Evidence map›Paper›PMID 26921362›Full record

ArticleJournal of medical genetics2016

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.

Douglas F Easton, Fabienne Lesueur, Brennan Decker, Kyriaki Michailidou, Jun Li, Jamie Allen, Craig Luccarini, Karen A Pooley, Mitul Shah, Manjeet K Bolla and 123 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
63citing papers in PubMed, 4 pooled it
15.6field-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

63 citing papers in PubMed, 4 syntheses or guidelines pooled it, 103 citations in OpenAlex.

  1. Guideline
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Trial
  6. Article
  7. The Genetic and Molecular Analyses of Rare Candidate GermlineInternational journal of molecular sciences · 2026
    Article
  8. Review
  9. Cohort Profile: Lifepool.International journal of epidemiology · 2025
    Article
  10. Review
  11. Article
  12. Review
  13. Article
  14. Review
  15. Review
  16. Review
  17. Article
  18. Article
  19. Article
  20. Review

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

133 authors at 20 institutions in 25 countries.

Douglas F EastonDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Fabienne LesueurGenetic Epidemiology of Cancer team, Inserm, U900, Institut Curie, Mines ParisTech, Paris, France.
Brennan DeckerDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK Cancer Genetics and Comparative Genomics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Kyriaki MichailidouDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Jun LiDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Jamie AllenDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Craig LuccariniDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Karen A PooleyDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Mitul ShahDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Manjeet K BollaDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Qin WangDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Joe DennisDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Jamil AhmadGenetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France.
Ella R ThompsonResearch Division, Peter MacCallum Cancer Centre, East Melbourne, Australia Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Australia.
Francesca DamiolaGenetic of Breast Cancer Team, Cancer Research Center of Lyon, Centre Léon Bérard, Lyon, France.
Maroulio PertesiGenetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France.
Catherine VoegeleGenetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France.
Noura MebiroukGenetic Epidemiology of Cancer team, Inserm, U900, Institut Curie, Mines ParisTech, Paris, France.
Nivonirina RobinotGenetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France.
Geoffroy DurandGenetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France.
Nathalie ForeyGenetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France.
Robert N LubenClinical Gerontology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0002-5088-6343
Shahana AhmedDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Kristiina AittomäkiDepartment of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Hoda Anton-CulverDepartment of Epidemiology, University of California Irvine, Irvine, California, USA.
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Australian Ovarian Cancer Study Group
Caroline BaynesDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Matthias W BeckmanDepartment of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Javier BenitezHuman Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain.
David Van Den BergDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
William J BlotInternational Epidemiology Institute, Rockville, Maryland, USA Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Natalia V BogdanovaDepartment of Radiation Oncology, Hannover Medical School, Hannover, Germany.
Stig E BojesenCopenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kee Seng ChiaSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.
Ji-Yeob ChoiCancer Research Institute, Seoul National University College of Medicine, Seoul, Korea Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
Don M ConroyDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
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.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Hatef DarabiDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Peter DevileeDepartment of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Mikael ErikssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Peter A FaschingDepartment of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California, Los Angeles, California, USA.
Jonine FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh, UK.
Henrik FlygerDepartment of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Florentia FostiraMolecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research "Demokritos", Athens, Greece.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
Graham G GilesCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Victoria, Australia Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Gord GlendonLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Anna González-NeiraHuman Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.
Pascal GuénelUniversity Paris-Sud, UMRS 1018, Villejuif, France Inserm, CESP Center for research in Epidemiology and Population Health, U1018, Cancer & Environment Group, Villejuif, France.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Steven N HartDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Mikael HartmanSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore Department of Surgery, National University Health System, Singapore, Singapore.
Maartje J HooningDepartment of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands.
Chia-Ni HsiungInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Hidemi ItoDivision of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Aichi, Japan.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Paul A JamesDepartment of Pathology, The University of Melbourne, Melbourne, Victoria, Australia Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Esther M JohnDepartment of Epidemiology, Cancer Prevention Institute of California, Fremont, California, USA Department of Health Research and Policy-Epidemiology, Stanford University School of Medicine, Stanford, California, USA Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California, USA.
Nichola JohnsonBreakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.
Michael JonesDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Maria KabischMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Daehee KangCancer Research Institute, Seoul National University College of Medicine, Seoul, Korea Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea Department of Preventive Medicine, Seoul National University College of Medicine, Seoul National University, Seoul, Korea.
