PTEN and NBS1 gene mutations in familial breast cancer and early-onset breast cancer from Hunan Province in China / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
; (12): 121-126, 2016.
Article
em Zh
| WPRIM
| ID: wpr-815064
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To investigate the profile and potential significance of PTEN and NBS1 mutations among patients with familial or at early onset breast cancer in Hunan province.
@*METHODS@#A total of 131 breast cancer patients with familial history or suffered from breast cancer at the age of less than 35 years old were included in this study. A comprehensive phosphatase and tensin homolog (PTEN) and nibrin (NBS1) mutation analysis was performed through denaturing high performance liquid chromatography (DHPLC) and subsequent DNA direct sequencing.
@*RESULTS@#Among 131 patients, a reported mutation IVS4+109insTCTTA in PTEN gene were identified in two patients. The mutation frequency of IVS4+109insTCTTA was 1.15%. Two mutations in PTEN gene, 225 A>C (Thr 160 Pro) and IVS5+13T>C, was firstly discovered. Another reported missense mutation was rs121909229 G>A (Arg 130 Gln). Three mutations were detected in NBS1 gene, of which IVS6+43A>G and IVS6+127A>G were firstly discovered and another reported synonymous mutations was rs1805794 G>C (Glu 185 Gln).
@*CONCLUSION@#The novel mutations in PTEN and NBS1 might be specific to the familial and early-onset breast cancer of Chinese Hunan population.
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Índice:
WPRIM
Assunto principal:
Neoplasias da Mama
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Análise Mutacional de DNA
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Proteínas Nucleares
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China
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Proteínas de Ciclo Celular
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Povo Asiático
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PTEN Fosfo-Hidrolase
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Genética
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Female
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Humans
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Journal of Central South University(Medical Sciences)
Ano de publicação:
2016
Tipo de documento:
Article