A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.
Title | A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. |
Publication Type | Journal Article |
Year of Publication | 2011 |
Authors | Haiman, C. A., Chen G. K., Vachon C. M., Canzian F., Dunning A., Millikan R. C., et al. |
Corporate Authors | Gene Environment Interaction and Breast Cancer in Germany(GENICA) Consortium |
Journal | Nat Genet |
Volume | 43 |
Issue | 12 |
Pagination | 1210-4 |
Date Published | 2011 Dec |
ISSN | 1546-1718 |
Keywords | African Americans, Aged, Breast Neoplasms, Case-Control Studies, European Continental Ancestry Group, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Membrane Proteins, Middle Aged, Neoplasm Proteins, Polymorphism, Single Nucleotide, Receptors, Estrogen, Telomerase |
Abstract | Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry compared to women of European ancestry. In search of common risk alleles for ER-negative breast cancer, we combined genome-wide association study (GWAS) data from women of African ancestry (1,004 ER-negative cases and 2,745 controls) and European ancestry (1,718 ER-negative cases and 3,670 controls), with replication testing conducted in an additional 2,292 ER-negative cases and 16,901 controls of European ancestry. We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 × 10(-10)). The variant was also significantly associated with triple-negative (ER-negative, progesterone receptor (PR)-negative and human epidermal growth factor-2 (HER2)-negative) breast cancer (OR = 1.25, P = 1.1 × 10(-9)), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 × 10(-9)). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations. |
DOI | 10.1038/ng.985 |
Alternate Journal | Nat. Genet. |
PubMed ID | 22037553 |
PubMed Central ID | PMC3279120 |
Grant List | 090532 / / Wellcome Trust / United Kingdom 10118 / / Cancer Research UK / United Kingdom 11022 / / Cancer Research UK / United Kingdom CA122340 / CA / NCI NIH HHS / United States CA128978 / CA / NCI NIH HHS / United States CA148065 / CA / NCI NIH HHS / United States P30 CA016086 / CA / NCI NIH HHS / United States P30 ES010126 / ES / NIEHS NIH HHS / United States R01 CA092447 / CA / NCI NIH HHS / United States R01 CA122340 / CA / NCI NIH HHS / United States R01 CA122340-04 / CA / NCI NIH HHS / United States R01 CA128978 / CA / NCI NIH HHS / United States R01 CA128978-04 / CA / NCI NIH HHS / United States R25 CA092049 / CA / NCI NIH HHS / United States U19 CA148065 / CA / NCI NIH HHS / United States U19 CA148065-02 / CA / NCI NIH HHS / United States |