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The analysis ofBRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives

2003; Wiley; Volume: 22; Issue: 1 Linguagem: Inglês

10.1002/humu.9156

1098-1004

Zhen Hu, Jiong Wu, Can-Hui Liu, Jing-Song Lu, Jian-Ming Luo, Qi-Xia Han, Zhen‐Zhou Shen, Zhi‐Ming Shao,

Genomic variations and chromosomal abnormalities

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. © 2003 Wiley-Liss, Inc.