Evidence map›Paper›PMID 36703164›Full record

SynthesisGenome medicine2023

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.

Stefanie H Mueller, Alvina G Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Michael Lush, Zomoruda Abu-Ful, Thomas U Ahearn and 173 more

Abstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Genome medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
–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

10 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Joint Screening for Ultra-High Dimensional Multi-Omics Data.Bioengineering (Basel, Switzerland) · 2024
    Article
  6. LowerBiology · 2024
    Article
  7. Review
  8. Article
  9. Association ofmedRxiv : the preprint server for health sciences · 2023
    Article
  10. Article
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

183 authors.

Stefanie H MuellerInstitute of Health Informatics, University College London, London, UK.
Alvina G LaiInstitute of Health Informatics, University College London, London, UK.
Maria ValkovskayaDivision of Psychiatry, University College London, London, UK.
Kyriaki MichailidouBiostatistics Unit, The Cyprus Institute of Neurology and Genetics, 2371, Nicosia, Cyprus.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Michael LushCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Zomoruda Abu-FulClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, 35254, Haifa, Israel.
Thomas U AhearnDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20850, USA.
Irene L AndrulisFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, M5G 1X5, Canada.
Hoda Anton-CulverDepartment of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, 92617, USA.
Natalia N AntonenkovaN.N. Alexandrov Research Institute of Oncology and Medical Radiology, 223040, Minsk, Belarus.
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Kristan J AronsonDepartment of Public Health Sciences, and Cancer Research Institute, Queen's University, Kingston, ON, K7L 3N6, Canada.
Annelie AugustinssonDepartment of Cancer Epidemiology, Clinical Sciences, Lund University, 222 42, Lund, Sweden.
Thais BaertLeuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, 3000, Louvain, Belgium.
Laura E Beane FreemanDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20850, USA.
Matthias W BeckmannDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), 91054, Erlangen, Germany.
Sabine BehrensDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Javier BenitezBiomedical Network On Rare Diseases (CIBERER), 28029, Madrid, Spain.
Marina BermishevaInstitute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, 450054, Russia.
Carl BlomqvistDepartment of Oncology, Helsinki University Hospital, University of Helsinki, 00290, Helsinki, Finland.
Natalia V BogdanovaN.N. Alexandrov Research Institute of Oncology and Medical Radiology, 223040, Minsk, Belarus.
Stig E BojesenCopenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730, Herlev, Denmark.
Bernardo BonanniDivision of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, 20141, Milan, Italy.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Sara Y BruckerDepartment of Gynecology and Obstetrics, University of Tübingen, 72076, Tübingen, Germany.
Saundra S BuysDepartment of Medicine, Huntsman Cancer Institute, Salt Lake City, UT, 84112, USA.
Jose E CastelaoOncology and Genetics Unit, Instituto de Investigación Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, 36312, Vigo, Spain.
Tsun L ChanHong Kong Hereditary Breast Cancer Family Registry, Hong Kong, China.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20850, USA.
Ji-Yeob ChoiDepartment of Biomedical Sciences, Seoul National University Graduate School, Seoul, 03080, Korea.
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University, New York, NY, 10032, USA.
NBCS Collaborators
Sarah V ColonnaDepartment of Medicine, Huntsman Cancer Institute, Salt Lake City, UT, 84112, USA.
CTS Consortium
Sten CornelissenDivision of Molecular Pathology, The Netherlands Cancer Institute - Antoni Van Leeuwenhoek Hospital, Amsterdam, 1066 CX, The Netherlands.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 65, Stockholm, Sweden.
Mary B DalyDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, 19111, USA.
Peter DevileeDepartment of Pathology, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands.
Thilo DörkGynaecology Research Unit, Hannover Medical School, 30625, Hannover, Germany.
