[Study of BRCA1 and BRCA2 gene mutations in human sporadic breast cancers].
OBJECTIVE
To detect the mutations of BRCA1 and BRCA2 in sporadic breast cancer and study the relationship between BRCA1 and BRCA2 mutations and breast cancer.


METHODS
Breast cancer tissues of 144 patients and breast tissues of 30 cases of healthy people who were treated from December 2000 to September 2005 were studied. DNA was extracted by the phenol-chloroform method. Fragments of exon 2, exon 3, exon 5, exon 6, exon 7, exon 8, exon 9, exon 10, exon 11, exon 12, exon 13, exon 14, exon 15, exon 16, exon 17, exon 18, exon 19, exon 20, exon 21, exon 22, exon 23 and exon 24 in the BRCA1 gene and exon 10 and exon 14 in the BRCA2 gene were amplified by polymerase chain reaction. Mutation screening was performed by single-strand conformation polymorphism analysis and alterations were confirmed by DNA sequencing.


RESULTS
A total of 20 single nucleotide changes in BRCA1 were detected in the 144 cases of breast cancer patients. The total mutation rate was 13.9% and missense mutation rate was 11.1%. No mutation was detected in the BRCA2 and controls.


CONCLUSIONS
Mutations in BRCA1 may play an important role in evaluation of sick risk, earlier diagnosis and gene therapy of breast cancer in southern Chinese populations.
Department of Gastrointestinal and Glands Surgery, the First Affiliated Hospital, Guangxi Medical University, Nanning 530021, China.
Hai-Tian
HT
Zhang
Yun-Fei
YF
Lu
Jian
J
Zeng
Jian
J
Lin
Qing-Hua
QH
Liao
Fu-Qiang
FQ
Wan
D000328:Adult; D000368:Aged; D051017:Apoptosis Regulatory Proteins; D019313:BRCA1 Protein / Q000235:genetics* / Q000378:metabolism; D024682:BRCA2 Protein / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D015153:Blotting, Western; D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D051017:Apoptosis Regulatory Proteins; C118024:BLID protein, human; D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human