RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer

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• 作者：Min He (12)
  Gen-Hong Di (12)
  A-Yong Cao (12)
  Zhen Hu (12)
  Wei Jin (12)
  Zhen-Zhou Shen (12)
  Zhi-Ming Shao (12) zhimingshao@yahoo.com
• 关键词：Hereditary breast cancer – ; RAD50 – ; NBS1 – ; Germline mutation
• 刊名：Breast Cancer Research and Treatment
• 出版年：2012
• 出版时间：May 2012
• 年：2012
• 卷：133
• 期：1
• 页码：111-116
• 全文大小：179.5 KB
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• 作者单位：1. Breast Cancer Institute, Cancer Hospital/Cancer Institute, Shanghai Medical College, Institutes of Biomedical Science, Fudan University, 270 Dong鈥檃n Road, Shanghai, 200032 People鈥檚 Republic of China2. Department of Oncology, Shanghai Medical College, Institutes of Biomedical Science, Fudan University, Shanghai, People鈥檚 Republic of China
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Oncology
  
• 出版者：Springer Netherlands
• ISSN：1573-7217

文摘

Deleterious mutations in several genes that are involved in repair of damage to DNA have been associated with an increased risk of breast cancer. Recent studies have shown sequence variants in two such genes, RAD50 and NBS1, which can be predisposed to breast cancer. The aim of this study is to elucidate the contribution of RAD50 and NBS1 germline mutations to the etiology of non-BRCA1/2 hereditary breast cancer in China. We conducted a mutational analysis of RAD50 and NBS1 in genomic DNA from 384 Chinese women with early-onset breast cancer and/or affected relatives. All the coding exons and adjacent intronic splice junction rejoins of RAD50 and NBS1 were screened using PCR-DHPLC and DNA sequencing analysis. Among all cases, no obviously deleterious mutations were observed in RAD50; one synonymous change c.102G>A at codon 34 and one single nucleotide polymorphism IVS9 + 19C>T were identified in NBS1. Furthermore, there was no remarkable difference in the allele frequency of NBS1 c.553G>C (E185Q) between cases (172/384) and controls (182/420). Our results exclude the possible role of RAD50 and NBS1 in familial breast cancer predisposition in Chinese women, and there is no evidence for the recommendation of RAD50 and NBS1 for genetic testing in China.