Evidence map›Paper›PMID 22976474›Full record

SynthesisHuman molecular genetics2012

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

Afshan Siddiq, Fergus J Couch, Gary K Chen, Sara Lindström, Diana Eccles, Robert C Millikan, Kyriaki Michailidou, Daniel O Stram, Lars Beckmann, Suhn Kyong Rhie and 133 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 129 papers, 13 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
129citing papers in PubMed, 13 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

129 citing papers in PubMed, 13 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Pooled it
  7. Pooled it
  8. Identification of novel genetic markers of breast cancer survival.Journal of the National Cancer Institute · 2015
    Pooled it
  9. Pooled it
  10. Pooled it
  11. Pooled it
  12. Pooled it
  13. Pooled it
  14. Genome-wide association study of aromatase inhibitor discontinuation due to musculoskeletal symptoms.Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer · 2022
    Trial
  15. Trial
  16. Putative linkage signals identified for breast cancer in African American families.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2015
    Trial
  17. The Multiethnic Cohort: A Resource for the Study of Genetic and Nongenetic Cancer Risk across Populations.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026
    Article
  18. Article
  19. Article
  20. Article

69 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

143 authors.

Afshan SiddiqDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.
Fergus J Couch
Gary K Chen
Sara Lindström
Diana Eccles
Robert C Millikan
Kyriaki Michailidou
Daniel O Stram
Lars Beckmann
Suhn Kyong Rhie
Christine B Ambrosone
Kristiina Aittomäki
Pilar Amiano
Carmel Apicella
Australian Breast Cancer Tissue Bank Investigators
Laura Baglietto
Elisa V Bandera
Matthias W Beckmann
Christine D Berg
Leslie Bernstein
Carl Blomqvist
Hiltrud Brauch
Louise Brinton
Quang M Bui
Julie E Buring
Saundra S Buys
Daniele Campa
Jane E Carpenter
Daniel I Chasman
Jenny Chang-Claude
Constance Chen
Françoise Clavel-Chapelon
Angela Cox
Simon S Cross
Kamila Czene
Sandra L Deming
Robert B Diasio
W Ryan Diver
Alison M Dunning
Lorraine Durcan
Arif B Ekici
Peter A Fasching
Familial Breast Cancer Study
Heather Spencer Feigelson
Laura Fejerman
Jonine D Figueroa
Olivia Fletcher
Dieter Flesch-Janys
Mia M Gaudet
GENICA Consortium
Susan M Gerty
Jorge L Rodriguez-Gil
Graham G Giles
Carla H van Gils
Andrew K Godwin
Nikki Graham
Dario Greco
Per Hall
Susan E Hankinson
Arndt Hartmann
Rebecca Hein
Judith Heinz
Robert N Hoover
John L Hopper
Jennifer J Hu
Scott Huntsman
Sue A Ingles
Astrid Irwanto
Claudine Isaacs
Kevin B Jacobs
Esther M John
Christina Justenhoven
Rudolf Kaaks
Laurence N Kolonel
Gerhard A Coetzee
Mark Lathrop
Loic Le Marchand
Adam M Lee
I-Min Lee
Timothy Lesnick
Peter Lichtner
Jianjun Liu
Eiliv Lund
Enes Makalic
Nicholas G Martin
Catriona A McLean
Hanne Meijers-Heijboer
Alfons Meindl
Penelope Miron
Kristine R Monroe
Grant W Montgomery
Bertram Müller-Myhsok
Stefan Nickels
Sarah J Nyante
Curtis Olswold
Kim Overvad
Domenico Palli
Daniel J Park
Julie R Palmer
Harsh Pathak
Julian Peto
Paul Pharoah
Nazneen Rahman
Fernando Rivadeneira
Daniel F Schmidt
Rita K Schmutzler
Susan Slager
Melissa C Southey
Kristen N Stevens
Hans-Peter Sinn
Michael F Press
Eric Ross
Elio Riboli
Paul M Ridker
Fredrick R Schumacher
Gianluca Severi
Isabel Dos Santos Silva
Jennifer Stone
Malin Sund
William J Tapper
Michael J Thun
Ruth C Travis
Clare Turnbull
Andre G Uitterlinden
Quinten Waisfisz
Xianshu Wang
Zhaoming Wang
Joellen Weaver
Rüdiger Schulz-Wendtland
Lynne R Wilkens
David Van Den Berg
Wei Zheng
Regina G Ziegler
Elad Ziv
Heli Nevanlinna
Douglas F Easton
David J Hunter
Brian E Henderson
Stephen J Chanock
Montserrat Garcia-Closas
Peter Kraft
Christopher A Haiman
Celine M Vachon

