Evidence map›Paper›PMID 31467304›Full record

ArticleScientific reports2019

Two truncating variants in FANCC and breast cancer risk.

Thilo Dörk, Paolo Peterlongo, Arto Mannermaa, Manjeet K Bolla, Qin Wang, Joe Dennis, Thomas Ahearn, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt and 162 more

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.5field-weighted citation impact, top 27% 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

7 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Double jeopardy: howFrontiers in cell and developmental biology · 2026
    Review
  3. PathogenicCurrent issues in molecular biology · 2025
    Article
  4. Article
  5. Article
  6. Article
  7. 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

172 authors at 20 institutions in 28 countries.

Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany. doerk.thilo@mh-hannover.de.
Paolo PeterlongoGenome Diagnostics Program, IFOM - the FIRC Institute of Molecular Oncology, Milan, Italy.
Arto MannermaaTranslational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
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.
Thomas AhearnDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
Irene L AndrulisFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-4226-6435
Hoda Anton-CulverDepartment of Epidemiology, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA.
Volker ArndtDivision of Clinical Epidemiology and Aging Research, C070, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID http://orcid.org/0000-0001-9320-8684
Kristan J AronsonDepartment of Public Health Sciences, and Cancer Research Institute, Queen's University, Kingston, ON, Canada.
Annelie AugustinssonDepartment of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.
Laura E Beane FreemanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
Matthias W BeckmannDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
Alicia Beeghly-FadielDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
Sabine BehrensDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Marina BermishevaInstitute of Biochemistry and Genetics of the Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Carl BlomqvistDepartment of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Natalia V BogdanovaGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Stig E BojesenCopenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Hiltrud BrauchDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.ORCID http://orcid.org/0000-0001-7531-2736
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, C070, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Barbara BurwinkelMolecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Federico CanzianGenomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Tsun L ChanHong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Centre, Happy Valley, Hong Kong.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
Ji-Yeob ChoiDepartment of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea.
Hans ChristiansenDepartment of Radiation Oncology, Hannover Medical School, Hannover, Germany.
Christine L ClarkeWestmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Mary B DalyDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, USA.
Isabel Dos-Santos-SilvaDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
Miriam DwekDepartment of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, UK.ORCID http://orcid.org/0000-0001-7184-2932
Diana M EcclesCancer Sciences Academic Unit, Faculty of Medicine, University of Southampton, Southampton, UK.
Arif B EkiciInstitute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.ORCID http://orcid.org/0000-0001-6099-7066
Mikael ErikssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
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, UK.
Peter A FaschingDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.ORCID http://orcid.org/0000-0003-4885-8471
Jonine FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-5100-623X
Henrik FlygerDepartment of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Lin FritschiSchool of Public Health, Curtin University, Perth, Western Australia, Australia.
Marike GabrielsonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Manuela Gago-DominguezGenomic Medicine Group, Galician Foundation of Genomic Medicine, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain.
Chi GaoProgram in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Susan M GapsturBehavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA, USA.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
José A García-SáenzMedical Oncology Department, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Mia M GaudetBehavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA, USA.
Graham G GilesCancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
Mark S GoldbergDepartment of Medicine, McGill University, Montréal, QC, Canada.
David E GoldgarDepartment of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
Pascal GuénelCancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France.
Lothar HaeberleDepartment of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Niclas HåkanssonInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Mikael HartmanSaw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.
Jan HaukeCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Alexander HeinDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.ORCID http://orcid.org/0000-0003-2601-3398
Peter HillemannsGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Frans B L HogervorstFamily Cancer Clinic, The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
Maartje J HooningDepartment of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Tony HowellDivision of Cancer Sciences, University of Manchester, Manchester, UK.
Dezheng HuoCenter for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, USA.
