The Brazilian Founder Mutation TP53 p.R337H is Uncommon in Portuguese Women Diagnosed with Breast Cancer

• Tipo: Artigo em Revista Científica Internacional
• Data: 2014

Autores

Giacomazzi, J (Autor) Outra; Correia, RL (Autor) Outra; Palmero, EI (Autor) Outra; Gaspar, JF (Autor) Outra; Almeida, M (Autor) Outra; Portela, C (Autor) Outra; Camey, SA (Autor) Outra; Monteiro, A (Autor) Outra; Pinheiro, M (Autor) Outra; Peixoto, A (Autor) Outra; Manuel R Teixeira (Autor) ICBAS; Reis, RM (Autor) Outra; Ashton Prolla, P (Autor) Outra

Revista

Título: Breast Journal

Vol. 20

Páginas: 534-536

ISSN: 1075-122X

Editora: Wiley-Blackwell

Indexação

ISI Web of Knowledge - 5 Citações

Scopus - 5 Citações

Outras Informações

ID Authenticus: P-009-WBS

DOI: 10.1111/tbj.12308

Abstract (EN): Since the first studies reporting the TP53 p.R337H mutation as founder mutation in Southern and Southeastern Brazil, there has been controversy on its origin. Preliminary analysis of a small subset of Brazilian mutation carriers revealed that the haplotype incided on a Caucasian background. The vast majority of carriers identified today reside in Brazil or, if identified in other countries, are Brazilian immigrants. To our knowledge, the only two exceptions of carriers without a recognizable link with Brazil are two European families, from Portugal and Germany. Haplotype analysis in the Portuguese family revealed the same haplotype identified in Brazilian individuals, but in the German family, a distinct haplotype was found. Knowing that a significant proportion of women with breast cancer (BC) in Southern Brazil are p.R337H carriers, we analyzed p.R337H in a Portuguese cohort of women diagnosed with this disease. Median age at diagnosis among the first 573 patients tested was 60years and 100 (17.4%) patients had been diagnosed at or under the age of 45years. Mutation screening failed to identify the mutation in the 573 patients tested. These results are in contrast with the mutation frequency observed in a study including 815 BC-affected women from Brazil, in which carrier frequencies of 12.1 and 5.1% in pre- and postmenopausal women were observed, respectively. These findings suggest that the Brazilian founder mutation p.R337H, the most frequent germline TP53 mutation reported to date, is not a common germline alteration in Portuguese women diagnosed with BC.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 3