[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.
Breast Cancer Institute, Cancer Hospital/Cancer Institute, Fudan University, Shanghai, 200032 P. R. China.
Zhen
Z
Hu
Wen-feng
WF
Li
Xiao-yi
XY
Liu
Bin
B
Zhang
Ming-zhi
MZ
Cao
Yong-sheng
YS
Wang
Lin
L
Zhao
Chuan-gui
CG
Song
Jin-song
JS
Lu
Jiong
J
Wu
Gen-hong
GH
Di
Kun-wei
KW
Shen
Qi-xia
QX
Han
Zhen-zhou
ZZ
Shen
Wei
W
Huang
Zhi-min
ZM
Shao
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