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    NPJ breast cancer. 2019 Nov 1. doi: 10.1038/s41523-019-0127-5. pii: 127. pmc: PMC6825205
    The :p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
    Figlioli G1,  Bogliolo M2,  Catucci I3,  Caleca L4,  Lasheras SV5,  Pujol R6,  Kiiski JI7,  Muranen TA8,  Barnes DR9,  Dennis J10,  Michailidou K11,  Bolla MK12,  Leslie G13,  Aalfs CM14,  Adank MA15,  Adlard J16,  Agata S17,  Cadoo K18,  Agnarsson BA19,  Ahearn T20,  Aittomäki K21,  Ambrosone CB22,  Andrews L23,  Anton-Culver H24,  Antonenkova NN25,  Arndt V26,  Arnold N27,  Aronson KJ28,  Arun BK29,  Asseryanis E30,  Auber B31,  Auvinen P32,  Azzollini J33,  Balmaña J34,  Barkardottir RB35,  Barrowdale D36,  Barwell J37,  Beane Freeman LE38,  Beauparlant CJ39,  Beckmann MW40,  Behrens S41,  Benitez J42,  Berger R43,  Bermisheva M44,  Blanco AM45,  Blomqvist C46,  Bogdanova NV47,  Bojesen A48,  Bojesen SE49,  Bonanni B50,  Borg A51,  Brady AF52,  Brauch H53,  Brenner H54,  Brüning T55,  Burwinkel B56,  Buys SS57,  Caldés T58,  Caliebe A59,  Caligo MA60,  Campa D61,  Campbell IG62,  Canzian F63,  Castelao JE64,  Chang-Claude J65,  Chanock SJ66,  Claes KBM67,  Clarke CL68,  Collavoli A69,  Conner TA70,  Cox DG71,  Cybulski C72,  Czene K73,  Daly MB74,  de la Hoya M75,  Devilee P76,  Diez O77,  Ding YC78,  Dite GS79,  Ditsch N80,  Domchek SM81,  Dorfling CM82,  Dos-Santos-Silva I83,  Durda K84,  Dwek M85,  Eccles DM86,  Ekici AB87,  Eliassen AH88,  Ellberg C89,  Eriksson M90,  Evans DG91,  Fasching PA92,  Figueroa J93,  Flyger H94,  Foulkes WD95,  Friebel TM96,  Friedman E97,  Gabrielson M98,  Gaddam P99,  Gago-Dominguez M100,  Gao C101,  Gapstur SM102,  Garber J103,  García-Closas M104,  García-Sáenz JA105,  Gaudet MM106,  Gayther SA107,  Giles GG108,  Glendon G109,  Godwin AK110,  Goldberg MS111,  Goldgar DE112,  Guénel P113,  Gutierrez-Barrera AM114,  Haeberle L115,  Haiman CA116,  Håkansson N117,  Hall P118,  Hamann U119,  Harrington PA120,  Hein A121,  Heyworth J122,  Hillemanns P123,  Hollestelle A124,  Hopper JL125,  Hosgood HD126,  Howell A127,  Hu C128,  Hulick PJ129,  Hunter DJ130,  Imyanitov EN131,  Isaacs C132,  Jakimovska M133,  Jakubowska A134,  James P135,  Janavicius R136,  Janni W137,  John EM138,  Jones ME139,  Jung A140,  Kaaks R141,  Karlan BY142,  Khusnutdinova E143,  Kitahara CM144,  Konstantopoulou I145,  Koutros S146,  Kraft P147,  Lambrechts D148,  Lazaro C149,  Le Marchand L150,  Lester J151,  Lesueur F152,  Lilyquist J153,  Loud JT154,  Lu KH155,  Luben RN156,  Lubinski J157,  Mannermaa A158,  Manoochehri M159,  Manoukian S160,  Margolin S161,  Martens JWM162,  Maurer T163,  Mavroudis D164,  Mebirouk N165,  Meindl A166,  Menon U167,  Miller A168,  Montagna M169,  Nathanson KL170,  Neuhausen SL171,  Newman WG172,  Nguyen-Dumont T173,  Nielsen FC174,  Nielsen S175,  Nikitina-Zake L176,  Offit K177,  Olah E178,  Olopade OI179,  Olshan AF180,  Olson JE181,  Olsson H182,  Osorio A183,  Ottini L184,  Peissel B185,  Peixoto A186,  Peto J187,  Plaseska-Karanfilska D188,  Pocza T189,  Presneau N190,  Pujana MA191,  Punie K192,  Rack B193,  Rantala J194,  Rashid MU195,  Rau-Murthy R196,  Rennert G197,  Lejbkowicz F198,  Rhenius V199,  Romero A200,  Rookus MA201,  Ross EA202,  Rossing M203,  Rudaitis V204,  Ruebner