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A.C. Antoniou (Antonis),
G. Chenevix-Trench (Georgia),
A.M. Dunning (Alison)
and
G. Yang (Gong)
2013-04-01
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Publication
Publication
Nature Genetics , Volume 45 - Issue 4 p. 371- 384
TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10−7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10−8) and BRCA1 mutation carrier (P = 1.1 × 10−5) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 × 10−14), higher risk of low-malignant-potential ovarian cancer (P = 1.3 × 10−15) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 × 10−12) and BRCA1 mutation carrier (P = 1.6 × 10−14) breast and invasive ovarian (P = 1.3 × 10−11) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.
| Additional Metadata | |
|---|---|
| Keywords | Breast cancer, Cancer genetics, Genetic association study, Ovarian cancer |
| Persistent URL | doi.org/10.1038/ng.2566, hdl.handle.net/1765/58862 |
| Journal | Nature Genetics |
| Organisation | Department of Clinical Genetics |
| Citation |
Bojesen, S., Pooley, K., Johnatty, S., Beesley, J., Michailidou, K., Tyrer, J., … G. Yang (Gong). (2013). Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nature Genetics, 45(4), 371–384. doi:10.1038/ng.2566 |