Laure DossusNutrition and Metabolism Section, International Agency for Research On Cancer (IARC-WHO), 69372, Lyon, France.
Miriam DwekSchool of Life Sciences, University of Westminster, London, W1W 6UW, UK.
Diana M EcclesFaculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK.
Arif B EkiciInstitute of Human Genetics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), 91054, Erlangen, Germany.
A Heather EliassenChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
Christoph EngelInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107, Leipzig, Germany.
D Gareth EvansDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, M13 9WL, UK.
Peter A FaschingDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), 91054, Erlangen, Germany.
Olivia FletcherThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, SW7 3RP, UK.
Henrik FlygerDepartment of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730, Herlev, Denmark.
Manuela Gago-DominguezGenomic Medicine Group, International Cancer Genetics and Epidemiology Group, Fundación Pœblica Galega de Medicina Xenómica, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, 15706, Santiago de Compostela, Spain.
Yu-Tang GaoDepartment of Epidemiology, Shanghai Cancer Institute, Shanghai, 20032, China.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20850, USA.
José A García-SáenzMedical Oncology Department, Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), 28040, Madrid, Spain.
Jeanine GenkingerDepartment of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, 10032, USA.
Aleksandra Gentry-MaharajInstitute of Clinical Trials and Methodology, University College London, London, WC1V 6LJ, UK.
Felix GrassmannDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 65, Stockholm, Sweden.
Pascal GuénelCenter for Research in Epidemiology and Population Health (CESP), Team Exposome and Heredity, INSERM, University Paris-Saclay, 94805, Villejuif, France.
Melanie GündertMolecular Epidemiology Group, German Cancer Research Center (DKFZ), C08069120, Heidelberg, Germany.
Lothar HaeberleDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), 91054, Erlangen, Germany.
Eric HahnenCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937, Cologne, Germany.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, 90033, USA.
Niclas HåkanssonInstitute of Environmental Medicine, Karolinska Institutet, 171 77, Stockholm, Sweden.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 65, Stockholm, Sweden.
Elaine F HarknessDivision of Informatics, Imaging and Data Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, M13 9PT, UK.
Patricia A HarringtonCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, CB1 8RN, UK.
Jaana M HartikainenTranslational Cancer Research Area, University of Eastern Finland, 70210, Kuopio, Finland.
Mikael HartmanSaw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore, 119077, Singapore.
Alexander HeinDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), 91054, Erlangen, Germany.
Weang-Kee HoDepartment of Mathematical Sciences, Faculty of Science and Engineering, University of Nottingham Malaysia Campus, 43500, Semenyih, Selangor, Malaysia.
Maartje J HooningDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, 3015 GD, The Netherlands.
Reiner HoppeDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, 70376, Stuttgart, Germany.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Richard S HoulstonDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
Anthony HowellDivision of Cancer Sciences, University of Manchester, Manchester, M13 9PL, UK.
David J HunterDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, 02115, USA.
Dezheng HuoCenter for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, 60637, USA.
ABCTB Investigators
Hidemi ItoDivision of Cancer Information and Control, Aichi Cancer Center Research Institute, Nagoya, 464-8681, Japan.
Motoki IwasakiDivision of Epidemiology, Center for Public Health Sciences, National Cancer Center Institute for Cancer Control, Tokyo, 104-0045, Japan.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, 71-252, Szczecin, Poland.
Wolfgang JanniDepartment of Gynaecology and Obstetrics, University Hospital Ulm, 89075, Ulm, Germany.
Esther M JohnDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Michael E JonesDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
Audrey JungDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Rudolf KaaksDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Daehee KangCancer Research Institute, Seoul National University, Seoul, 03080, Korea.
