Breast Cancer Research and Treatment

, Volume 114, Issue 3, pp 457–462 | Cite as

The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives

  • A-Yong Cao
  • Juan Huang
  • Zhen Hu
  • Wen-Feng Li
  • Zhong-Liang Ma
  • Li-Li Tang
  • Bin Zhang
  • Feng-Xi Su
  • Jie Zhou
  • Gen-Hong Di
  • Kun-Wei Shen
  • Jiong Wu
  • Jin-Song Lu
  • Jian-Min Luo
  • Wen-Tao Yuan
  • Zhen-Zhou Shen
  • Wei Huang
  • Zhi-Ming Shao
Preclinical Study

Abstract

PALB2 has been recently identified as breast cancer susceptibility gene in western populations. To investigate the contribution of PALB2 mutations to Chinese non-BRCA1/BRCA2 hereditary breast cancer, we screened all coding exons and intron-exon boundaries of PALB2 in 360 Chinese women with early-onset breast cancer or affected relatives from five breast disease clinical centers in China by utilizing PCR-DHPLC and DNA sequencing analysis. Some genetic variants identified in the cases were then studied in 864 normal controls with no personal or family history of breast cancer. Two protein-truncating PALB2 mutations, 751C>T and 1050_1051delAAinsTCT, were identified in three separate families, and 751C>T was a recurrent mutation. Neither of them, however, were present in the controls (P = 0.025). All the truncating mutations occured in exon 4 of PALB2, and there were still three unclassified variants were detected in the same fragment. We found that exon 4 accounted for 44.1% (15/34) of the person-times carrying with any variant in our study. PALB2 mutations were responsible for approximately 1% of Chinese women with early-onset breast cancer and affected relatives. Our results suggested that a detection of exon 4 before the assay of the whole PALB2 gene might be a cost-effective approach to the screening of Chinese population.

Keywords

Breast cancer PALB2 Sequence variation DHPLC Chinese 

Notes

Acknowledgments

The authors thank the family members for their willingness to cooperate with our study. This research was supported in part by the grants from the National Basic Research Program of China (2006CB910501), National Natural Science Foundation of China (30371580, 30572109); Shanghai Science and Technology Committee (03J14019, 06DJ14004, 06DZ19504)

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Copyright information

© Springer Science+Business Media, LLC. 2008

Authors and Affiliations

  • A-Yong Cao
    • 1
  • Juan Huang
    • 2
  • Zhen Hu
    • 1
  • Wen-Feng Li
    • 1
  • Zhong-Liang Ma
    • 3
  • Li-Li Tang
    • 2
  • Bin Zhang
    • 4
  • Feng-Xi Su
    • 5
  • Jie Zhou
    • 5
  • Gen-Hong Di
    • 1
  • Kun-Wei Shen
    • 1
  • Jiong Wu
    • 1
  • Jin-Song Lu
    • 1
  • Jian-Min Luo
    • 1
  • Wen-Tao Yuan
    • 6
  • Zhen-Zhou Shen
    • 1
  • Wei Huang
    • 6
  • Zhi-Ming Shao
    • 1
  1. 1.Breast Cancer Institute, Cancer Hospital/Cancer Institute, Department of Oncology, Shanghai Medical CollegeFudan UniversityShanghaiPeople’s Republic of China
  2. 2.Department of Breast, Xiangya HospitalCentral South UniversityChangshaPeople’s Republic of China
  3. 3.Department of SurgeryThe Affiliated Hospital of Qingdao University Medical CollegeQingdaoPeople’s Republic of China
  4. 4.Department of Breast DiseaseLiaoning Cancer Hospital & InstituteShenyangPeople’s Republic of China
  5. 5.Department of Breast SurgerySecond Affiliated Hospital of Zhongshan UniversityGuangzhouPeople’s Republic of China
  6. 6.Chinese National Human Genome Center at ShanghaiShanghaiPeople’s Republic of China

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