[Analysis of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China].
OBJECTIVE
To investigate the prevalence of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China.


METHODS
Fifty-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.


RESULTS
Three 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.


CONCLUSIONS
BRCA2 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.
Ma
Zhong-liang
ZL
Center for Breast Diseases, the Affiliated Hospital, Qingdao University Medical School, Qingdao, Shandong, 266004 P. R. China.
Cao
Ming-zhi
MZ
Li
Wen-feng
WF
D000328:Adult; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D002681:China; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction
D024682:BRCA2 Protein