Prevalence of the Brazilian founder mutation TP53 p.Arg337His in sarcomas treated at Hospital de Câncer de Barretos.

Abstract

Sarcomas are mesenchymal neoplasms that may affect any part of the body, as well as appear at any age. Regarding pediatric tumors, sarcomas usually ranks third in incidence, behind the hematopoietic neoplasms and tumors of the central nervous system. In adulthood, sarcomas account for about 1% of malignancies. However, as the cancer is more common in adulthood than in childhood, the absolute number of sarcomas ends up being greater in the latter age group. The sarcoma is part of the tumor spectrum of a cancer predisposition syndrome called Li Fraumeni syndrome, where 70-83% of patients have germline mutations in the TP53 gene. In Brazil, there is a specific mutation in the TP53 gene, the mutation p.Arg337His, that occurs at a very high frequency when compared to other TP53 germline mutations. Studies conducted in southern Brazil (Paraná and Rio Grande do Sul), showed a 0.3% prevalence of this mutation in the general population. Thus, this study intends to evaluate, retrospectively, in a group of 350 patients treated at the Hospital de Câncer de Barretos, in the period between 2007 and 2012, the presence and frequency of the TP53 p.Arg337His mutation. Besides, we intend to correlate the molecular profile of those patients with the histopathological and clinical data, as well as with family history characteristics and prognosis. Clinical information, family history and survival data will be obtained from clinical chart review. Analysis of the presence of the mutation p.Arg337His will be done by PCR-RFLP. We hope this work will be a first step towards a better characterization and consequently a greater knowledge about the population diagnosed with sarcoma treated at the Cancer Hospital of Barretos as well as regarding the real frequency of this founder mutation on the sarcoma affected patients.