The Brazilian TP53 mutation (R337H) and sarcomas
نویسندگان
چکیده
منابع مشابه
The R337H mutation in TP53 and breast cancer in Brazil
BACKGROUND Germline mutations in p53 are associated with the Li-Fraumeni Syndrome which is characterized by childhood cancers, including pediatric adrenal cortical carcinomas and early onset breast cancer. The high incidence of adrenal cortical carcinomas in southern Brazil is mostly attributed to the R337H mutation in TP53. The relatively high population frequency of this mutation in southern ...
متن کاملSpecific TP53 mutation pattern in radiation-induced sarcomas.
The mutagenic properties of ionizing radiation are well known, but the presence of specific mutations in human radiation-induced tumours is not established. We have studied a series of 36 secondary sarcomas arising in the irradiation field of a primary tumour following radiotherapy. The allelic status and the presence of mutations of the TP53 gene were investigated. The mutation pattern was com...
متن کاملLETTER TO JMG Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation
B C Figueiredo, R Sandrini, G P Zambetti, R M Pereira, C Cheng, W Liu, L Lacerda, M A Pianovski, E Michalkiewicz, J Jenkins, C Rodriguez-Galindo, M J Mastellaro, S Vianna, F Watanabe, F Sandrini, S B I Arram, P Boffetta, R C Ribeiro . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
متن کاملIncreased Incidence of Choroid Plexus Carcinoma Due to the Germline TP53 R337H Mutation in Southern Brazil
BACKGROUND Choroid plexus carcinomas (CPC) are rare tumors predominantly found in children. Given the high frequency of the germline R337H mutation in the TP53 gene in southern Brazil, we have evaluated the frequency of the R337H mutation in families with CPC in children. METHODOLOGY/PRINCIPAL FINDINGS The present series included 29 patients that were admitted to the same institution from 199...
متن کاملPenetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.
BACKGROUND An inherited germline P53 mutation has been identified in cases of childhood adrenocortical carcinoma (ACT), a neoplasm with a high incidence in southern Brazil. The penetrance of ACT in carriers of the point mutation, which encodes an arginine-to-histidine substitution at codon 337 of TP53 (R337H), has not been determined. OBJECTIVE To investigate the penetrance of childhood ACT i...
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ژورنال
عنوان ژورنال: PLOS ONE
سال: 2020
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0227260