M205,  Saloustros E206,  Sanden K207,  Santamariña M208,  Scheuner MT209,  Schmutzler RK210,  Schneider M211,  Scott C212,  Senter L213,  Shah M214,  Sharma P215,  Shu XO216,  Simard J217,  Singer CF218,  Sohn C219,  Soucy P220,  Southey MC221,  Spinelli JJ222,  Steele L223,  Stoppa-Lyonnet D224,  Tapper WJ225,  Teixeira MR226,  Terry MB227,  Thomassen M228,  Thompson J229,  Thull DL230,  Tischkowitz M231,  Tollenaar RAEM232,  Torres D233,  Troester MA234,  Truong T235,  Tung N236,  Untch M237,  Vachon CM238,  van Rensburg EJ239,  van Veen EM240,  Vega A241,  Viel A242,  Wappenschmidt B243,  Weitzel JN244,  Wendt C245,  Wieme G246,  Wolk A247,  Yang XR248,  Zheng W249,  Ziogas A250,  Zorn KK251,  Dunning AM252,  Lush M253,  Wang Q254,  McGuffog L255,  Parsons MT256,  Pharoah PDP257,  Fostira F258,  Toland AE259,  Andrulis IL260,  Ramus SJ261,  Swerdlow AJ262,  Greene MH263,  Chung WK264,  Milne RL265,  Chenevix-Trench G266,  Dörk T267,  Schmidt MK268,  Easton DF269,  Radice P270,  Hahnen E271,  Antoniou AC272,  Couch FJ273,  Nevanlinna H274,  Surrallés J275,  Peterlongo P276
    Collaborators
    Balleine R Baxter R Braye S Carpenter J Dahlstrom J Forbes J Lee CS Marsh D Morey A Pathmanathan N Scott R Simpson P Spigelman A Wilcken N Yip D Zeps N Belotti M Bertrand O Birot AM Buecher B Caputo S Dupré A Fourme E Gauthier-Villars M Golmard L Le Mentec M Moncoutier V de Pauw A Saule C Boutry-Kryza N Calender A Giraud S Léone M Bressac-de-Paillerets B Caron O Guillaud-Bataille M Bignon YJ Uhrhammer N Bonadona V Lasset C Berthet P Castera L Vaur D Bourdon V Noguès C Noguchi T Popovici C Remenieras A Sobol H Coupier I Pujol P Adenis C Dumont A Révillion F Muller D Barouk-Simonet E Bonnet F Bubien V Longy M Sevenet N Gladieff L Guimbaud R Feillel V Toulas C Dreyfus H Leroux CD Peysselon M Rebischung C Legrand C Baurand A Bertolone G Coron F Faivre L Jacquot C Lizard S Kientz C Lebrun M Prieur F Fert-Ferrer S Mari V Vénat-Bouvet L Bézieau S Delnatte C Mortemousque I Colas C Coulet F Soubrier F Warcoin M Bronner M Sokolowska J Collonge-Rame MA Damette A Gesta P Lallaoui H Chiesa J Molina-Gomes D Ingster O Manouvrier-Hanu S Lejeune S Aghmesheh M Greening S Amor D Gattas M Botes L Buckley M Friedlander M Koehler J Meiser B Saleh M Salisbury E Trainer A Tucker K Antill Y Dobrovic A Fellows A Fox S Harris M Nightingale S Phillips K Sambrook J Thorne H Armitage S Arnold L Balleine R Kefford R Kirk J Rickard E Bastick P Beesley J Hayward N Spurdle A Walker L Beilby J Saunders C Bennett I Blackburn A Bogwitz M Gaff C Lindeman G Pachter N Scott C Sexton A Visvader J Taylor J Winship I Brennan M Brown M French J Edwards S Burgess M Burke J Patterson B Butow P Culling B Caldon L Callen D Chauhan D Eisenbruch M Heiniger L Chauhan M Christian A Dixon J Kidd A Cohen P Colley A Fenton G Crook A Dickson R Field M Marsh D Cui J Cummings M Dawson SJ DeFazio A Delatycki M Dudding T Edkins T Farshid G Flanagan J Fong P Forrest L Gallego-Ortega D George P Gill G Kollias J Haan E Hart S Jenkins M Hunt C Lakhani S Lipton L Lobb L Mann G McLachlan SA O'Connell S O'Sullivan S Pieper E Robinson B Saunus J Scott E Scott R Shelling A Simpson P Williams R Young MA
    Author information
    1IFOM - the FIRC Institute for Molecular Oncology, Genome Diagnostics Program, Milan, Italy.
