title: The analysis of BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives.
abstract: To study the BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives, 41 patients' genomic DNA from peripheral mononuclear blood cells was studied by using single strand conformational polymorphism (SSCP) and DNA sequencing. The BRCA1 mutations were detected in the whole gene sequence. Three novel disease-causing mutations (c.582C>T, c.735C>T and c.2790delT) occurred in all the patients. Two occurred in the patients younger than 35 years old (9.1%) and one in the patients with affected relatives (5%). Additional sequence variants identified included a novel missense mutation of unknown significance and six polymorphisms. The prevalence of BRCA1 mutations in Chinese patients in Shanghai with early onset breast cancer is similar to that observed in western women, but the incidence of mutations in breast cancer patients in Shanghai with affected relatives isn't as high as that in western women.
authors.affiliation: Breast Cancer Institute, Cancer Hospital/Cancer Institute, Fudan University, Shanghai, 200032, PR China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Hu
authors.forename: Jiong
authors.initials: J
authors.lastname: Wu
authors.forename: Can-Hui
authors.initials: CH
authors.lastname: Liu
authors.forename: Jing-Song
authors.initials: JS
authors.lastname: Lu
authors.forename: Jian-Ming
authors.initials: JM
authors.lastname: Luo
authors.forename: Qi-Xia
authors.initials: QX
authors.lastname: Han
authors.forename: Zhen-Zhou
authors.initials: ZZ
authors.lastname: Shen
authors.forename: Zhi-Ming
authors.initials: ZM
authors.lastname: Shao
mesh_terms: D000328:Adult; D017668:Age of Onset; D019313:BRCA1 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis / Q000379:methods; D004273:DNA, Neoplasm / Q000097:blood; D005260:Female; D019398:Genes, BRCA1; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000737:chemistry; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D019313:BRCA1 Protein; D004273:DNA, Neoplasm