[5589del8: the recurrent mutation of BRCA1 gene in Chinese breast cancer patients].
OBJECTIVE
To study the "hot spot" of BRCA1/2 gene mutations in Chinese mainland breast cancer population.


METHODS
The 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.


RESULTS
Three 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.


CONCLUSIONS
BRCA1 5589del8 mutation is likely to be the "founder mutation" in Chinese population, but it should be confirmed by further studies.
Hu
Zhen
Z
Breast Cancer Institute, Cancer Hospital/Cancer Institute, Fudan University, Shanghai, 200032 P. R. China.
Li
Wen-feng
WF
Liu
Xiao-yi
XY
Zhang
Bin
B
Cao
Ming-zhi
MZ
Wang
Yong-sheng
YS
Zhao
Lin
L
Song
Chuan-gui
CG
Lu
Jin-song
JS
Wu
Jiong
J
Di
Gen-hong
GH
Shen
Kun-wei
KW
Han
Qi-xia
QX
Shen
Zhen-zhou
ZZ
Huang
Wei
W
Shao
Zhi-min
ZM
D000328:Adult; D044466:Asian People / Q000235:genetics; D019313:BRCA1 Protein / Q000235:genetics*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics*; D002681:China; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009154:Mutation
D019313:BRCA1 Protein; C492913:BRCA1 protein, human