    22Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra, Barcelona Spain.
    3IFOM - the FIRC Institute for Molecular Oncology, Genome Diagnostics Program, Milan, Italy.
    4Fondazione IRCCS Istituto Nazionale dei Tumori, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Milan, Italy.
    52Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra, Barcelona Spain.
    62Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra, Barcelona Spain.
    7University of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland.
    8University of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland.
    97University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
    107University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
    117University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
    127University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
    137University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
    149Amsterdam UMC, lokatie AMC, Department of Clinical Genetics, Amsterdam, The Netherlands.
    15The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Family Cancer Clinic, Amsterdam, The Netherlands.
    16Chapel Allerton Hospital, Yorkshire Regional Genetics Service, Leeds, UK.
    17Veneto Institute of Oncology IOV - IRCCS, Immunology and Molecular Oncology Unit, Padua, Italy.
    18Memorial Sloan-Kettering Cancer Center, Department of Medicine, New York, NY USA.
    19Landspitali University Hospital, Department of Pathology, Reykjavik, Iceland.
    2016National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD USA.
    2117University of Helsinki, Department of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland.
    2218Roswell Park Cancer Institute, Buffalo, NY USA.
    23Nelune Comprehensive Cancer Care Centre, The Bright Alliance Building, Randwick, NSW Australia.
    2420University of California Irvine, Department of Epidemiology, Genetic Epidemiology Research Institute, Irvine, CA USA.
    25N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
    26German Cancer Research Center (DKFZ), Division of Clinical Epidemiology and Aging Research, Heidelberg, Germany.
    27University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Department of Gynaecology and Obstetrics, and Institute of Clinical Molecular Biology, Kiel, Germany.
    28Queen's University, Department of Public Health Sciences, and Cancer Research Institute, Kingston, ON Canada.
    2925University of Texas MD Anderson Cancer Center, Department of Breast Medical Oncology, Houston, TX USA.
    3026Medical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center, Vienna, Austria.
    3127Hannover Medical School, Institute of Human Genetics, Hannover, Germany.
    3228Kuopio University Hospital, Cancer Center, Kuopio, Finland.
    3331Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Department of Medical Oncology and Hematology, Unit of Medical Genetics, Milan, Italy.
    3432Vall d'Hebron Institute of Oncology, High Risk and Cancer Prevention Group, Barcelona, Spain.
    35Landspitali University Hospital, Department of Pathology, Reykjavik, Iceland.
    367University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
    3735University Hospitals of Leicester NHS Trust, Leicestershire Clinical Genetics Service, Leicester, UK.
    3816National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD USA.
    3936Centre Hospitalier Universitaire de Québec - Université Laval, Research Center, Genomics Center, Québec City, QC Canada.
    40University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, Erlangen, Germany.
    41German Cancer Research Center (DKFZ), Division of Cancer Epidemiology, Heidelberg, Germany.
    42Spanish National Cancer Research Centre (CNIO), Human Genetics Group, Human Cancer Genetics Programme, Madrid, Spain.
    43Chaim Sheba Medical Center, The Institute of Oncology, Ramat Gan, Israel.
    4443Ufa Federal Research Center of the Russian Academy of Sciences, Institute of Biochemistry and Genetics, Ufa, Russia.
    4544University of California San Francisco, Cancer Genetics and Prevention Program, San Francisco, CA USA.
    46University of Helsinki, Department of Oncology, Helsinki University Hospital, Helsinki, Finland.