Elza K KhusnutdinovaInstitute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, 450054, Russia.
Sung-Won KimDepartment of Surgery, Daerim Saint Mary's Hospital, Seoul, 07442, Korea.
Cari M KitaharaRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Stella KoutrosDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20850, USA.
Peter KraftDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, 02115, USA.
Vessela N KristensenInstitute of Clinical Medicine, Faculty of Medicine, University of Oslo, 0450, Oslo, Norway.
Katerina Kubelka-SabitDepartment of Histopathology and Cytology, Clinical Hospital Acibadem Sistina, Skopje, 1000, Republic of North Macedonia.
Allison W KurianDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Ava KwongHong Kong Hereditary Breast Cancer Family Registry, Hong Kong, China.
James V LaceyDepartment of Computational and Quantitative Medicine, City of Hope, Duarte, CA, 91010, USA.
Diether LambrechtsVIB Center for Cancer Biology, 3001, Louvain, Belgium.
Loic Le MarchandEpidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, 96813, USA.
Jingmei LiHuman Genetics Division, Genome Institute of Singapore, Singapore, 138672, Singapore.
Martha LinetRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Wing-Yee LoDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, 70376, Stuttgart, Germany.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, 37232, USA.
Artitaya LophatananonDivision of Population Health, Health Services Research and Primary Care, School of Health Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK.
Arto MannermaaTranslational Cancer Research Area, University of Eastern Finland, 70210, Kuopio, Finland.
Mehdi ManoochehriMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Sara MargolinDepartment of Oncology, 118 83, Sšdersjukhuset, Stockholm, Sweden.
Keitaro MatsuoDivision of Cancer Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan.
Dimitrios MavroudisDepartment of Medical Oncology, University Hospital of Heraklion, 711 10, Heraklion, Greece.
Usha MenonInstitute of Clinical Trials and Methodology, University College London, London, WC1V 6LJ, UK.
Kenneth MuirDivision of Population Health, Health Services Research and Primary Care, School of Health Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK.
Rachel A MurphySchool of Population and Public Health, University of British Columbia, Vancouver, BC, V6T 1Z4, Canada.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, 00290, Helsinki, Finland.
William G NewmanDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, M13 9WL, UK.
Dieter NiederacherDepartment of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, 40225, Düsseldorf, Germany.
Katie M O'BrienEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, 27709, USA.
Nadia ObiInstitute for Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
Kenneth OffitClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, 60637, USA.
Andrew F OlshanDepartment of Epidemiology, Gillings School of Global Public Health and UNC Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Håkan OlssonDepartment of Cancer Epidemiology, Clinical Sciences, Lund University, 222 42, Lund, Sweden.
Sue K ParkCancer Research Institute, Seoul National University, Seoul, 03080, Korea.
Alpa V PatelDepartment of Population Science, American Cancer Society, Atlanta, GA, 30303, USA.
Achal PatelDepartment of Epidemiology, Gillings School of Global Public Health and UNC Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Charles M PerouDepartment of Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Julian PetoDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, WC1E 7HT, UK.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Dijana Plaseska-KaranfilskaResearch Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", MASA, Skopje, 1000, Republic of North Macedonia.
Nadege PresneauSchool of Life Sciences, University of Westminster, London, W1W 6UW, UK.
Brigitte RackDepartment of Gynaecology and Obstetrics, University Hospital Ulm, 89075, Ulm, Germany.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale Dei Tumori (INT), 20133, Milan, Italy.
Dhanya RamachandranGynaecology Research Unit, Hannover Medical School, 30625, Hannover, Germany.
Muhammad U RashidMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Gad RennertClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, 35254, Haifa, Israel.
Atocha RomeroMedical Oncology Department, Hospital Universitario Puerta de Hierro, 28222, Madrid, Spain.
