Transforming growth factorβ1 L10P variant plays an active role on the breast cancer susceptibility in Caucasian: evidence from 10,392 cases and 11,697 controls

Breast Cancer Res Treat. 2010 Nov;124(2):453-7. doi: 10.1007/s10549-010-0843-x. Epub 2010 Mar 27.


In view of the essential role of transforming growth factorβ1 (TGFB1) on both inhibiting the development of early benign breast tumors as well as promoting tumor invasion, the association of TGFB1 L10P polymorphism and breast cancer risk has been widely reported, but results of previous studies were somewhat contradictory and underpowered. To overcome the limitations of individual study and to understand the real situation, we conducted a systematic review and meta-analysis towards the association between TGFB1 L10P polymorphism and breast cancer. Through retrieving MEDLINE, PubMed, Embase, and Web of Science, a total of 16 studies with 10,392 cases and 11,697 controls were identified. The results showed that significant association was found in the recessive genetic model for Caucasian (OR = 1.152, 95% CI = 1.020-1.301). However, we did not find any associations in additive genetic model (PP vs. LL for total: OR = 1.026, 95% CI = 0.940-1.121), allele contrast (L vs. P for total: OR = 1.004, 95% CI = 0.966-1.044), and dominant genetic model (PP + LP vs. LL for total: OR = 1.001, 95% CI = 0.946-1.061). Conclusively, this meta-analysis strongly suggests that TGFB1 L10P polymorphism may play a low penetrance role in breast cancer susceptibility in Caucasian. Large well-designed epidemiological studies will be necessary to validate the risk identified in the current meta-analysis.

Publication types

  • Meta-Analysis
  • Review
  • Systematic Review

MeSH terms

  • Breast Neoplasms / ethnology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Case-Control Studies
  • European Continental Ancestry Group / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Neoplasm Invasiveness
  • Odds Ratio
  • Phenotype
  • Polymorphism, Genetic*
  • Risk Assessment
  • Risk Factors
  • Transforming Growth Factor beta1 / genetics*


  • TGFB1 protein, human
  • Transforming Growth Factor beta1