    47N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
    4849Aarhus University Hospital, Department of Clinical Genetics, Aarhus, Denmark.
    49Copenhagen University Hospital, Copenhagen General Population Study, Herlev and Gentofte Hospital, Herlev, Denmark.
    5053IEO, European Institute of Oncology IRCCS, Division of Cancer Prevention and Genetics, Milan, Italy.
    5154Lund University and Skåne University Hospital, Department of Oncology, Lund, Sweden.
    5255London North West University Hospitals NHS Trust, Northwick Park Hospital, North West Thames Regional Genetics Service, Kennedy Galton Centre, Harrow, UK.
    5356Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
    54German Cancer Research Center (DKFZ), Division of Clinical Epidemiology and Aging Research, Heidelberg, Germany.
    5560Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum, Bochum, Germany.
    5661German Cancer Research Center (DKFZ), Molecular Epidemiology Group, C080 Heidelberg, Germany.
    5763Huntsman Cancer Institute, Department of Medicine, Salt Lake City, UT USA.
    5864Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Medical Oncology Department, Hospital Clínico San Carlos, Madrid, Spain.
    59University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Institute of Human Genetics, Kiel, Germany.
    6066University Hospital of Pisa, Section of Molecular Genetics, Dept. of Laboratory Medicine, Pisa, Italy.
    61German Cancer Research Center (DKFZ), Division of Cancer Epidemiology, Heidelberg, Germany.
    6268Peter MacCallum Cancer Center, Research Division, Melbourne, VIC Australia.
    6370German Cancer Research Center (DKFZ), Genomic Epidemiology Group, Heidelberg, Germany.
    64Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Oncology and Genetics Unit, Vigo, Spain.
    65German Cancer Research Center (DKFZ), Division of Cancer Epidemiology, Heidelberg, Germany.
    6616National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD USA.
    6773Ghent University, Centre for Medical Genetics, Gent, Belgium.
    6874University of Sydney, Westmead Institute for Medical Research, Sydney, NSW Australia.
    69University and University Hospital of Pisa, Section of Genetic Oncology, Dept. of Laboratory Medicine, Pisa, Italy.
    7076Huntsman Cancer Institute, Salt Lake City, UT USA.
    7177Imperial College London, Department of Epidemiology and Biostatistics, School of Public Health, London, UK.
    7279Pomeranian Medical University, Department of Genetics and Pathology, Szczecin, Poland.
    7380Karolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm, Sweden.
    7481Fox Chase Cancer Center, Department of Clinical Genetics, Philadelphia, PA USA.
    7564Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Medical Oncology Department, Hospital Clínico San Carlos, Madrid, Spain.
    7682Leiden University Medical Center, Department of Pathology, Leiden, The Netherlands.
    7784Vall d'Hebron Institute of Oncology (VHIO), Oncogenetics Group, Barcelona, Spain.
    7886Beckman Research Institute of City of Hope, Department of Population Sciences, Duarte, CA USA.
    7987The University of Melbourne, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Melbourne, Victoria, Australia.
    8088Ludwig Maximilian University of Munich, Department of Gynecology and Obstetrics, Munich, Germany.
    81Perelman School of Medicine at the University of Pennsylvania, Department of Medicine, Abramson Cancer Center, Philadelphia, PA USA.
    8290University of Pretoria, Department of Genetics, Arcadia, South Africa.
    8391London School of Hygiene and Tropical Medicine, Department of Non-Communicable Disease Epidemiology, London, UK.
    8479Pomeranian Medical University, Department of Genetics and Pathology, Szczecin, Poland.
    8592University of Westminster, Department of Biomedical Sciences, Faculty of Science and Technology, London, UK.
    8693University of Southampton, Cancer Sciences Academic Unit, Faculty of Medicine, Southampton, UK.
    87Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Institute of Human Genetics, University Hospital Erlangen, Erlangen, Germany.
    8895Harvard Medical School, Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA USA.
    8997Lund University, Department of Cancer Epidemiology, Clinical Sciences, Lund, Sweden.
    9080Karolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm, Sweden.
    9198University of Manchester, Division of Evolution and Genomic Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester, UK.
    92University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, Erlangen, Germany.
    9316National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD USA.
    94Copenhagen University Hospital, Department of Breast Surgery, Herlev and Gentofte Hospital, Herlev, Denmark.
