ZIA CP010144 10769 (ZIA) | |||
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Title | Li-Fraumeni Syndrome in Brazil | ||
Institution | NCI, Bethesda, MD | ||
Principal Investigator | Achatz, Maria Isabel | NCI Program Director | N/A |
Cancer Activity | N/A | Division | DCEG |
Funded Amount | $53,072 | Project Dates | null - null |
Fiscal Year | 2018 | Project Type | Intramural |
Research Topics w/ Percent Relevance | Cancer Types w/ Percent Relevance | ||
Biochemical Epidemiology (45.0%) Cancer (100.0%) Childhood Cancers (20.0%) |
Breast (50.0%) Central Nervous System - Not Including Brain (10.0%) Sarcoma (30.0%) |
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Research Type | |||
Cancer Initiation: Oncogenes & Tumor Suppressor Genes Surveillance |
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Abstract | |||
Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome associated with germline TP53 mutations. Carriers are at high risk of developing multiple cancers, both in children and in young adults. In Brazil, there is a high prevalence of LFS due to a founder effect. A germline arginine-to-histidine substitution at codon 337 (NC_000017.9: c.1010G>A; p.R337H) is present in 0.3% in the South/Southeastern Brazilian regions. The A.C.Camargo Cancer Center has joined efforts to bring together the largest cohort of Li-Fraumeni patients in Brazil, including more than 750 patients who received TP53 germline mutation testing on research protocols, coming from all different states of the country. Among these, 261 patients were detected with a pathogenic germline mutation. Genetic counseling has been offered to all participants. At present, a cohort of 70 TP53 germline mutation carriers have been followed over a period of four years. All patients received a yearly follow-up at the Department of Oncogenetics, where they have continuous genetic counseling and provide all information on the exams performed according to the Toronto protocol to the database. This cohort has been followed in accordance to the NIH LFS screening protocol as well as several international efforts on screening in LFS patients. Considering the unique setting and high frequency of LFS patients with p.R337H carriers in Brazil, it is important to keep the Brazillian LFS Database updated in order to provide adequate information for clinical, epidemiological and molecular studies in the Brazilian population. An accurate registry maintained by a professional who is able to update and register information is fundamental for a long-term follow-up of these patients. The aims of this study are: (1)to maintain and update the Brazilian LFS database; (2)to provide data to evaluate the efficacy of screening strategies in Brazilian LFS patients. |