ArticlePloS one2016
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
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In one paragraph
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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10citing papers in PubMed, 1 pooled it
2.4field-weighted citation impact, top 10% of its field
What it found
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The trial behind it
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution.Human molecular genetics · 2017Pooled it
- Functional annotation of breast cancer risk loci: current progress and future directions.British journal of cancer · 2022Review
- Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.American journal of human genetics · 2021Article
- Fine-mapping of a novel premenopausal breast cancer susceptibility locus at Chr4q31.22 in Caucasian women and validation in African and Chinese women.International journal of cancer · 2020Observational
- Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.Nature genetics · 2020Article
- Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction.JAMA oncology · 2018Article
- Capture Hi-C identifies putative target genes at 33 breast cancer risk loci.Nature communications · 2018Article
- Elucidating the Underlying Functional Mechanisms of Breast Cancer Susceptibility Through Post-GWAS Analyses.Frontiers in genetics · 2018Review
- Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium.International journal of cancer · 2017Article
- Expression Quantitative Trait loci (QTL) in tumor adjacent normal breast tissue and breast tumor tissue.PloS one · 2017Article
Corrections and comments
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Authors and funding
115 authors at 20 institutions in 24 countries.
Hisani N HorneDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.
Charles C ChungDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.
Han ZhangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.
Kai YuDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.
Ludmila Prokunina-OlssonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
John L HopperCentre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.
Melissa C SoutheyDepartment of Pathology, The University of Melbourne, Melbourne, Australia.
Marjanka K SchmidtNetherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
Annegien BroeksNetherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
Kenneth MuirDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.
Artitaya LophatananonDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.
Peter A FaschingDepartment of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Matthias W BeckmannDepartment of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Olivia FletcherBreakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
Nichola JohnsonBreakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
Elinor J SawyerResearch Oncology, Guy's Hospital, King's College London, London, UK.
Ian TomlinsonWellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
Barbara BurwinkelDepartment of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
Frederik MarmeDepartment of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
Pascal GuénelEnvironmental Epidemiology of Cancer, Center for Research in Epidemiology and Population Health, INSERM, Villejuif, France.
Thérèse TruongEnvironmental Epidemiology of Cancer, Center for Research in Epidemiology and Population Health, INSERM, Villejuif, France.
Stig E BojesenCopenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.
Henrik FlygerDepartment of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.
Javier BenitezHuman Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.
Anna González-NeiraHuman Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.
Hoda Anton-CulverDepartment of Epidemiology, University of California Irvine, Irvine, CA, United States of America.
Susan L NeuhausenBeckman Research Institute of City of Hope, Duarte, CA, United States of America.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Alfons MeindlDivision of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.
Rita K SchmutzlerDivision of Molecular Gyneco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, Cologne, Germany.
Hiltrud BrauchGerman Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Sofia KhanDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Keitaro MatsuoDepartment of Preventive Medicine, Kyushu University Faculty of Medical Sciences, Fukuoka, Japan.
Hiroji IwataDepartment of Breast Oncology, Aichi Cancer Center Hospital, Aichi, Japan.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Natalia V BogdanovaDepartment of Radiation Oncology, Hannover Medical School, Hannover, Germany.
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Sara MargolinDepartment of Oncology - Pathology, Karolinska Institutet, Stockholm, Sweden.
Arto MannermaaCancer Center, Kuopio University Hospital, Kuopio, Finland.
Veli-Matti KosmaCancer Center, Kuopio University Hospital, Kuopio, Finland.
Georgia Chenevix-TrenchDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
kConFab/AOCS Investigators
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.
David Ven den BergDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.
Ann SmeetsUniversity Hospital Gashuisberg, Leuven, Belgium.
Hui ZhaoVesalius Research Center, Leuven, Belgium.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Anja RudolphDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.
Monica BarileDivision of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America.
Celine VachonDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, United States of America.
Graham G GilesCentre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.
Roger L MilneCentre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.
Loic Le MarchandUniversity of Hawaii Cancer Center, Honolulu, HI, United States of America.
Mark S GoldbergDepartment of Medicine, McGill University, Montreal, Canada.
Soo H TeoCancer Research Initiatives Foundation, Subang Jaya, Selangor, Malaysia.
Nur A M TaibBreast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, KualaLumpur, Malaysia.
Vessela KristensenDepartment of Genetics, Institute for Cancer Research, Radiumhospitalet, Oslo University Hospital, Oslo University Hospital, Oslo, Norway.
