Document Detail


11q13 is a susceptibility locus for hormone receptor positive breast cancer.
MedLine Citation:
PMID:  22461340     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P ≤ 3 × 10(-9) ) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 × 10(-39) ). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.
Authors:
Diether Lambrechts; Therese Truong; Christina Justenhoven; Manjeet K Humphreys; Jean Wang; John L Hopper; Gillian S Dite; Carmel Apicella; Melissa C Southey; Marjanka K Schmidt; Annegien Broeks; Sten Cornelissen; Richard van Hien; Elinor Sawyer; Ian Tomlinson; Michael Kerin; Nicola Miller; Roger L Milne; M Pilar Zamora; José Ignacio Arias Pérez; Javier Benítez; Ute Hamann; Yon-Dschun Ko; Thomas Brüning; ; Jenny Chang-Claude; Ursel Eilber; Rebecca Hein; Stefan Nickels; Dieter Flesch-Janys; Shan Wang-Gohrke; Esther M John; Alexander Miron; Robert Winqvist; Katri Pylkäs; Arja Jukkola-Vuorinen; Mervi Grip; Georgia Chenevix-Trench; Jonathan Beesley; Xiaoqing Chen; ; ; Florence Menegaux; Emilie Cordina-Duverger; Chen-Yang Shen; Jyh-Cherng Yu; Pei-Ei Wu; Ming-Feng Hou; Irene L Andrulis; Teresa Selander; Gord Glendon; Anna Marie Mulligan; Hoda Anton-Culver; Argyrios Ziogas; Kenneth R Muir; Artitaya Lophatananon; Suthee Rattanamongkongul; Puttisak Puttawibul; Michael Jones; Nicholas Orr; Alan Ashworth; Anthony Swerdlow; Gianluca Severi; Laura Baglietto; Graham Giles; Melissa Southey; Federik Marmé; Andreas Schneeweiss; Christof Sohn; Barbara Burwinkel; Betul T Yesilyurt; Patrick Neven; Robert Paridaens; Hans Wildiers; Hermann Brenner; Heiko Müller; Volker Arndt; Christa Stegmaier; Alfons Meindl; Sarah Schott; Claus R Bartram; Rita K Schmutzler; Angela Cox; Ian W Brock; Graeme Elliott; Simon S Cross; Peter A Fasching; Ruediger Schulz-Wendtland; Arif B Ekici; Matthias W Beckmann; Olivia Fletcher; Nichola Johnson; Isabel Dos Santos Silva; Julian Peto; Heli Nevanlinna; Taru A Muranen; Kristiina Aittomäki; Carl Blomqvist; Thilo Dörk; Peter Schürmann; Michael Bremer; Peter Hillemanns; Natalia V Bogdanova; Natalia N Antonenkova; Yuri I Rogov; Johann H Karstens; Elza Khusnutdinova; Marina Bermisheva; Darya Prokofieva; Shamil Gancev; Anna Jakubowska; Jan Lubinski; Katarzyna Jaworska; Katarzyna Durda; Børge G Nordestgaard; Stig E Bojesen; Charlotte Lanng; Arto Mannermaa; Vesa Kataja; Veli-Matti Kosma; Jaana M Hartikainen; Paolo Radice; Paolo Peterlongo; Siranoush Manoukian; Loris Bernard; Fergus J Couch; Janet E Olson; Xianshu Wang; Zachary Fredericksen; Grethe Grenaker Alnaes; Vessela Kristensen; Anne-Lise Børresen-Dale; Peter Devilee; Robert A E M Tollenaar; Caroline M Seynaeve; Maartje J Hooning; Montserrat García-Closas; Stephen J Chanock; Jolanta Lissowska; Mark E Sherman; Per Hall; Jianjun Liu; Kamila Czene; Daehee Kang; Keun-Young Yoo; Dong-Young Noh; Annika Lindblom; Sara Margolin; Alison M Dunning; Paul D P Pharoah; Douglas F Easton; Pascal Guénel; Hiltrud Brauch
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.     Date:  2012-04-30
Journal Detail:
Title:  Human mutation     Volume:  33     ISSN:  1098-1004     ISO Abbreviation:  Hum. Mutat.     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-06-07     Completed Date:  2012-09-27     Revised Date:  2014-09-24    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1123-32     Citation Subset:  IM    
Copyright Information:
© 2012 Wiley Periodicals, Inc.
