Analysis of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China.
- Author:
Zhong-liang MA
1
;
Ming-zhi CAO
;
Wen-feng LI
Author Information
- Publication Type:Journal Article
- MeSH: Adult; BRCA2 Protein; genetics; Breast Neoplasms; genetics; China; Chromatography, High Pressure Liquid; Female; Humans; Mutation; Polymerase Chain Reaction
- From: Chinese Journal of Medical Genetics 2008;25(2):195-198
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the prevalence of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China.
METHODSFifty-two familial and/or early-onset breast cancer patients from unrelated family were analyzed. Genomic DNA was collected from the peripheral blood mononuclear cells, the coding sequences and exon-intron boundaries of BRCA2 gene were screened using denaturing high performance liquid chromatography (DHPLC), and the abnormal fragments were confirmed with direct DNA sequencing.
RESULTSThree mutations (5.8%) in BRCA2 gene were identified. They were 2001del TTAT, 4099C to T and 5873C to A. To our knowledge, all of them were firstly found in Chinese population. Furthermore, all the three mutations (12%) were identified in familial breast cancer patients, and none was in the early-onset patients.
CONCLUSIONBRCA2 may play an important role in the familial breast cancer in eastern Shandong Chinese population, but not in the early-onset breast cancer. It is necessary to give genetic test to familial breast cancer patients in this population.