    95104McGill University, Program in Cancer Genetics, Departments of Human Genetics and Oncology, Montréal, QC Canada.
    96105Harvard T.H. Chan School of Public Health, Boston, MA USA.
    97107Chaim Sheba Medical Center, The Susanne Levy Gertner Oncogenetics Unit, Ramat Gan, Israel.
    9880Karolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm, Sweden.
    99109Memorial Sloan-Kettering Cancer Center, Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, New York, NY USA.
    100110Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Genomic Medicine Group, Galician Foundation of Genomic Medicine, Santiago de Compostela, Spain.
    101112Harvard T.H. Chan School of Public Health, Program in Genetic Epidemiology and Statistical Genetics, Boston, MA USA.
    102113American Cancer Society, Epidemiology Research Program, Atlanta, GA USA.
    103Dana-Farber Cancer Institute, Cancer Risk and Prevention Clinic, Boston, MA USA.
    10416National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD USA.
    10564Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Medical Oncology Department, Hospital Clínico San Carlos, Madrid, Spain.
    106113American Cancer Society, Epidemiology Research Program, Atlanta, GA USA.
    107116Cedars-Sinai Medical Center, The Center for Bioinformatics and Functional Genomics at the Samuel Oschin Comprehensive Cancer Institute, Los Angeles, CA USA.
    10887The University of Melbourne, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Melbourne, Victoria, Australia.
    109119Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON Canada.
    110120Kansas University Medical Center, Department of Pathology and Laboratory Medicine, Kansas City, KS USA.
    111121McGill University, Department of Medicine, Montréal, QC Canada.
    112123Huntsman Cancer Institute, University of Utah School of Medicine, Department of Dermatology, Salt Lake City, UT USA.
    113124INSERM, University Paris-Sud, University Paris-Saclay, Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), Villejuif, France.
    114125University of Texas MD Anderson Cancer Center, Department of Breast Medical Oncology and Clinical Genetics Program, Houston, TX USA.
    115126Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Department of Gynaecology and Obstetrics, University Hospital Erlangen, Erlangen, Germany.
    116127University of Southern California, Department of Preventive Medicine, Keck School of Medicine, Los Angeles, CA USA.
    117128Karolinska Institutet, Institute of Environmental Medicine, Stockholm, Sweden.
    11880Karolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm, Sweden.
    119German Cancer Research Center (DKFZ), Molecular Genetics of Breast Cancer, Heidelberg, Germany.
    120131University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK.
    121University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, Erlangen, Germany.
    122132The University of Western Australia, School of Population and Global Health, Perth, WA Australia.
    123Hannover Medical School, Gynaecology Research Unit, Hannover, Germany.
    124133Erasmus MC Cancer Institute, Department of Medical Oncology, Family Cancer Clinic, Rotterdam, The Netherlands.
    12587The University of Melbourne, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Melbourne, Victoria, Australia.
    126134Albert Einstein College of Medicine, Department of Epidemiology and Public Health, Bronx, NY USA.
    127135University of Manchester, Division of Cancer Sciences, Manchester, UK.
    128136Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN USA.
    129137NorthShore University HealthSystem, Center for Medical Genetics, Evanston, IL USA.
    13096Harvard T.H. Chan School of Public Health, Department of Epidemiology, Boston, MA USA.
    131140N.N. Petrov Institute of Oncology, St. Petersburg, Russia.
    132141Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC USA.
    133142Macedonian Academy of Sciences and Arts, Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Skopje, Republic of Macedonia.
    13479Pomeranian Medical University, Department of Genetics and Pathology, Szczecin, Poland.
    13569The University of Melbourne, Sir Peter MacCallum Department of Oncology, Melbourne, VIC Australia.
    136145Vilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Dept. of Molecular and Regenerative Medicine, Vilnius, Lithuania.
    137147University Hospital Ulm, Department of Gynaecology and Obstetrics, Ulm, Germany.
    138148Stanford University School of Medicine, Department of Medicine (Oncology) and Stanford Cancer Institute, Stanford, CA USA.
    139115The Institute of Cancer Research, Division of Genetics and Epidemiology, London, UK.
    140German Cancer Research Center (DKFZ), Division of Cancer Epidemiology, Heidelberg, Germany.
    141German Cancer Research Center (DKFZ), Division of Cancer Epidemiology, Heidelberg, Germany.
