[BRCA1/2 gene mutation in Chinese familial breast cancer patients: a multi-center report of 115 cases].
OBJECTIVE
To study the BRCA1/2 gene mutation frequency and characteristics in Chinese familial breast cancer patients.


METHODS
Denaturing high-performance liquid chromatography (DHPLC) and following DNA sequencing in BRCA1/2 gene whole coding region and exon-intron splicing sites were performed in the specimens obtained during operation from 115 probands of familial breast cancer from 4 breast cancer centers in China.


RESULTS
Fourteen cases of gene mutation (11 in BRCA1 and 3 in BRCA2) were found in the 115 breast cancer specimens with an overall mutation rate of 12.2%. After stratification with number of breast cancer patients in family, the frequency of mutation did not change significantly. The average age of disease onset of the families carrying BRCA1/2 mutations was significantly younger than that of the families without mutations (P < 0.01), and the higher the number of young patients in family, the higher the mutation rate.


CONCLUSIONS
In Chinese familial breast cancer patients, age of disease-onset is an effective predictive factor of BRCA1/2 mutation, however, the predictive effect of the number of affective relatives in family is not good.
Hu
Zhen
Z
Breast Cancer Institute, Cancer Hospital/Cancer Institute, Fudan University, Shanghai 200032, 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
D017668:Age of Onset; D044466:Asian People / Q000235:genetics*; D001943:Breast Neoplasms / Q000208:ethnology* / Q000235:genetics*; D002681:China / Q000453:epidemiology; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D009154:Mutation