PTEN and NBS1 gene mutations in familial breast cancer and early-onset breast cancer from Hunan Province in China.
10.11817/j.issn.1672-7347.2016.02.002
- Author:
Yuhui WU
1
;
Bingjian JIANG
1
;
Xu DAI
1
;
Xueli HU
1
;
Shouman WANG
1
;
Pinglan JIANG
1
;
Yuanping HU
1
;
Jun HUANG
1
Author Information
1. Department of Breast Surgery, Xiangya Hospital, Central South University, Changsha 410008, China.
- Publication Type:Journal Article
- MeSH:
Adult;
Asian Continental Ancestry Group;
Breast Neoplasms;
genetics;
Cell Cycle Proteins;
genetics;
China;
DNA Mutational Analysis;
Female;
Humans;
Mutation;
Nuclear Proteins;
genetics;
PTEN Phosphohydrolase;
genetics
- From:
Journal of Central South University(Medical Sciences)
2016;41(2):121-126
- CountryChina
- Language:Chinese
-
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.
