5589del8: the recurrent mutation of BRCA1 gene in Chinese breast cancer patients.
- Author:
Zhen HU
1
;
Wen-feng LI
;
Xiao-yi LIU
;
Bin ZHANG
;
Ming-zhi CAO
;
Yong-sheng WANG
;
Lin ZHAO
;
Chuan-gui SONG
;
Jin-song LU
;
Jiong WU
;
Gen-hong DI
;
Kun-wei SHEN
;
Qi-xia HAN
;
Zhen-zhou SHEN
;
Wei HUANG
;
Zhi-min SHAO
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; BRCA1 Protein; genetics; Base Sequence; Breast Neoplasms; ethnology; genetics; China; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; genetics; Humans; Mutation
- From: Chinese Journal of Medical Genetics 2007;24(4):378-381
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the "hot spot" of BRCA1/2 gene mutations in Chinese mainland breast cancer population.
METHODSThe known BRCA1/2 gene mutations in author's previous studies were reanalyzed by denaturing high performance liquid chromatography and DNA sequencing method in 177 patients with early onset breast cancer or affected relatives and 426 sporadic breast cancer patients from four breast cancer centers in China.
RESULTSThree cases were found with BRCA1 5589del8 mutation out of 247 hereditary-predisposing breast cancer patients (70 patients in previous study and 177 patients in current study) and 2 cases with BRCA1 5589del8 mutation out of 426 sporadic breast cancer patients. They had similar even same haplotype.
CONCLUSIONBRCA1 5589del8 mutation is likely to be the "founder mutation" in Chinese population, but it should be confirmed by further studies.
