This study was initiated in the 1970s as a survey of families where one member was diagnosed with sarcoma in childhood and treated at The University of Texas MD Anderson Cancer Center. In 1990, through collaborative efforts, inherited mutations in the TP53 gene were found in patients with LFS, the only gene to be associated with this syndrome. This observation allowed our group to offer research testing in extended families, and identify mutations in people that may have not otherwise had any genetic testing.
This is not a diagnostic, but long term study including multiple generations followed over time. The study has expanded to include over 370 families with clinical diagnosis of Li-Fraumeni and Li-Fraumeni Like syndrome. Out of these families, we have over 180 families where a gene change (mutation) in TP53 gene has been identified and over 1000 family members that have donated blood and tissues, making it one of the larger research collections of families with Li-Fraumeni syndrome.
Study Info and Eligibility
The overall goal of this genetic research study is to find out why some people develop cancers and tumors, why some families have more cancers than others, and whether certain genes or regions of DNA (the genetic material of cells) affect a person's risk of getting cancer.
The specific aims of the study are to test for 1) changes in candidate tumor-suppressor genes (including the TP53 gene), 2) other potential cancer-susceptibility genes and 3) small changes in related genes that can modify the risk for cancer (so called risk-modifier genes).
Adults and children (Note: children under 18 years old will have to have at least one parent or legal guardian sign the consents on their behalf) who are one of the following:
- Individuals with known mutations (gene changes) in the TP53 gene
- Individuals with 2 or more cancers diagnosed at a young age (before their 40th birthday) who may or may not have family history of cancer
- Individuals who are healthy and have not been diagnosed with cancer, but an immediate family member (blood relative) fits the above category (so called at-risk family members)
- Complete a family history questionnaire either by phone, in person or by mail
- Donate small blood sample (about 10 teaspoons) and
- Sign the appropriate informed consents and medical record authorization forms
Study participants will be contacted on average once every 1-3 years to update family history and contact details.
Individuals who are participants in our main study (above) may also be eligible to participate in the following optional studies:
- Transition to Research Disclosure (BS99-038) (add as title only so people can click on it and expand)
- Attitudes of families with Li-Fraumeni Syndrome towards genetic testing in children (BS99-038-optional survey) (add as title only so people can click on it and expand)
- To provide research families with comprehensive genetic services: education, counseling and the option of genetic testing and test disclosure
- To evaluate the study participants knowledge and impact of counseling and testing on their psychological adjustment to test results
- Individuals who are part of a family, where at least one family member has a verified TP53 mutation
- Patients and family members over 18 years of age
- Patients who may be at risk of carrying TP53 mutations because of personal and/or family cancer history, but have not as yet had TP53 mutation testing (for various reasons)
NOTE: Genetic testing (sequencing of exons 2-11) is performed free of charge in a research non-CLIA certified lab.
Genetic counseling is offered prior to research results are being ready (if participants sees genetic counselor at MD Anderson Cancer Center in a research setting service is free, but if participant sees genetic counselor at an outside institution patient may incur a cost). The participant can choose to either not receive or receive their research results.
Participants who have not had clinical genetic counseling complete a series of questionnaires over the phone, both before and after their results disclosure (if they choose to have their results) and sign appropriate informed consent forms. Participants who have had prior genetic counseling or decline the survey portion of the study can still consent to obtaining their research TP53 results only.
Attitudes of Families with Li-Fraumeni Syndrome Towards Genetic Testing in Children (BS99-038-optional survey)
- To learn how parents feel about TP53 genetic testing of their (at-risk) biological children and what challenges they may encounter while making these decisions
- Participants who have been identified to carry a TP53 gene mutation and have been disclosed with their results and
- Have a child/or are guardian of a child who is younger than 27 years old and is at risk of inheriting TP53 mutation
- Complete a three-part survey either by phone or mail and sign the appropriate informed consent