kConFab Investigators
Veli-Matti KosmaInstitute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland.
Vessela KristensenDepartment of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway Faculty of Medicine, K.G. Jebsen Center for Breast Cancer Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway Department of Clinical Molecular Biology (EpiGen), University of Oslo (UiO), Oslo, Norway.
Diether LambrechtsVesalius Research Center, VIB, Leuven, Belgium Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium.
Na LiResearch Division, Peter MacCallum Cancer Centre, East Melbourne, Australia Cancer Biology Research Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Lifepool Investigators
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Artitaya LophatananonDivision of Health Sciences, Warwick Medical school, Warwick University, Coventry, UK.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Arto MannermaaInstitute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland.
Siranoush ManoukianUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Milan, Italy.
Sara MargolinDepartment of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
Keitaro MatsuoDivision of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya, Japan.
Alfons MeindlDivision of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.
Gillian MitchellSir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Australia Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Kenneth MuirDivision of Health Sciences, Warwick Medical school, Warwick University, Coventry, UK Institute of Population Health, University of Manchester, Manchester, UK.
NBCS Investigators
Ines NevelsteenUniversity Hospital Gashuisberg, Leuven, Belgium.
Ans van den OuwelandDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Paolo PeterlongoIFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy.
Sze Yee PhuahBreast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia.
Katri PylkäsLaboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre NordLab, Oulu, Finland Laboratory of Cancer Genetics and Tumor Biology, Cancer Research and Translational Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.
Simone M RowleyResearch Division, Peter MacCallum Cancer Centre, East Melbourne, Australia.
Suleeporn SangrajrangNational Cancer Institute, Bangkok, Thailand.
Rita K SchmutzlerCenter for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Germany Medical Faculty, Center for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, Germany Center for Molecular Medicine Cologne (CMMC), University of Cologne, Germany.
Chen-Yang ShenSchool of Public Health, China Medical University, Taichung, Taiwan Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Melissa C SoutheyDepartment of Pathology, The University of Melbourne, Melbourne, Victoria, Australia.
Harald SurowyMolecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
Anthony SwerdlowDivision of Breast Cancer Research, The Institute of Cancer Research, London, UK Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Soo H TeoBreast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia.
Rob A E M TollenaarDepartment of Surgery, Leiden University Medical Center, Leiden, The Netherlands.
Ian TomlinsonWellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
Diana TorresMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia.
Thérèse TruongUniversity Paris-Sud, UMRS 1018, Villejuif, France Inserm, CESP Center for research in Epidemiology and Population Health, U1018, Cancer & Environment Group, Villejuif, France.
Celine VachonDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Senno VerhoefNetherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
Michelle Wong-BrownDivision of Genetics, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, New South Wales, Australia.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Ying ZhengShanghai Municipal Center for Disease Control and Prevention, Shanghai, China.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Rodney J ScottDivision of Genetics, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, New South Wales, Australia Division of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales, Australia.
Irene L AndrulisLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Ontario, Canada.
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
John L HopperCentre for Epidemiology and Biostatistics, University of Melbourne, Melbourne, Victoria, Australia.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre NordLab, Oulu, Finland Laboratory of Cancer Genetics and Tumor Biology, Cancer Research and Translational Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.
Barbara BurwinkelMolecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
Elinor J SawyerResearch Oncology, Division of Cancer Studies, King's College London, Guy's Hospital, London, UK.
Marjanka K SchmidtNetherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
Anja RudolphDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Hiltrud BrauchGerman Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany University of Tübingen, Tübingen, Germany.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, USA.
Roger L MilneCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Victoria, Australia Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Olivia FletcherBreakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.
Paul D P PharoahDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Ian G CampbellResearch Division, Peter MacCallum Cancer Centre, East Melbourne, Australia Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Australia Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia.
Alison M DunningDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Florence Le Calvez-KelmGenetic Cancer Susceptibility Group, International Agency for Research on Cancer, Lyon, France.
David E GoldgarDepartment of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, USA Cancer Control and Population Sciences, Huntsman Cancer Institute, Salt Lake City, Utah, USA.
Sean V TavtigianDepartment of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Georgia Chenevix-TrenchDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
University of Cambridge · GBThe University of Melbourne · AUGerman Cancer Research Center · DECentre international de recherche sur le cancer · FRInstitute of Cancer Research · GBKarolinska Institutet · SEUniversity of Southern California · USMount Sinai Hospital · CASeoul National University · KRUniversité Paris-Sud · FRLeiden University Medical Center · NLQIMR Berghofer Medical Research Institute · AUUniversity Malaya Medical Centre · MYUniversity of Eastern Finland · FIUniversity of Helsinki · FIUniversity of Utah · USVanderbilt University · USCancer Prevention Institute of California · USCentre for Human Genetics · GBGuy's Hospital · GB