Hidemi ItoDivision of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.ORCID http://orcid.org/0000-0002-8023-4581
Motoki IwasakiDivision of Epidemiology, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Wolfgang JanniDepartment of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Esther M JohnDepartment of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA.
Audrey JungDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Rudolf KaaksDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Daehee KangDepartment of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea.
Pooja Middha KapoorDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Elza KhusnutdinovaInstitute of Biochemistry and Genetics of the Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Sung-Won KimDepartment of Surgery, Daerim Saint Mary's Hospital, Seoul, Korea.
Cari M KitaharaRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Stella KoutrosDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
Peter KraftProgram in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Vessela N KristensenDepartment of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway.
Ava KwongHong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Centre, Happy Valley, Hong Kong.
Diether LambrechtsVIB Center for Cancer Biology, VIB, Leuven, Belgium.
Loic Le MarchandEpidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, USA.
Jingmei LiHuman Genetics Division, Genome Institute of Singapore, Singapore, Singapore.
Sara LindströmDepartment of Epidemiology, University of Washington School of Public Health, Seattle, WA, USA.
Martha LinetRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Wing-Yee LoDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
Jirong LongDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, 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, UK.
Jan LubińskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Mehdi ManoochehriMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Siranoush ManoukianUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
Sara MargolinDepartment of Oncology, Södersjukhuset, Stockholm, Sweden.
Elena MartinezMoores Cancer Center, University of California San Diego, La Jolla, CA, USA.
Keitaro MatsuoDivision of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.ORCID http://orcid.org/0000-0003-1761-6314
Dimitris MavroudisDepartment of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.
Alfons MeindlDepartment of Gynecology and Obstetrics, Ludwig Maximilian University of Munich, Munich, Germany.
Usha MenonMRC Clinical Trials Unit at UCL, Institute of Clinical Trials & Methodology, University College London, London, UK.ORCID http://orcid.org/0000-0003-3708-1732
Roger L MilneCancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0001-5764-7268
Nur Aishah Mohd TaibBreast Cancer Research Unit, UM Cancer Research Institute, University of Malaya Medical Centre, Kuala Lumpur, Malaysia.
Kenneth MuirDivision of Health Sciences, Warwick Medical School, University of Warwick, Coventry, UK.ORCID http://orcid.org/0000-0001-6429-988X
Anna Marie MulliganDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-0916-2976
Patrick NevenLeuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.
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, UK.ORCID http://orcid.org/0000-0002-6382-4678
Kenneth OffitClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, 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.
Janet E OlsonDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Håkan OlssonDepartment of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.
Sue K ParkDepartment of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea.
Tjoung-Won Park-SimonGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Julian PetoDepartment of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.ORCID http://orcid.org/0000-0002-1685-8912
Dijana Plaseska-KaranfilskaResearch Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.
Esther Pohl-RescignoCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Nadege PresneauDepartment of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, UK.
Brigitte RackDepartment of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.
Muhammad U RashidMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Gad RennertClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.ORCID http://orcid.org/0000-0002-8512-068X
Hedy S RennertClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.
Atocha RomeroMedical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain.ORCID http://orcid.org/0000-0002-1634-7397
Matthias RuebnerDepartment of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Emmanouil SaloustrosDepartment of Oncology, University Hospital of Larissa, Larissa, Greece.
Marjanka K SchmidtDivision of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0002-2228-429X
Rita K SchmutzlerCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Michael O SchneiderDepartment of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
Minouk J SchoemakerDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Christopher ScottDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0003-1340-0647
Chen-Yang ShenInstitute 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, TN, USA.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Québec City, QC, Canada.
Susan SlagerDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Snezhana SmichkoskaSs. Cyril and Methodius University in Skopje, Medical Faculty, University Clinic of Radiotherapy and Oncology, Skopje, Republic of Macedonia.
Melissa C SoutheyPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.
John J SpinelliPopulation Oncology, BC Cancer, Vancouver, BC, Canada.
Jennifer StoneCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0001-5077-0124
