gene identification. Samples will be collected either by the individual's physician and sent to NIH, or will be collected by NIH physicians at either the individual's off-site location or at the NIH.
The purpose of this study is to identify affected individuals in families with prostate cancer and to use this information to identify genetic markers closely-linked to the disease gene.