Funding

Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MATTHEW J TYSKA · 1995 to 2026
$172.8M
Southern Community Cohort StudyR01CA092447 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BLOT, WILLIAM J., ZHENG, WEI · 2001 to 2015
$74.0M
UTAH REGIONAL CANCER CENTERP30CA042014 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Jared P Rutter · 1986 to 2026
$72.6M
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
Understanding Population Differences in Cancer: The MEC StudyU01CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HAIMAN, CHRISTOPHER ALAN, LE MARCHAND, LOIC · 2015 to 2025
$37.4M
CALIFORNIA TEACHERS STUDYR01CA077398 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI BERNSTEIN, LESLIE · 1998 to 2014
$29.7M
GENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTSR01CA063464 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2001 to 2005
$23.2M
Multiethnic Cohort Study of Diet and CancerR37CA054281 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI KOLONEL, LAURENCE N. · 2003 to 2012
$23.2M
Breast Cancer Family Registry CohortUM1CA164920 · NCI · CANCER PREVENTION INSTIT OF CALIFORNIA · PI ANDRULIS, IRENE, BUYS, SAUNDRA S · 2012 to 2017
$12.7M
Characterizing Genetic Susceptibility to Breast and Prostate Cancer; the BPC3U01CA098758 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2003 to 2010
$11.0M
Epidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6M
Epidemiological and Clinical Translational Studies Post Genome-Wide AssociationU19CA148537 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI EASTON, DOUGLAS FREDERICK, EELES, ROSALIND · 2010 to 2014
$10.4M
Cancer Research UK 10118Cancer Research UK 10119Cancer Research UK 10124Cancer Research UK 16561Cancer Research UK 16565NCI NIH HHS N01 CN025403NCI NIH HHS P30 CA042014NCI NIH HHS P30 CA068485NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA064277NCI NIH HHS R01 CA077398NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA100374NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA121245NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA132839NCI NIH HHS R01 CA148667NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA192393NCI NIH HHS R37 CA054281NCI NIH HHS R37 CA070867NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA116167NCI NIH HHS U01 CA164973NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS UM1 CA164920NCI NIH HHS UM1 CA182910Wellcome TrustWorld Health Organization 001
6 · The paper itself

Abstract

backgroundBRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in BRIP1 are associated with an increased risk of breast cancer. These studies have led to inclusion of BRIP1 on targeted sequencing panels for breast cancer risk prediction.

methodsWe evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of BRIP1, in 48 144 cases and 43 607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of BRIP1 in 13 213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia.

resultsThe rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75).

conclusionsThese results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels.

Indexed as

Genetic Predisposition to DiseaseMutationAdultAgedBreast NeoplasmsCohort StudiesDNA-Binding ProteinsFanconi Anemia Complementation Group ProteinsFemaleGenetic Association StudiesHumansMiddle AgedRiskRNA HelicasesWhite PeopleBRIP1 protein, humanDNA-Binding ProteinsFanconi Anemia Complementation Group ProteinsRNA HelicasesCancer: breast

Identifiers

PMID26921362
PMCPMC4938802
OpenAlexW2309104237

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