Li-Fraumeni syndrome

This study is testing a new blood test that looks for DNA fragments from tumors in people with hereditary cancer syndromes like Lynch syndrome or BRCA mutations. The goal is to see if the test can find cancers earlier than standard screening methods. Researchers will compare canc…

This study aims to learn more about heart and blood vessel diseases by observing people who have them or are at risk. Researchers will collect samples and perform tests like imaging and stress tests on up to 5,000 participants, including healthy volunteers and relatives of affect…

This study aims to learn more about Li-Fraumeni syndrome (LFS), a genetic condition that raises the risk of several cancers. Researchers will study up to 5,000 people with LFS or related cancer histories to find new genes, understand how the TP53 gene works, and identify factors …

This study creates a database and biobank for people with Li-Fraumeni syndrome or related TP53 gene changes, conditions that raise the lifetime risk of cancer to as high as 90%. Researchers will collect clinical data, blood samples, and tumor tissue from up to 300 participants to…

This study follows 4700 women with high-risk gene mutations (like BRCA1/2) who choose to have a nipple-sparing mastectomy to prevent breast cancer. Researchers want to see if keeping the nipple is safe over many years, compared to traditional mastectomy that removes it. The goal …

This study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…

This study asks 500 people with Li-Fraumeni syndrome (or their parents) to fill out a questionnaire about why they would or would not join a future trial comparing standard genetic counseling to a personalized version. The goal is to understand what factors influence their decisi…

This study is collecting information and samples from 1,500 people with TP53 gene changes (linked to Li-Fraumeni Syndrome, a condition that raises cancer risk) and their relatives. Researchers want to better understand how these gene variants affect cancer risk and how accurate f…

This study looks back at nearly 2,000 people who had genetic testing for the TP53 gene, which is linked to a high risk of many cancers. Researchers want to find out how often harmful changes in this gene occur and how they differ across groups. The goal is to improve genetic coun…

This study is creating a registry for people with Li-Fraumeni syndrome, a rare genetic condition that raises the risk of several cancers. Researchers will collect medical, genetic, and quality-of-life data from 200 participants in Italy. The goal is to better understand the disea…