Funding

Virology Research Program (Program 4)P30CA016086 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI David Darr · 1985 to 2026
$201.5M
Two-Spirit Films in Indigenous Cancer HealthP30CA016056 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI Dean G. Tang · 1985 to 2026
$116.6M
Hormone-Related CancersZIACP010126 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI GIERACH, GRETCHEN · 2009 to 2025
$103.5M
Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ROSNER, BERNARD A · 2000 to 2019
$77.8M
Tissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CHARLES M PEROU · 1992 to 2026
$59.3M
University of Hawaii Cancer Center CCSGP30CA071789 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI GERTRAUD MASKARINEC · 1996 to 2026
$56.2M
The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2005 to 2026
$49.9M
UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Stephanie Engel · 2001 to 2026
$36.3M
Risk Factors for Breast Cancer in Younger NursesR01CA050385 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI ELIASSEN, A. HEATHER, WILLETT, WALTER C. · 1989 to 2019
$32.3M
CALIFORNIA TEACHERS STUDYR01CA077398 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI BERNSTEIN, LESLIE · 1998 to 2014
$29.7M
Variation in Receptor Tyrosine Kinases and Breast Cancer RiskP50CA089393 · NCI · DANA-FARBER CANCER INSTITUTE · PI WINER, ERIC P · 2000 to 2009
$28.8M
Women's Health Study: Continued Follow-upR01CA047988 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI BURING, JULIE E., LEE, I-MIN · 1991 to 2014
$28.2M
Breast Cancer Now 2004NOV49Cancer Research UK 10118Cancer Research UK 10124Cancer Research UK 11022Cancer Research UK 15106Intramural NIH HHSMedical Research Council G0700491NCI NIH HHS 5U01CA113916NCI NIH HHS 5UO1CA098233NCI NIH HHS CA047988NCI NIH HHS CA-06-503NCI NIH HHS CA109147NCI NIH HHS CA116201NCI NIH HHS CA120120NCI NIH HHS CA122340NCI NIH HHS CA132839NCI NIH HHS CA49449NCI NIH HHS CA50385NCI NIH HHS CA 65725NCI NIH HHS CA67262NCI NIH HHS CA87969NCI NIH HHS K01 CA160607NCI NIH HHS K24 CA169004NCI NIH HHS P01 CA087969NCI NIH HHS P30 CA016056NCI NIH HHS P30 CA016056-32NCI NIH HHS P30 CA016086NCI NIH HHS P30 CA071789NCI NIH HHS P50 CA058223NCI NIH HHS P50 CA089393NCI NIH HHS P50 CA116201NCI NIH HHS P50-CA58223NCI NIH HHS R01 CA049449NCI NIH HHS R01 CA050385NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA065725NCI NIH HHS R01 CA067262NCI NIH HHS R01 CA073629NCI NIH HHS R01 CA077398NCI NIH HHS R01 CA100374NCI NIH HHS R01-CA100374NCI NIH HHS R01 CA100598NCI NIH HHS R01-CA100598NCI NIH HHS R01 CA109147NCI NIH HHS R01 CA120120NCI NIH HHS R01 CA122340NCI NIH HHS R01 CA132839NCI NIH HHS R01-CA63464NCI NIH HHS R01-CA73629NCI NIH HHS R01-CA77305NCI NIH HHS R25 CA092049NCI NIH HHS R37 CA054281NCI NIH HHS R37-CA54281NCI NIH HHS RFA-CA-06-503NCI NIH HHS U01 CA049449NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA067262NCI NIH HHS U01 CA069417NCI NIH HHS U01 CA069631NCI NIH HHS U01 CA069638NCI NIH HHS U01 CA098216NCI NIH HHS U01 CA098233NCI NIH HHS U01 CA098710NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA113916NCI NIH HHS U01-CA69417NCI NIH HHS U01CA69631NCI NIH HHS U01 CA69638NCI NIH HHS U01-CA98216NCI NIH HHS U01-CA98233NCI NIH HHS U01-CA98710NCI NIH HHS U01-CA98758NHLBI NIH HHS HL04385NHLBI NIH HHS HL080467NHLBI NIH HHS R01 HL043851NHLBI NIH HHS R01 HL080467NICHD NIH HHS N01-HD-3-3175NIEHS NIH HHS P30 ES010126NIEHS NIH HHS P30-ES10126Wellcome Trust
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ≤ 1 × 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10(-8)) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10(-6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10(-9)), and with both ER-positive (OR = 1.09; P = 1.5 × 10(-5)) and ER-negative (OR = 1.16, P = 2.5 × 10(-7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.

Indexed as

Genome-Wide Association StudyBreast NeoplasmsFemaleGenetic Predisposition to DiseaseHumansPolymorphism, Single NucleotideReceptors, EstrogenReceptors, Estrogen

Identifiers

PMID22976474
PMCPMC3510753

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.