Kathryn J RuddyDepartment of Oncology, Mayo Clinic, Rochester, MN, 55905, USA.
Matthias RuebnerDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), 91054, Erlangen, Germany.
Emmanouil SaloustrosDepartment of Oncology, University Hospital of Larissa, 411 10, Larissa, Greece.
Dale P SandlerEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, 27709, USA.
Elinor J SawyerSchool of Cancer and Pharmaceutical Sciences, Comprehensive Cancer Centre, Guy's Campus, King's College London, London, SE1 9RT, UK.
Marjanka K SchmidtDivision of Molecular Pathology, The Netherlands Cancer Institute - Antoni Van Leeuwenhoek Hospital, Amsterdam, 1066 CX, The Netherlands.
Rita K SchmutzlerCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937, Cologne, Germany.
Michael O SchneiderDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), 91054, Erlangen, Germany.
Christopher ScottDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, 55905, USA.
Mitul ShahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, CB1 8RN, UK.
Priyanka SharmaDepartment of Internal Medicine, Division of Medical Oncology, University of Kansas Medical Center, Westwood, KS, 66205, USA.
Chen-Yang ShenInstitute of Biomedical Sciences, Academia Sinica, Taipei, 115, Taiwan.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, 37232, USA.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Québec City, QC, G1V 4G2, Canada.
Harald SurowyMolecular Epidemiology Group, German Cancer Research Center (DKFZ), C08069120, Heidelberg, Germany.
Rulla M TamimiDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, 02115, USA.
William J TapperFaculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK.
Jack A TaylorEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, 27709, USA.
Soo Hwang TeoBreast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, 47500, Selangor, Malaysia.
Lauren R TerasDepartment of Population Science, American Cancer Society, Atlanta, GA, 30303, USA.
Amanda E TolandDepartment of Cancer Biology and Genetics, The Ohio State University, Columbus, OH, 43210, USA.
Rob A E M TollenaarDepartment of Surgery, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands.
Diana TorresMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Gabriela Torres-MejíaCenter for Population Health Research, National Institute of Public Health, 62100, Cuernavaca, Morelos, Mexico.
Melissa A TroesterDepartment of Epidemiology, Gillings School of Global Public Health and UNC Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Thérèse TruongCenter for Research in Epidemiology and Population Health (CESP), Team Exposome and Heredity, INSERM, University Paris-Saclay, 94805, Villejuif, France.
Celine M VachonDepartment of Quantitative Health Sciences, Division of Epidemiology, Mayo Clinic, Rochester, MN, 55905, USA.
Joseph VijaiClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.
Clarice R WeinbergBiostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, 27709, USA.
Camilla WendtDepartment of Clinical Science and Education, Sšdersjukhuset, Karolinska Institutet, 118 83, Stockholm, Sweden.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, 90570, Oulu, Finland.
Alicja WolkInstitute of Environmental Medicine, Karolinska Institutet, 171 77, Stockholm, Sweden.
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, 90033, USA.
Taiki YamajiDivision of Epidemiology, Center for Public Health Sciences, National Cancer Center Institute for Cancer Control, Tokyo, 104-0045, Japan.
Xiaohong R YangDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20850, USA.
Jyh-Cherng YuDepartment of Surgery, Tri-Service General Hospital, National Defense Medical Center, Taipei, 114, Taiwan.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, 37232, USA.
Argyrios ZiogasDepartment of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, 92617, USA.
Elad ZivDepartment of Medicine, Diller Family Comprehensive Cancer Center, Institute for Human Genetics, UCSF Helen, University of California San Francisco, San Francisco, CA, 94115, USA.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, CB1 8RN, UK.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Harry HemingwayInstitute of Health Informatics, University College London, London, UK.
Ute Hamann *Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Karoline B Kuchenbaecker *Division of Psychiatry, University College London, London, UK. k.kuchenbaecker@ucl.ac.uk.ORCID 0000-0001-9726-603X