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MeSH Terms
Descriptor/Qualifier:
Breast Neoplasms / genetics*
Chromosomes, Human, Pair 11 / genetics*
European Continental Ancestry Group
Female
Genetic Predisposition to Disease / genetics
Genome-Wide Association Study
Genotype
Humans
Polymorphism, Single Nucleotide / genetics
Receptors, Estrogen / genetics*
Receptors, Progesterone / genetics*
Risk Factors
Grant Support
ID/Acronym/Agency:
090532//Wellcome Trust; C1287/A10118//Cancer Research UK; C1287/A12014//Cancer Research UK; CA116201/CA/NCI NIH HHS; CA122340/CA/NCI NIH HHS; CA128978/CA/NCI NIH HHS; CA58860/CA/NCI NIH HHS; CA92044/CA/NCI NIH HHS; P50 CA116201/CA/NCI NIH HHS; P50 CA116201-01/CA/NCI NIH HHS; R01 CA058860-10A1/CA/NCI NIH HHS; R01 CA058860-11/CA/NCI NIH HHS; R01 CA058860-12/CA/NCI NIH HHS; R01 CA058860-13/CA/NCI NIH HHS; R01 CA058860-14/CA/NCI NIH HHS; R01 CA122340/CA/NCI NIH HHS; R01 CA122340-01A1/CA/NCI NIH HHS; R01 CA122340-02/CA/NCI NIH HHS; R01 CA122340-03/CA/NCI NIH HHS; R01 CA122340-03S1/CA/NCI NIH HHS; R01 CA122340-04/CA/NCI NIH HHS; R01 CA122340-05/CA/NCI NIH HHS; R01 CA128978/CA/NCI NIH HHS; R01 CA128978-01A2/CA/NCI NIH HHS; R01 CA128978-02/CA/NCI NIH HHS; R01 CA128978-03/CA/NCI NIH HHS; R01 CA128978-04/CA/NCI NIH HHS; R01 CA128978-05/CA/NCI NIH HHS; U01 CA 69638/CA/NCI NIH HHS; U01 CA058860-06/CA/NCI NIH HHS; U01 CA058860-07/CA/NCI NIH HHS; U01 CA058860-08/CA/NCI NIH HHS; U01 CA058860-09/CA/NCI NIH HHS; U01 CA069417/CA/NCI NIH HHS; U01 CA069417-10/CA/NCI NIH HHS; U01 CA069417-11/CA/NCI NIH HHS; U01 CA069417-11S1/CA/NCI NIH HHS; U01 CA069417-12/CA/NCI NIH HHS; U01 CA069417-13/CA/NCI NIH HHS; U01 CA069417-14/CA/NCI NIH HHS; U01 CA069417-15/CA/NCI NIH HHS; U01 CA069417-15S1/CA/NCI NIH HHS; U01 CA069417-16/CA/NCI NIH HHS; U01 CA69417/CA/NCI NIH HHS; U01 CA69467/CA/NCI NIH HHS; Z01 CP010126-12/CP/NCI NIH HHS; Z01 CP010126-13/CP/NCI NIH HHS; Z01 CP010178-06/CP/NCI NIH HHS; Z01 CP010178-07/CP/NCI NIH HHS; ZIA CP010126-14/CP/NCI NIH HHS; ZIA CP010187-05/CP/NCI NIH HHS; ZIA CP010187-06/CP/NCI NIH HHS; ZIA CP010187-07/CP/NCI NIH HHS; ZIC CP010178-08/CP/NCI NIH HHS; ZIC CP010178-09/CP/NCI NIH HHS; ZIC CP010178-10/CP/NCI NIH HHS
Chemical
Reg. No./Substance:
0/Receptors, Estrogen; 0/Receptors, Progesterone
Investigator
Investigator/Affiliation:
Diether Lambrechts / ; Therese Truong / ; Christina Justenhoven / ; Douglas F Easton / ; Pascal Guénel / ; Hiltrud Brauch / ; Sylvia Rabstein / ; Anne Spickenheuer / ; Hans-Peter Fischer / ; Beate Pesch / ; Volker Harth / ; Christian Baisch / ; Heather Thorne / ; Eveline Niedermayr /
Comments/Corrections

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