Ερευνητικό υλικό ΕΚΠΑ

A common variant at the TERT-CLPTM1L locus is associated with estrogen
receptor-negative breast cancer

Αγγλικά

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 x
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 x 10(-9)), particularly in younger women (<50 years of
age) (OR = 1.48, P = 1.9 x 10(-9)). Our results identify a genetic locus
associated with estrogen receptor negative breast cancer subtypes in
multiple populations.

2011

Haiman, Christopher A.
Chen, Gary K.
Vachon, Celine M. and
Canzian, Federico
Dunning, Alison
Millikan, Robert C.
Wang,
Xianshu
Ademuyiwa, Foluso
Ahmed, Shahana
Ambrosone,
Christine B.
Baglietto, Laura
Balleine, Rosemary
Bandera,
Elisa V.
Beckmann, Matthias W.
Berg, Christine D.
Bernstein,
Leslie
Blomqvist, Carl
Blot, William J.
Brauch, Hiltrud and
Buring, Julie E.
Carey, Lisa A.
Carpenter, Jane E. and
Chang-Claude, Jenny
Chanock, Stephen J.
Chasman, Daniel I. and
Clarke, Christine L.
Cox, Angela
Cross, Simon S.
Deming,
Sandra L.
Diasio, Robert B.
Dimopoulos, Athanasios M. and
Driver, W. Ryan
Duennebier, Thomas
Durcan, Lorraine
Eccles,
Diana
Edlund, Christopher K.
Ekici, Arif B.
Fasching, Peter
A.
Feigelson, Heather S.
Flesch-Janys, Dieter
Fostira,
Florentia
Foersti, Asta
Fountzilas, George
Gerty, Susan M.
and Giles, Graham G.
Godwin, Andrew K.
Goodfellow, Paul and
Graham, Nikki
Greco, Dario
Hamann, Ute
Hankinson, Susan E.
and Hartmann, Arndt
Hein, Rebecca
Heinz, Judith
Holbrook,
Andrea
Hoover, Robert N.
Hu, Jennifer J.
Hunter, David J.
and Ingles, Sue A.
Irwanto, Astrid
Ivanovich, Jennifer
John,
Esther M.
Johnson, Nicola
Jukkola-Vuorinen, Arja
Kaaks,
Rudolf
Ko, Yon-Dschun
Kolonel, Laurence N.
Konstantopoulou,
Irene
Kosma, Veli-Matti
Kulkarni, Swati
Lambrechts, Diether
and Lee, Adam M.
Le Marchand, Loic
Lesnick, Timothy
Liu,
Jianjun
Lindstrom, Sara
Mannermaa, Arto
Margolin, Sara and
Martin, Nicholas G.
Miron, Penelope
Montgomery, Grant W. and
Nevanlinna, Heli
Nickels, Stephan
Nyante, Sarah
Olswold,
Curtis
Palmer, Julie
Pathak, Harsh
Pectasides, Dimitrios and
Perou, Charles M.
Peto, Julian
Pharoah, Paul D. P.
Pooler,
Loreall C.
Press, Michael F.
Pylkas, Katri
Rebbeck, Timothy
R.
Rodriguez-Gil, Jorge L.
Rosenberg, Lynn
Ross, Eric and
Ruediger, Thomas
Silva, Isabel dos Santos
Sawyer, Elinor and
Schmidt, Marjanka K.
Schulz-Wendtland, Ruediger
Schumacher,
Fredrick
Severi, Gianluca
Sheng, Xin
Signorello, Lisa B. and
Sinn, Hans-Peter
Stevens, Kristen N.
Southey, Melissa C. and
Tapper, William J.
Tomlinson, Ian
Hogervorst, Frans B. L. and
Wauters, Els
Weaver, JoEllen
Wildiers, Hans
Winqvist, Robert
and Van Den Berg, David
Wan, Peggy
Xia, Lucy Y.
Yannoukakos,
Drakoulis
Zheng, Wei
Ziegler, Regina G.
Siddiq, Afshan and
Slager, Susan L.
Stram, Daniel O.
Easton, Douglas
Kraft,
Peter
Henderson, Brian E.
Couch, Fergus J.
Gene Environm
Interaction Breast C

Nature Genetics

Nature Publishing Group

43

12

1210-U61

https://doi.org/10.1038/ng.985

10.1038/ng.985

https://pergamos.lib.uoa.gr/uoa/dl/object/3151591