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Mutation Analysis in the BRCA1 Gene in Chinese Breast Cancer Families

查看全文 作  者:WUZhengyan ZHENLinlin [1]FANPing 高影响力作者 机构地区:[1]DepartmentofGeneralSurgery,theFirstAffiliatedHospitalofNanjingMedicalUniversityNanjing210029,China高影响力机构 出  处:《The Chinese-German Journal of Clinical Oncology》索引2003年第2卷第3期,共5页高影响力期刊 摘  要:Objective: To study the mutation of BRCA1 gene in Chinese breast cancer families. Methods:Fifteen families were selected, involving 41 members, consisting of 23 breast cancer patients. Using poly-merase chain reaction and single stranded conformation polymorphism (PCR-SSCP), and subsequent DNA sequencing, the mutation of BRCA1 genes were analyzed. Results: Four mutations were found in all fam-ilies, and the proportion of mutation was 26.7% (4/15) in breast cancer families. One of the 4 mutations was 2228 insC, resulting in chain termination at codon 711. The remaining 3 mutations were 1884A→T and 3232A→G, resulting in single amino acid change respectively. Conclusion: BRCA1 is a breast cancer susceptibility gene. The relatively low proportion and frequency of BRCA1 mutations in our study hints additional BRCA genes existed. 关 键 词:BRCA1基因 乳腺癌 基因突变 家系分析
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