Anne-Lise Borresen-DaleDepartment of Genetics, Institute for Cancer Research, Radiumhospitalet, Oslo University Hospital, Oslo University Hospital, Oslo, Norway.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.
Martha ShrubsoleDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, Oulu, Finland.
Arja Jukkola-VuorinenDepartment of Oncology, Oulu University Hospital, University of Oulu, Oulu, Finland.
Irene L AndrulisLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.
Julia A KnightProsserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.
Peter DevileeDepartment of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Caroline SeynaeveDepartment of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Hatef DarabiDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Antoinette HollestelleDepartment of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
John W M MartensDepartment of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Jingmei LiDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Wei LuShanghai Center for Disease Control and Prevention, Shanghai, China.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.
Angela CoxSheffield Cancer Research, Department of Oncology, University of Sheffield, Sheffield, UK.
Simon S CrossAcademic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.
William BlotDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.
Qiuyin CaiDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, United States of America.
Mitul ShahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Craig LuccariniCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Caroline BaynesCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Patricia HarringtonCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Daehee KangDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.
Ji-Yeob ChoiDepartment of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
Mikael HartmanSaw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.
Kee Seng ChiaSaw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.
Maria KabischMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Diana TorresMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Suleeporn SangrajrangNational Cancer Institute, Bangkok, Thailand.
Paul BrennanInternational Agency for Research on Cancer, Lyon, France.
Susan SlagerDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, United States of America.
Drakoulis YannoukakosMolecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research "Demokritos", Athens, Greece.
Chen-Yang ShenSchool of Public Health, China Medical University, Taichung, Taiwan.
Ming-Feng HouCancer Center and Department of Surgery, Chung-Ho Memorial Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
Anthony SwerdlowDivision of Breast Cancer Research, The Institute of Cancer Research, London, UK.
Nick OrrBreakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
Jacques SimardCentre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Canada.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Jonine D FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.
University of Cambridge · GBGerman Cancer Research Center · DEInstitute of Cancer Research · GBKarolinska Institutet · SEVanderbilt University · USUniversity of Southern California · USNational Cancer Institute · USThe University of Melbourne · AUMayo Clinic in Florida · USMount Sinai Hospital · CAOslo University Hospital · NOSeoul National University · KRChina Medical University · TWMedizinische Hochschule Hannover · DENational Cancer Institute of Thailand · THNational University of Singapore · SGSpanish National Cancer Research Centre · ESThe Netherlands Cancer Institute · NLUniversität Hamburg · DEUniversité Paris-Sud · FR
Funding
Southern Community Cohort StudyR01CA092447 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BLOT, WILLIAM J., ZHENG, WEI · 2001 to 2015
$74.0MThe Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9MIdentifying and validating novel susceptibility genes for breast cancerR01CA176785 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, NATHANSON, KATHERINE L. · 2014 to 2018
$3.4MConsortium Study to Identify Breast Cancer Susceptibility LociR01CA148667 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI LONG, JIRONG, ZHENG, WEI · 2011 to 2015
$3.3MBRCA1 and BRCA2 missense mutations and breast cancer riskU01CA116167 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2013 to 2017
$2.7MCancer Research UK 10119Cancer Research UK 10124Cancer Research UK 16459Cancer Research UK 16561Cancer Research UK 16565NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA148667NCI NIH HHS R01 CA176785NCI NIH HHS U01 CA116167World Health Organization 001
Abstract
The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2: 120,300,000-120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Per-allelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry-specific principal components. The strongest association observed was with the original identified index SNP rs11249433 (minor allele frequency (MAF) 0.402; per-allele odds ratio (OR) = 1.10, 95% confidence interval (CI) 1.08-1.13, P = 1.49 x 10-21). The association for rs11249433 was limited to ER-positive breast cancers (test for heterogeneity P≤8.41 x 10-5). Additional analyses by other tumor characteristics showed stronger associations with moderately/well differentiated tumors and tumors of lobular histology. Although no significant eQTL associations were observed, in silico analyses showed that rs11249433 was located in a region that is likely a weak enhancer/promoter. Fine-mapping analysis of the 1p11.2 breast cancer susceptibility locus confirms this region to be limited to risk to cancers that are ER-positive.
Indexed as
Chromosome MappingChromosomes, Human, Pair 1Quantitative Trait LociAllelesBreast NeoplasmsCase-Control StudiesComputational BiologyFemaleGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHumansLinkage DisequilibriumNeoplasm GradingPolymorphism, Single Nucleotide
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