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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.
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.
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).
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.
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.
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