Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome.

ABSTRACT:

Importance

Li Fraumeni syndrome (LFS) is associated with a wide variety of tumors; nevertheless, thyroid carcinoma has not been evaluated in this syndrome. Due to the Brazilian founder mutation p.R337H, some tumors that have not been described in the classic LFS have been observed in a higher-than-expected prevalence in Brazil.

Objective

To determine the frequency of thyroid carcinoma in Brazilian carriers of a founder TP53 p.R337H mutation.

Design, setting, and participants

We reviewed medical records of patients with LFS with germline TP53 p.R337H mutation. For a better understanding of the correlation between thyroid carcinoma and LFS, tumor profile data of Brazilian carriers were analyzed. We included data from 193 patients with LFS with the TP53 p.R337H mutation

SUBMITTER: Formiga MNDC 

PROVIDER: S-EPMC5824314 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature