Evidence map›Paper›PMID 20852631›Full record

ArticleNature genetics2010

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

Antonis C Antoniou, Xianshu Wang, Zachary S Fredericksen, Lesley McGuffog, Robert Tarrell, Olga M Sinilnikova, Sue Healey, Jonathan Morrison, Christiana Kartsonaki, Timothy Lesnick and 175 more

Open access · bronzeAbstract readComparative Study
In one paragraph

Article in Nature genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 212 papers, 19 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
212citing papers in PubMed, 19 pooled it
25.9field-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

212 citing papers in PubMed, 19 syntheses or guidelines pooled it, 341 citations in OpenAlex.

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  9. Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk.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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  13. Single nucleotide polymorphism 6q25.1 rs2046210 and increased risk of breast cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2013
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152 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

185 authors at 20 institutions in 18 countries.

Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Xianshu Wang
Zachary S Fredericksen
Lesley McGuffog
Robert Tarrell
Olga M Sinilnikova
Sue Healey
Jonathan Morrison
Christiana Kartsonaki
Timothy Lesnick
Maya Ghoussaini
Daniel Barrowdale
EMBRACE
Susan Peock
Margaret Cook
Clare Oliver
Debra Frost
Diana Eccles
D Gareth Evans
Ros Eeles
Louise Izatt
Carol Chu
Fiona Douglas
Joan Paterson
Dominique Stoppa-Lyonnet
Claude Houdayer
Sylvie Mazoyer
Sophie Giraud
Christine Lasset
Audrey Remenieras
Olivier Caron
Agnès Hardouin
Pascaline Berthet
GEMO Study Collaborators
Frans B L Hogervorst
Matti A Rookus
Agnes Jager
Ans van den Ouweland
Nicoline Hoogerbrugge
Rob B van der Luijt
Hanne Meijers-Heijboer
Encarna B Gómez García
HEBON
Peter Devilee
Maaike P G Vreeswijk
Jan Lubinski
Anna Jakubowska
Jacek Gronwald
Tomasz Huzarski
Tomasz Byrski
Bohdan Górski
Cezary Cybulski
Amanda B Spurdle
Helene Holland
kConFab
David E Goldgar
Esther M John
John L Hopper
Melissa Southey
Saundra S Buys
Mary B Daly
Mary-Beth Terry
Rita K Schmutzler
Barbara Wappenschmidt
Christoph Engel
Alfons Meindl
Sabine Preisler-Adams
Norbert Arnold
Dieter Niederacher
Christian Sutter
Susan M Domchek
Katherine L Nathanson
Timothy Rebbeck
Joanne L Blum
Marion Piedmonte
Gustavo C Rodriguez
Katie Wakeley
John F Boggess
Jack Basil
Stephanie V Blank
Eitan Friedman
Bella Kaufman
Yael Laitman
Roni Milgrom
Irene L Andrulis
Gord Glendon
Hilmi Ozcelik
Tomas Kirchhoff
Joseph Vijai
Mia M Gaudet
David Altshuler
Candace Guiducci
SWE-BRCA
Niklas Loman
Katja Harbst
Johanna Rantala
Hans Ehrencrona
Anne-Marie Gerdes
Mads Thomassen
Lone Sunde
Paolo Peterlongo
Siranoush Manoukian
Bernardo Bonanni
Alessandra Viel
Paolo Radice
Trinidad Caldes
Miguel de la Hoya
Christian F Singer
Anneliese Fink-Retter
Mark H Greene
Phuong L Mai
Jennifer T Loud
Lucia Guidugli
Noralane M Lindor
Thomas V O Hansen
Finn C Nielsen
Ignacio Blanco
Conxi Lazaro
Judy Garber
Susan J Ramus
Simon A Gayther
Catherine Phelan
Stephen Narod
Csilla I Szabo
MOD SQUAD
Javier Benitez
Ana Osorio
Heli Nevanlinna
Tuomas Heikkinen
Maria A Caligo
Mary S Beattie
Ute Hamann
Andrew K Godwin
Marco Montagna
Cinzia Casella
Susan L Neuhausen
Beth Y Karlan
Nadine Tung
Amanda E Toland
Jeffrey Weitzel
Olofunmilayo Olopade
Jacques Simard
Penny Soucy
Wendy S Rubinstein
Adalgeir Arason
Gad Rennert
Nicholas G Martin
Grant W Montgomery
Jenny Chang-Claude
Dieter Flesch-Janys
Hiltrud Brauch
GENICA
Gianluca Severi
Laura Baglietto
Angela Cox
Simon S Cross
Penelope Miron
Sue M Gerty
William Tapper
Drakoulis Yannoukakos
George Fountzilas
Peter A Fasching
Matthias W Beckmann
Isabel Dos Santos Silva
Julian Peto
Diether Lambrechts
Robert Paridaens
Thomas Rüdiger
Asta Försti
Robert Winqvist
Katri Pylkäs
Robert B Diasio
Adam M Lee
Jeanette Eckel-Passow
Celine Vachon
Fiona Blows
Kristy Driver
Alison Dunning
Paul P D Pharoah
Kenneth Offit
V Shane Pankratz
Hakon Hakonarson
Georgia Chenevix-Trench
Douglas F Easton
Fergus J Couch
University of Cambridge · GBMayo Clinic · USQIMR Berghofer Medical Research Institute · AUMayo Clinic in Florida · USInstitut Gustave Roussy · FRLeiden University Medical Center · NLSheba Medical Center · ILUniversité Claude Bernard Lyon 1 · FRFondazione IRCCS Istituto Nazionale dei Tumori · ITGerman Cancer Research Center · DEInternational Hereditary Cancer Center · PLNational Cancer Institute · USThe Netherlands Cancer Institute · NLUniversity of Pennsylvania · USBroad Institute · USCancer Care Ontario · CACancer Council Victoria · AUCarmel Medical Center · ILCentre François Baclesse · FRCentre hospitalier universitaire de Québec · CA