Harald SurowyMolecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Anthony J SwerdlowDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Rulla M TamimiProgram in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
William J TapperFaculty of Medicine, University of Southampton, Southampton, UK.
Soo H TeoBreast Cancer Research Unit, UM Cancer Research Institute, University of Malaya Medical Centre, Kuala Lumpur, Malaysia.
Mary Beth TerryDepartment of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA.
Amanda E TolandDepartment of Cancer Biology and Genetics, The Ohio State University, Columbus, OH, USA.
Rob A E M TollenaarDepartment of Surgery, Leiden University Medical Center, Leiden, The Netherlands.
Diana TorresMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Gabriela Torres-MejíaCenter for Population Health Research, National Institute of Public Health, Mexico, 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 TruongCancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France.ORCID http://orcid.org/0000-0002-2943-6786
Shoichiro TsuganeCenter for Public Health Sciences, National Cancer Center, Tokyo, Japan.ORCID http://orcid.org/0000-0003-4105-2774
Michael UntchDepartment of Gynecology and Obstetrics, Helios Clinics Berlin-Buch, Berlin, Germany.
Celine M VachonDepartment of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA.
Ans M W van den OuwelandDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Elke M van VeenDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Joseph VijaiClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
Camilla WendtDepartment of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden.
Alicja WolkInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Jyh-Cherng YuDepartment of Surgery, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
Argyrios ZiogasDepartment of Epidemiology, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA.ORCID http://orcid.org/0000-0003-4529-3727
Elad ZivDepartment of Medicine, Institute for Human Genetics, UCSF Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA.
ABCTB Investigators
NBCS Collaborators
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-6651-7166
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-8494-732X
Detlev SchindlerInstitute of Human Genetics, Biocenter, University of Würzburg, Würzburg, Germany.
Peter DevileeDepartment of Pathology, Leiden University Medical Center, Leiden, The Netherlands.ORCID http://orcid.org/0000-0002-8023-2009
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0003-2444-3247
Oslo University Hospital · NOGerman Cancer Research Center · DEUniversity of Cambridge · GBKarolinska Institutet · SENational Institutes of Health · USUniversitätsklinikum Erlangen · DEManchester Academic Health Science Centre · GBMedizinische Hochschule Hannover · DEThe University of Melbourne · AUThe University of Sydney · AUMayo Clinic in Florida · USVanderbilt University · USSeoul National University · KRUniversity of Cologne · DEAichi Cancer Center · JPAkershus University Hospital · NOAmerican Cancer Society · USCarmel Medical Center · ILFondazione IRCCS Istituto Nazionale dei Tumori · ITHarvard University · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MATTHEW J TYSKA · 1995 to 2026
$172.8M
Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI TWOROGER, SHELLEY S · 2000 to 2019
$77.8M
Tissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KATHERINE A. HOADLEY · 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
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
UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Melissa A. Troester · 2001 to 2026
$36.3M
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
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
Cancer Research UK 10118Cancer Research UK 10119Cancer Research UK 10124Cancer Research UK 14136Cancer Research UK 16561Cancer Research UK 16563Cancer Research UK 19169Cancer 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 C18281/A19169Cancer 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/A19170FIC 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 G0401527Medical Research Council G1000143Medical Research Council MR/M012190/1Medical Research Council MR/N003284/1NCI NIH HHS K05 CA136967NCI NIH HHS K07 CA092044NCI NIH HHS K24 CA169004NCI NIH HHS P01 CA087969NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA068485NCI NIH HHS P50 CA058223NCI NIH HHS P50 CA116201NCI NIH HHS P50 CA125183NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA058860NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA064277NCI NIH HHS R01 CA077398NCI NIH HHS R01 CA089085NCI NIH HHS R01 CA097396NCI NIH HHS R01 CA100374NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA120120NCI NIH HHS R01 CA128931NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA132839NCI NIH HHS R01 CA140286NCI NIH HHS R01 CA148667NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA177150NCI NIH HHS R01 CA192393NCI NIH HHS R03 CA130065NCI NIH HHS R37 CA054281NCI NIH HHS R37 CA070867NCI NIH HHS U01 CA058860NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA116167NCI NIH HHS U01 CA164973NCI 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 CA164973NCI NIH HHS UM1 CA176726NCI NIH HHS UM1 CA182910NCI NIH HHS UM1 CA186107NIEHS NIH HHS P30 ES010126Wellcome Trust 203477/Z/16/Z
6 · The paper itself

Abstract

Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44-1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.

Indexed as

Sequence DeletionBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCase-Control StudiesFanconi AnemiaFanconi Anemia Complementation Group C ProteinFemaleGenetic Predisposition to DiseaseGenetic VariationHumansBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanFANCC protein, humanFanconi Anemia Complementation Group C Protein

Identifiers

PMID31467304
PMCPMC6715680
OpenAlexW2970634756

What OpenQuestion 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 OpenQuestion graph.