Evidence map›Paper›PMID 22267197›Full record

SynthesisNature genetics2012

Genome-wide association analysis identifies three new breast cancer susceptibility loci.

Maya Ghoussaini, Olivia Fletcher, Kyriaki Michailidou, Clare Turnbull, Marjanka K Schmidt, Ed Dicks, Joe Dennis, Qin Wang, Manjeet K Humphreys, Craig Luccarini and 177 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 170 papers, 10 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
170citing papers in PubMed, 10 pooled it
28.5field-weighted citation impact, top 1% of its field
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

170 citing papers in PubMed, 10 syntheses or guidelines pooled it, 284 citations in OpenAlex.

  1. Pooled it
  2. Genetic architecture of mammographic density as a risk factor for breast cancer: a systematic review.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023
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  13. 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
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  20. High Parathyroid Hormone Rather than Low Vitamin D Is Associated with Reduced Event-Free Survival in Childhood Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2024
    Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

187 authors at 20 institutions in 22 countries.

Maya GhoussainiCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, UK.
Olivia Fletcher
Kyriaki Michailidou
Clare Turnbull
Marjanka K Schmidt
Ed Dicks
Joe Dennis
Qin Wang
Manjeet K Humphreys
Craig Luccarini
Caroline Baynes
Don Conroy
Melanie Maranian
Shahana Ahmed
Kristy Driver
Nichola Johnson
Nicholas Orr
Isabel dos Santos Silva
Quinten Waisfisz
Hanne Meijers-Heijboer
Andre G Uitterlinden
Fernando Rivadeneira
Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer (HEBON)
Per Hall
Kamila Czene
Astrid Irwanto
Jianjun Liu
Heli Nevanlinna
Kristiina Aittomäki
Carl Blomqvist
Alfons Meindl
Rita K Schmutzler
Bertram Müller-Myhsok
Peter Lichtner
Jenny Chang-Claude
Rebecca Hein
Stefan Nickels
Dieter Flesch-Janys
Helen Tsimiklis
Enes Makalic
Daniel Schmidt
Minh Bui
John L Hopper
Carmel Apicella
Daniel J Park
Melissa Southey
David J Hunter
Stephen J Chanock
Annegien Broeks
Senno Verhoef
Frans B L Hogervorst
Peter A Fasching
Michael P Lux
Matthias W Beckmann
Arif B Ekici
Elinor Sawyer
Ian Tomlinson
Michael Kerin
Frederik Marme
Andreas Schneeweiss
Christof Sohn
Barbara Burwinkel
Pascal Guénel
Thérèse Truong
Emilie Cordina-Duverger
Florence Menegaux
Stig E Bojesen
Børge G Nordestgaard
Sune F Nielsen
Henrik Flyger
Roger L Milne
M Rosario Alonso
Anna González-Neira
Javier Benítez
Hoda Anton-Culver
Argyrios Ziogas
Leslie Bernstein
Christina Clarke Dur
Hermann Brenner
Heiko Müller
Volker Arndt
Christa Stegmaier
Familial Breast Cancer Study (FBCS)
Christina Justenhoven
Hiltrud Brauch
Thomas Brüning
Gene Environment Interaction of Breast Cancer in Germany (GENICA) Network
Shan Wang-Gohrke
Ursula Eilber
Thilo Dörk
Peter Schürmann
Michael Bremer
Peter Hillemanns
Natalia V Bogdanova
Natalia N Antonenkova
Yuri I Rogov
Johann H Karstens
Marina Bermisheva
Darya Prokofieva
Elza Khusnutdinova
Annika Lindblom
Sara Margolin
Arto Mannermaa
Vesa Kataja
Veli-Matti Kosma
Jaana M Hartikainen
Diether Lambrechts
Betul T Yesilyurt
Giuseppe Floris
Karin Leunen
Siranoush Manoukian
Bernardo Bonanni
Stefano Fortuzzi
Paolo Peterlongo
Fergus J Couch
Xianshu Wang
Kristen Stevens
Adam Lee
Graham G Giles
Laura Baglietto
Gianluca Severi
Catriona McLean
Grethe Grenaker Alnaes
Vessela Kristensen
Anne-Lise Børrensen-Dale
Esther M John
Alexander Miron
Robert Winqvist
Katri Pylkäs
Arja Jukkola-Vuorinen
Saila Kauppila
Irene L Andrulis
Gord Glendon
Anna Marie Mulligan
Peter Devilee
Christie J van Asperen
Rob A E M Tollenaar
Caroline Seynaeve
Jonine D Figueroa
Montserrat Garcia-Closas
Louise Brinton
Jolanta Lissowska
Maartje J Hooning
Antoinette Hollestelle
Rogier A Oldenburg
Ans M W van den Ouweland
Angela Cox
Malcolm W R Reed
Mitul Shah
Ania Jakubowska
Jan Lubinski
Katarzyna Jaworska
Katarzyna Durda
Michael Jones
Minouk Schoemaker
Alan Ashworth
Anthony Swerdlow
Jonathan Beesley
Xiaoqing Chen
kConFab Investigators
Australian Ovarian Cancer Study Group
Kenneth R Muir
Artitaya Lophatananon
Suthee Rattanamongkongul
Arkom Chaiwerawattana
Daehee Kang
Keun-Young Yoo
Dong-Young Noh
Chen-Yang Shen
Jyh-Cherng Yu
Pei-Ei Wu
Chia-Ni Hsiung
Annie Perkins
Ruth Swann
Louiza Velentzis
Diana M Eccles
Will J Tapper
Susan M Gerty
Nikki J Graham
Bruce A J Ponder
Georgia Chenevix-Trench
Paul D P Pharoah
Mark Lathrop
Alison M Dunning
Nazneen Rahman
Julian Peto
Douglas F Easton
University of Cambridge · GBInstitute of Cancer Research · GBThe University of Melbourne · AUGerman Cancer Research Center · DEErasmus MC · NLMedizinische Hochschule Hannover · DEHeidelberg University · DEHerlev Hospital · DKInserm · FRInternational Hereditary Cancer Center · PLKarolinska Institutet · SEOulu University Hospital · FISpanish National Cancer Research Centre · ESThe Netherlands Cancer Institute · NLUniversity of Eastern Finland · FIUniversity of Helsinki · FIUniversity of Southampton · GBBreast Cancer Now · GBCancer Council Victoria · AUInstitute of Biomedical Sciences, Academia Sinica · TW

