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
Dans Chinois
| WPRIM
| ID: wpr-815064
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Tumeurs du sein
/
Analyse de mutations d'ADN
/
Protéines nucléaires
/
Chine
/
Protéines du cycle cellulaire
/
Asiatiques
/
Phosphohydrolase PTEN
/
Génétique
/
Mutation
Type d'étude:
Étude pronostique
Limites du sujet:
Adulte
/
Femelle
/
Humains
Pays comme sujet:
Asie
langue:
Chinois
Texte intégral:
Journal of Central South University(Medical Sciences)
Année:
2016
Type:
Article
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