Active clinical trials for "Neoplastic Syndromes, Hereditary"

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. These interventions will be delivered to individuals with a documented pathogenic/likely pathogenic (P/LP) variant or variant of uncertain significance (VUS) in an inherited cancer gene.

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.

Background: At the present time, there are no drugs that have been proven to work in patients with papillary kidney cancer that has spread (metastasized) beyond the kidneys. Researchers are interested in determining whether the combination of the drugs bevacizumab and erlotinib can be used to treat metastatic papillary kidney cancer. Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) is an inherited type of papillary kidney cancer (it runs in families). Papillary kidney cancer can also occur sporadically, or without a family connection. More research is needed to determine whether treatments for papillary kidney cancer, such as bevacizumab and erlotinib, work in inherited or sporadic types of kidney cancer, and if so, whether there are any differences. Objectives: -To determine the effectiveness of the combination of bevacizumab and erlotinib as a treatment for patients with (1) metastatic HLRCC kidney cancer and (2) metastatic kidney cancer not associated with HLRCC (or sporadic papillary RCC). Eligibility: Individuals 18 years of age or older who have been diagnosed with papillary kidney cancer that has spread beyond the kidneys. Participants may have either HLRCC or sporadic papillary kidney cancer. Design: Participants will be screened with a full medical history, physical examination, blood and urine tests, and computed tomography (CT) and other scans to evaluate tumor size and treatment options. Participants will receive 28-day treatment cycles of bevacizumab (given intravenously every 2 weeks) and erlotinib (a tablet taken by mouth daily). Every cycle, participants will return for regular blood and urine tests. Every other cycle, participants will have imaging scans to assess tumor size and response to treatment. Female participants who have uterine fibroid tumors related to their kidney cancer may have additional scans to assess tumor size and response to treatment. Participants will continue to receive treatment on the study until their tumors grow or spread to new areas (disease progression), intolerable side effects develop, a better treatment option becomes available, the study closes, it is unsafe to continue treatment, or the participant decides not to remain in the study.

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 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.

An electronic decision aid will be used to assist individuals in choosing a multi-gene panel with their medical oncologist instead of a genetic counselor. A decision aid may facilitate quality decisions around the selection of a specific multi-gene panel without a genetic counselor. Upon completion of the decision aid, participants will be asked to indicate their decision about whether to pursue genetic testing and which specific multi-gene panel to pursue. A survey will then be administered to assess participants' opinions on the decision aid.

The goal of this study is to develop an effective, sensitive blood test that can detect early tumours in patients with known or suspected hereditary cancer syndromes (HCS). If this new blood test is accurate, it could be used to screen patients for cancer and allow for earlier cancer detection. The study will also use questionnaires and interviews to understand how patients feel about incorporating these tests into routine medical care, and the perceptions of the medical value of test results.

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.

Assessment of the utility of family-based (trio) whole-genome sequencing for cancer predisposition testing in sequential newly diagnosed paediatric and adolescent cancer patients

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).