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| ID | Type | Description | Link |
|---|---|---|---|
| R01CA242218 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Cancer Institute (NCI) | NIH |
| City of Hope Medical Center | OTHER |
| Baylor College of Medicine | OTHER |
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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 research study looks to enroll as many people with LFS or TP53 gene variants as possible in order to:
Study procedures will include:
It is expected that about 1500 people will take part in this research study. Participants will be in this study until it closes or the participant withdraws consent.
The National Cancer Institute is providing funding for part of this study and is considered a study sponsor. They will require that some of the genetic information be made available to the research community without personal identifying information.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Variant in the TP53 Gene in blood or saliva | Variant in the TP53 gene found on a blood or saliva test, have a relative with a variant in the TP53 gene, or because participant meets genetic testing criteria for Li-Fraumeni Syndrome (LFS) based on personal or family cancer history |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Data and Specimen Collection | Genetic |
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| Measure | Description | Time Frame |
|---|---|---|
| Repository of specimens and data | Examine accuracy of family history and the extent to which families meet various published Li-Fraumeni family criteria or assess for de-novo mutations using descriptive statistics. Exact binomial confidence limits for percents will be calculated at 95% coverage. Tests of difference between >2 groups for binary variables will use the Fisher exact test. | 5 years or Study closure |
| Measure | Description | Time Frame |
|---|---|---|
| Estimation of Cancer Risks in TP53 mutation carriers | Estimate the frequency in ExAc as a population rate and calculate a standardized risk ratio as the ratio of the prevalence of mutations in a given cancer type compared to that in ExAc. P-values and 95% confidence intervals will be calculated assuming the observed number of mutations follows a Poisson distribution with mean equal to the expected value calculated from the ExAC observed frequency. |
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Inclusion Criteria:
Exclusion Criteria:
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Adults and children with a TP53 gene variant identified in blood or saliva
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Judy E Garber, MD, MPH | Contact | 617-632-5770 | jegarber@partners.org | |
| Sophie Cahill, BS | Contact | 617-632-4795 | Sophie_Cahill@DFCI.HARVARD.edu |
| Name | Affiliation | Role |
|---|---|---|
| Judy E Garber, MD, MPH | Dana-Farber Cancer Institute | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Boston Children's Hospital | Recruiting | Boston | Massachusetts | 02115 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 35352025 | Derived | de Andrade KC, Lee EE, Tookmanian EM, Kesserwan CA, Manfredi JJ, Hatton JN, Loukissas JK, Zavadil J, Zhou L, Olivier M, Frone MN, Shahzada O, Longabaugh WJR, Kratz CP, Malkin D, Hainaut P, Savage SA. The TP53 Database: transition from the International Agency for Research on Cancer to the US National Cancer Institute. Cell Death Differ. 2022 May;29(5):1071-1073. doi: 10.1038/s41418-022-00976-3. Epub 2022 Mar 29. No abstract available. |
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The Dana-Farber / Harvard Cancer Center encourages and supports the responsible and ethical sharing of data from clinical trials. De-identified participant data from the final research dataset used in the published manuscript may only be shared under the terms of a Data Use Agreement. Requests may be directed to Sponsor Investigator or designee]. The protocol and statistical analysis plan will be made available on Clinicaltrials.gov only as required by federal regulation or as a condition of awards and agreements supporting the research.
Data can be shared no earlier than 1 year following the date of publication
DFCI - Contact the Belfer Office for Dana-Farber Innovations (BODFI) at innovation@dfci.harvard.edu
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| ID | Term |
|---|---|
| D016864 | Li-Fraumeni Syndrome |
| D009386 | Neoplastic Syndromes, Hereditary |
| ID | Term |
|---|---|
| D009369 | Neoplasms |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D049914 | DNA Repair-Deficiency Disorders |
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| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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Salivary DNA, Hair Follicle Specimens, Tumor or normal Tissue Specimens, Other Specimens*
*Donation by participants of deceased family member's pathology specimen
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| 5 years or Study closure |
| Modified segregation analysis | For each dataset, the following analyses will be performed using MENDEL: a) the relative risk (RR) across age groups is assumed to be constant; b) the RR is assumed to be a continuous, piece wise linear function of age which was constant before age 40 years and after age 60 years, and linear between ages 40 and 60 years | 5 years or Study closure |
| Estimation of risk for the more commonly occurring cancers associated with inherited TP53 mutations | P-values and 95% confidence intervals will be calculated | 5 years or Study closure |
| Brigham and Women's Hospital | Recruiting | Boston | Massachusetts | 02215 | United States |
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| Judy E. Garber | Recruiting | Boston | Massachusetts | 02215 | United States |
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| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |