Germline mutations of TP53 gene among Chinese families with high risk for breast cancer / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 761-765, 2015.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-287994
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To evaluate the role of germline mutations of TP53 gene among a Chinese population with high risk for breast cancer.</p><p><b>METHODS</b>A total of 81 BRCA-negative breast cancer probands from cancer families were analyzed using targeted capture and next-generation sequencing. Candidate mutations were verified with Sanger sequencing. Co-segregation analyses were carried out to explore the likely pathogenicity of the mutation.</p><p><b>RESULTS</b>Of the 81 BRCA-negative patients, 3 exonic mutations in the TP53 gene were identified in 3 breast cancer patients. Of these, 2 mutations were previously reported and 1 was novel. One family with TP53 mutation has met the criteria for Li-Fraumeni syndrome (LFS) and accounted for 9.1% of all families who fulfilled the diagnostic criteria for LFS. Two of the carriers were diagnosed with breast cancer under the age of 30, and have accounted for 11.8% (2/17) of all very young (≤30 years) breast cancer patients in our study.</p><p><b>CONCLUSION</b>The TP53 germline mutation is more common in Chinese population with a high risk for breast cancer than previously thought. TP53 gene mutation screening should be considered particularly for patients with a family history of LFS and very young age of onset.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Neoplasias da Mama
/
Análise Mutacional de DNA
/
Sequência de Bases
/
China
/
Éxons
/
Saúde da Família
/
Fatores de Risco
/
Proteína Supressora de Tumor p53
/
Síndrome de Li-Fraumeni
Tipo de estudo:
Estudo de etiologia
/
Estudo prognóstico
/
Fatores de risco
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Artigo