Lack of association between common single nucleotide polymorphisms in the TERT-CLPTM1L locus and breast cancer in women of African ancestry

Breast Cancer Res Treat. 2012 Feb;132(1):341-5. doi: 10.1007/s10549-011-1890-7. Epub 2011 Nov 29.


As one of the most common cancers worldwide, breast cancer places an extraordinary burden on the populations of African ancestry. Common SNPs in the TERT-CLPTM1L locus have been reported to be associated with several types of cancer, including breast cancer. We sought to investigate whether the previously reported common single nucleotide polymorphisms (SNPs) in the TERT-CLPTM1L locus could also contribute to the breast cancer risk in women of African ancestry. We genotyped eleven SNPs in 2,892 women of African descent but were unable to detect any significant association between TERT-CLPTM1L SNPs and their predispositions for breast cancer risk. Given the differences in linkage disequilibrium patterns across populations, our findings suggest that larger independent studies from diverse populations are expected to evaluate the importance of the TERT-CLPTM1L locus in breast cancer.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Black People
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Loci*
  • Genetic Predisposition to Disease
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Logistic Models
  • Membrane Proteins / genetics*
  • Middle Aged
  • Multivariate Analysis
  • Neoplasm Proteins / genetics*
  • Polymorphism, Single Nucleotide*
  • Sequence Analysis, DNA
  • Telomerase / genetics*


  • CLPTM1L protein, human
  • Membrane Proteins
  • Neoplasm Proteins
  • TERT protein, human
  • Telomerase