A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.
;
Paul DPPharoah;
Loreall CPooler;
Michael FPress;
KatriPylkäs;
Timothy RRebbeck;
Jorge LRodriguez-Gil;
LynnRosenberg;
EricRoss;
ThomasRüdiger;
Isabel dos SantosSilva;
ElinorSawyer;
Marjanka KSchmidt;
RüdigerSchulz-Wendtland;
FredrickSchumacher;
GianlucaSeveri;
XinSheng;
Lisa BSignorello;
Hans-PeterSinn;
Kristen NStevens;
Melissa CSouthey;
William JTapper;
IanTomlinson;
Frans BLHogervorst;
ElsWauters;
JoEllenWeaver;
HansWildiers;
RobertWinqvist;
DavidVan Den Berg;
PeggyWan;
Lucy YXia;
DrakoulisYannoukakos;
WeiZheng;
Regina GZiegler;
AfshanSiddiq;
Susan LSlager;
Daniel OStram;
DouglasEaston;
PeterKraft;
Brian EHenderson;
Fergus JCouch;
(2011)
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.
Nature genetics, 43 (12).
pp. 1210-1214.
ISSN 1061-4036
DOI: 10.1038/ng.985
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.
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- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3279120 (OA Location)
- 10.1038/ng.985 (DOI)
- 22037553 (PubMed)