Funding

Hormone-Related CancersZIACP010126 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI GIERACH, GRETCHEN · 2009 to 2025
$103.5M
Mayo Cancer Genetic Epidemiology Training ProgramR25CA092049 · NCI · MAYO CLINIC ROCHESTER · PI PETERSEN, GLORIA M., VACHON, CELINE M · 2001 to 2018
$5.3M
Breast Cancer Now BREAST CANCER NOW RESEARCH CENTRECancer Research UK 10118Cancer Research UK 10124Cancer Research UK 11022Cancer Research UK 15106Cancer Research UK 19275Cancer Research UK A10710Medical Research Council G0700491NCI NIH HHS R25 CA092049Wellcome Trust 090532
6 · The paper itself

Abstract

Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ∼8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in ∼70,000 cases and ∼68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 × 10(-35)), 12q24 (rs1292011; P = 4.3 × 10(-19)) and 21q21 (rs2823093; P = 1.1 × 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth.

Indexed as

Breast NeoplasmsChromosomes, Human, Pair 12Chromosomes, Human, Pair 21FemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLogistic ModelsPolymorphism, Single NucleotidePrincipal Component AnalysisWhite People

Identifiers

PMID22267197
PMCPMC3653403
OpenAlexW2161827216

What OpenQuestion holds

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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.