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Title: A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.
Authors: Haiman CA,  Chen GK,  Vachon CM,  Canzian F,  Dunning A,  Millikan RC,  Wang X,  Ademuyiwa F,  Ahmed S,  Ambrosone CB,  Baglietto L,  Balleine R,  Bandera EV,  Beckmann MW,  Berg CD,  Bernstein L,  Blomqvist C,  Blot WJ,  Brauch H,  Buring JE,  Carey LA,  Carpenter JE,  Chang-Claude J,  Chanock SJ,  Chasman DI,  Clarke CL,  Cox A,  Cross SS,  Deming SL,  Diasio RB,  Dimopoulos AM,  Driver WR,  Dünnebier T,  Durcan L,  Eccles D,  Edlund CK,  Ekici AB,  Fasching PA,  Feigelson HS,  Flesch-Janys D,  Fostira F,  Försti A,  Fountzilas G,  Gerty SM,  Gene Environment Interaction and Breast Cancer in Germany (GENICA) Consortium,  Giles GG,  Godwin AK,  Goodfellow P,  Graham N,  Greco D,  Hamann U,  Hankinson SE,  Hartmann A,  Hein R,  Heinz J,  Holbrook A,  Hoover RN,  Hu JJ,  Hunter DJ,  Ingles SA,  Irwanto A,  Ivanovich J,  John EM,  Johnson N,  Jukkola-Vuorinen A,  Kaaks R,  Ko YD,  Kolonel LN,  Konstantopoulou I,  Kosma VM,  Kulkarni S,  Lambrechts D,  Lee AM,  Marchand LL,  Lesnick T,  Liu J,  Lindstrom S,  Mannermaa A,  Margolin S,  Martin NG,  Miron P,  Montgomery GW,  Nevanlinna H,  Nickels S,  Nyante S,  Olswold C,  Palmer J,  Pathak H,  Pectasides D,  Perou CM,  Peto J,  Pharoah PD,  Pooler LC,  Press MF,  Pylkäs K,  Rebbeck TR,  Rodriguez-Gil JL,  Rosenberg L,  Ross E,  Rüdiger T,  Silva Idos S,  Sawyer E,  Schmidt MK,  Schulz-Wendtland R,  Schumacher F,  Severi G,  Sheng X,  Signorello LB,  Sinn HP,  Stevens KN,  Southey MC,  Tapper WJ,  Tomlinson I,  Hogervorst FB,  Wauters E,  Weaver J,  Wildiers H,  Winqvist R,  Van Den Berg D,  Wan P,  Xia LY,  Yannoukakos D,  Zheng W,  Ziegler RG,  Siddiq A,  Slager SL,  Stram DO,  Easton D,  Kraft P,  Henderson BE,  Couch FJ
Journal: Nat Genet
Date: 2011 Dec
Branches: CGR, EBP, HREB, LTG
PubMed ID: 22037553
PMC ID: PMC3279120
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.