[Analysis of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives].
OBJECTIVE
To study the BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives.


METHODS
Genomic DNA from 41 patients' peripheral blood mononuclear cells was studied by using polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and DNA sequencing. BRCA1 mutations were detected in the whole gene sequence.


RESULTS
Disease-related BRCA1 mutations were detected in 3 of the 41 patients studied. Two of the 3 patients were younger than 35 years old, and one patient with family history.


CONCLUSIONS
The incidence of BRCA1 mutations in Chinese patients with early onset breast cancer is similar to that reported from western countries, but the incidence of mutations in Chinese breast cancer patients with affected relatives is comparatively low.
Hu
Zhen
Z
Department of Breast Surgery, Cancer Hospital/Institute, Fudan University, Shanghai 200032, China.
Wu
Jiong
J
Lu
Jin-song
JS
Luo
Jian-min
JM
Han
Qi-xia
QX
Shen
Zhen-zhou
ZZ
Shao
Zhi-min
ZM
D000328:Adult; D017668:Age of Onset; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000097:blood; D005091:Exons; D005260:Female; D019398:Genes, BRCA1; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000737:chemistry; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D019313:BRCA1 Protein; D004273:DNA, Neoplasm