Our mission
The LiFT UP Study is being done to understand changes in the TP53 gene (called mutations or variants) that can be found in a blood sample, both those that are and those that are not associated with Li Fraumeni syndrome (LFS).
Join LiFT UP and help us to better understand cancer risks for people and families with TP53 gene changes, with and without LFS.
Our goals are to learn how to:
- Determine if a person who has a TP53 variant found in a blood test was born with the variant, or if the variant occurred later in life. When a TP53 variant is present from birth, it is associated with LFS. If the TP53 variant appeared later in life, it is called ACE or CHIP. ACE or CHIP findings can be important for other health conditions.
- Better predict cancer risks for people who have a TP53 mutation in their blood, whether as part of LFS or as a type of ACE or CHIP
Li-Fraumeni syndrome and TP53
Li-Fraumeni syndrome (LFS) is a hereditary condition that increases a person’s chance for developing certain cancers. Everyone has 2 copies of a gene called TP53. People with LFS are usually born with a change (also known as a variant or mutation) in one of their TP53 copies. This variant prevents the gene from doing its job normally. Less commonly, some people appear to have LFS based on their personal and family cancer history, even if their genetic testing does not show a TP53 gene variant.
People who have LFS may develop two or more cancers, especially some rare cancers, often at very young ages. Relatives can be tested to see whether they share the TP53 variant. However, some people with LFS or TP53 variants will never develop cancer.
TP53 changes not associated with LFS
Some people who get genetic testing may have results suggesting that they have an acquired TP53 variant, meaning that the change occurred later in life, and is not associated with LFS. Those people usually do not share the TP53 variant with family members.
It is important to know when this occurs, as the cancer risk for these people is much lower, and their relatives would not be at risk to inherit the TP53 variant.
Funding
The LiFT Up Study is funded by the National Cancer Institute.
LiFT Up investigators
City of Hope:
Stephen Gruber, M.D., M.PH., Ph.D.
Dana-Farber Cancer Institute:
Judy E. Garber, MD, MPH, Huma Q. Rana, MD, Junne Kamihara, MD, PhD
Baylor College of Medicine:
Christopher Amos, PhD
Supporting organizations
LFSA (Li-Fraumeni Syndrome Association): A patient/family support organization for LFS
Living LFS: A patient/family support organization for LFS
The George Pantziarka TP53 Trust: A patient/family support organization for LFS
LiFE Consortium: A group of researchers, physicians, and genetic counselors who are studying LFS together
Other collaborators
Many physicians who are part of the City of Hope Clinical Cancer Genomics Research Network, or who are not in the Network but take care of cancer genetics patients and families follow one or more individuals with a TP53 finding on their genetic test. They are offering enrollment into the LiFT UP study to these patients and families as well.