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4M
VIRAL MALIGNANCYP30CA023100 · NCI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI DIANE M SIMEONE · 1985 to 2026
$124.9M
Transgenic Mouse FacilityP30CA033572 · NCI · CITY OF HOPE/BECKMAN RESEARCH INSTITUTE · PI John Charles Williams · 1985 to 2026
$86.3M
Tissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BENJAMIN CARLISLE CALHOUN · 1992 to 2026
$59.3M
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
UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Hazel B Nichols · 2001 to 2026
$36.3M
CALIFORNIA TEACHERS STUDYR01CA077398 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI BERNSTEIN, LESLIE · 1998 to 2014
$29.7M
Environmental and Genetic Risk Factors For Breast Cancer: The Sister StudyZIAES044005 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI SANDLER, DALE P · 2009 to 2025
$22.7M
Life Course Cancer Epidemiology Cohort in WomenU01CA176726 · NCI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI ELIASSEN, A. HEATHER, WILLETT, WALTER C. · 2018 to 2025
$22.4M
Long Term Multidisciplinary Study of Cancer in Women: The Nurses Health StudyUM1CA186107 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIASSEN, A. HEATHER, STAMPFER, MEIR · 2014 to 2023
$22.3M
Oil and Gas as Drivers of Climate Change and Health: Developing unique resources to investigate multi-level and diverse effects of exposure to oil and gas wellsU01CA199277 · NCI · BECKMAN RESEARCH INSTITUTE/CITY OF HOPE · PI LACEY, JAMES V, MARTINEZ, MARIA ELENA · 2015 to 2024
$20.7M
Core-001U01CA164920 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Irene Andrulis, Sarah Violet Colonna · 2018 to 2026
$17.0M
Cancer Research UK 10118Cancer Research UK 14136Cancer Research UK 16563Cancer Research UK 29186Cancer Research UK C12292/A11174Cancer Research UK C1275/A11699Cancer Research UK C1275/A15956Cancer Research UK C1275/A19187Cancer Research UK C1275/C22524Cancer Research UK C1281/A12014Cancer Research UK C1287/A10118Cancer Research UK C1287/A10710Cancer Research UK C1287/A16563Cancer Research UK C490/A10124Cancer Research UK C490/A16561Cancer Research UK C5047/A10692Cancer Research UK C5047/A15007Cancer Research UK C5047/A8384Cancer Research UK C570/A16491Cancer Research UK C8197/A16565Cancer Research UK C8221/A19170Department of Health IS-BRC-1215-20007Department of Health PGFAR 0707-10031FIC NIH HHS D43 TW009112Intramural NIH HHS Z01 CP010119Intramural NIH HHS Z01 ES044005Intramural NIH HHS Z01 ES049030Intramural NIH HHS Z01 ES049033Medical Research Council 1000143Medical Research Council G1000143Medical Research Council MC_UU_00004/01Medical Research Council MR/M012190/1NCCDPHP CDC HHS NU58DP006344NCI NIH HHS HHSN261201800009INCI NIH HHS HHSN261201800015INCI NIH HHS HHSN261201800032INCI NIH HHS K24 CA169004NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA023100NCI NIH HHS P30 CA033572NCI NIH HHS P50 CA058223NCI NIH HHS P50 CA125183NCI NIH HHS R01 CA077398NCI NIH HHS R01 CA100374NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA120120NCI NIH HHS R01 CA148667NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA192393NCI NIH HHS R03 CA130065NCI NIH HHS R35 CA253187NCI NIH HHS U01 CA164920NCI NIH HHS U01 CA176726NCI NIH HHS U01 CA179715NCI NIH HHS U01 CA199277NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS U54 CA156733NCI NIH HHS UM1 CA164917NCI NIH HHS UM1 CA164920NCI NIH HHS UM1 CA176726NCI NIH HHS UM1 CA186107NIEHS NIH HHS P30 ES010126Wellcome Trust 203477/Z/16/ZWorld Health Organization 001
6 · The paper itself

Abstract

backgroundLow-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.

methodsWe evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes' coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry.

resultsIn European ancestry samples, 14 genes were significantly associated (q < 0.05) with BC. Of those, two genes, FMNL3 (P = 6.11 × 10

conclusionsUsing extended gene-based aggregation tests including coding and regulatory variation, we report identification of plausible target genes for previously identified single-marker associations with BC as well as the discovery of novel genes implicated in BC development. Including multi ancestral cohorts in this study enabled the identification of otherwise missed disease associations as ESR1 (P = 1.31 × 10

Indexed as

Breast NeoplasmsBlack PeopleFemaleForminsGenetic Predisposition to DiseaseGenetic TestingGenome-Wide Association StudyHumansPolymorphism, Single NucleotideFMNL3 protein, humanForminsBreast cancer susceptibilityDiverse ancestryGene regulationGenome-wide association studyRare variants

Identifiers

PMID36703164
PMCPMC9878779

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.