Funding

ZOPOLRESTAT IN NORMOTENSIVE, TYPE 1 DIA WITH INCIPIENT NEPHROPATHYM01RR000043 · NCRR · UNIVERSITY OF SOUTHERN CALIFORNIA · PI ZAIA, JOHN A · 1985 to 2010
$76.4M
The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9M
Therapeutic Micro RNA Strategies for Ovarian CancerP50CA083638 · NCI · RESEARCH INST OF FOX CHASE CAN CTR · PI GODWIN, ANDREW K., GOLEMIS, ERICA A. · 1999 to 2013
$33.6M
Variation in Receptor Tyrosine Kinases and Breast Cancer RiskP50CA089393 · NCI · DANA-FARBER CANCER INSTITUTE · PI HARRIS, LYNDSAY NORINE · 2000 to 2009
$28.8M
Northern California Cooperative Family Registry for Breast CancerU01CA069417 · NCI · NORTHERN CALIFORNIA CANCER CENTER · PI JOHN, ESTHER M. · 1995 to 2010
$22.4M
METROPOLITAN NEW YORK REGISTRY OF BREAST CANCER FAMILIESU01CA069398 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI TERRY, MARY BETH · 1995 to 2010
$10.5M
ONTARIO REGISTRY FOR STUDIES OF FAMILIAL BREAST CANCERU01CA069467 · NCI · CANCER CARE ONTARIO · PI ANDRULIS, IRENE L. · 1995 to 2010
$10.4M
Fox Chase Clinical Epidemiology and Validation CenterU01CA113916 · NCI · RESEARCH INST OF FOX CHASE CAN CTR · PI ENGSTROM, PAUL FREDERICK · 2005 to 2015
$8.6M
Philadelphia Breast Cancer Family RegistryU01CA069631 · NCI · FOX CHASE CANCER CENTER · PI DALY, MARY BERYL · 1995 to 2010
$7.4M
THE AUSTRALIAN BREAST CANCER FAMILY REGISTRYU01CA069638 · NCI · UNIVERSITY OF MELBOURNE · PI HOPPER, JOHN L · 1995 to 2010
$6.6M
A genome-wide association study for breast cancer in BRCA1 mutation carriersR01CA128978 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2008 to 2012
$4.8M
Utah Breast Cancer Family RegistryU01CA069446 · NCI · UNIVERSITY OF UTAH · PI BUYS, SAUNDRA S · 1995 to 2010
$4.6M
Cancer Research UK 10118Cancer Research UK 10119Cancer Research UK 10124Cancer Research UK 11022Cancer Research UK 11174Cancer Research UK A10119Cancer Research UK A10124Medical Research Council G0801875NCI NIH HHS CA128978NCI NIH HHS P50 CA083638NCI NIH HHS P50 CA089393NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA074415NCI NIH HHS R01 CA122340NCI NIH HHS R01 CA128978NCI NIH HHS RC4 CA153828NCI NIH HHS U01 CA069398NCI NIH HHS U01 CA069417NCI NIH HHS U01 CA069446NCI NIH HHS U01 CA069467NCI NIH HHS U01 CA069631NCI NIH HHS U01 CA069638NCI NIH HHS U01 CA113916NCRR NIH HHS M01 RR000043Wellcome Trust
6 · The paper itself

Abstract

Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who were diagnosed with invasive breast cancer under age 40 and 1,190 BRCA1 carriers without breast cancer diagnosis over age 35. We took forward 96 SNPs for replication in another 5,986 BRCA1 carriers (2,974 individuals with breast cancer and 3,012 unaffected individuals). Five SNPs on 19p13 were associated with breast cancer risk (P(trend) = 2.3 × 10⁻⁹ to P(trend) = 3.9 × 10⁻⁷), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). Genotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association with estrogen receptor-negative breast cancer (rs2363956 per-allele odds ratio (OR) = 0.83, 95% CI 0.75-0.92, P(trend) = 0.0003) and an association with estrogen receptor-positive disease in the opposite direction (OR = 1.07, 95% CI 1.01-1.14, P(trend) = 0.016). The five SNPs were also associated with triple-negative breast cancer in a separate study of 2,301 triple-negative cases and 3,949 controls (P(trend) = 1 × 10⁻⁷) to P(trend) = 8 × 10⁻⁵; rs2363956 per-allele OR = 0.80, 95% CI 0.74-0.87, P(trend) = 1.1 × 10⁻⁷

Indexed as

Genetic Predisposition to DiseaseAdultBRCA1 ProteinBreast NeoplasmsCase-Control StudiesChromosomes, Human, Pair 19Erb-b2 Receptor Tyrosine KinasesFemaleGenotypeHumansMutationPolymorphism, Single NucleotideReceptors, EstrogenReceptors, ProgesteroneBRCA1 ProteinERBB2 protein, humanErb-b2 Receptor Tyrosine KinasesReceptors, EstrogenReceptors, Progesterone

Identifiers

PMID20852631
PMCPMC3130795
OpenAlexW2126864982

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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.