    142149Cedars-Sinai Medical Center, Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Los Angeles, CA USA.
    14343Ufa Federal Research Center of the Russian Academy of Sciences, Institute of Biochemistry and Genetics, Ufa, Russia.
    144151National Cancer Institute, Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, Bethesda, MD USA.
    145152National Centre for Scientific Research 'Demokritos', Molecular Diagnostics Laboratory, INRASTES, Athens, Greece.
    14616National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD USA.
    14796Harvard T.H. Chan School of Public Health, Department of Epidemiology, Boston, MA USA.
    148153VIB, VIB Center for Cancer Biology, Leuven, Belgium.
    149IDIBELL (Bellvitge Biomedical Research Institute),Catalan Institute of Oncology, CIBERONC, Molecular Diagnostic Unit, Hereditary Cancer Program, Barcelona, Spain.
    150156University of Hawaii Cancer Center, Epidemiology Program, Honolulu, HI USA.
    151149Cedars-Sinai Medical Center, Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Los Angeles, CA USA.
    152Inserm U900, Genetic Epidemiology of Cancer team, Paris, France.
    153161Mayo Clinic, Department of Health Sciences Research, Rochester, MN USA.
    154162National Cancer Institute, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Bethesda, MD USA.
    155163University of Texas MD Anderson Cancer Center, Department of Gynecologic Oncology and Clinical Cancer Genetics Program, Houston, TX USA.
    156164University of Cambridge, Clinical Gerontology, Department of Public Health and Primary Care, Cambridge, UK.
    15779Pomeranian Medical University, Department of Genetics and Pathology, Szczecin, Poland.
    15830University of Eastern Finland, Translational Cancer Research Area, Kuopio, Finland.
    159German Cancer Research Center (DKFZ), Molecular Genetics of Breast Cancer, Heidelberg, Germany.
    16031Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Department of Medical Oncology and Hematology, Unit of Medical Genetics, Milan, Italy.
    161129Södersjukhuset, Department of Oncology, Stockholm, Sweden.
    162133Erasmus MC Cancer Institute, Department of Medical Oncology, Family Cancer Clinic, Rotterdam, The Netherlands.
    16372University Medical Center Hamburg-Eppendorf, Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH), Hamburg, Germany.
    164168University Hospital of Heraklion, Department of Medical Oncology, Heraklion, Greece.
    165Inserm U900, Genetic Epidemiology of Cancer team, Paris, France.
    16688Ludwig Maximilian University of Munich, Department of Gynecology and Obstetrics, Munich, Germany.
    167University College London, MRC Clinical Trials Unit at UCL, Institute of Clinical Trials & Methodology, London, UK.
    168Roswell Park Cancer Institute, NRG Oncology, Clinical Trials Development Division, Buffalo, NY USA.
    169Veneto Institute of Oncology IOV - IRCCS, Immunology and Molecular Oncology Unit, Padua, Italy.
    170Perelman School of Medicine at the University of Pennsylvania, Department of Medicine, Abramson Cancer Center, Philadelphia, PA USA.
    17186Beckman Research Institute of City of Hope, Department of Population Sciences, Duarte, CA USA.
    17298University of Manchester, Division of Evolution and Genomic Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester, UK.
    173171Monash University, Precision Medicine, School of Clinical Sciences at Monash Health, Clayton, VIC Australia.
    174Rigshospitalet, Copenhagen University Hospital, Center for Genomic Medicine, Copenhagen, Denmark.
    175The University of Chicago, Center for Clinical Cancer Genetics, Chicago, IL USA.
    176174Latvian Biomedical Research and Study Centre, Riga, Latvia.
    177109Memorial Sloan-Kettering Cancer Center, Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, New York, NY USA.
    178176National Institute of Oncology, Department of Molecular Genetics, Budapest, Hungary.
    179The University of Chicago, Center for Clinical Cancer Genetics, Chicago, IL USA.
    180177University of North Carolina at Chapel Hill, Department of Epidemiology, Lineberger Comprehensive Cancer Center, Chapel Hill, NC USA.
    181161Mayo Clinic, Department of Health Sciences Research, Rochester, MN USA.
    18297Lund University, Department of Cancer Epidemiology, Clinical Sciences, Lund, Sweden.
    183Spanish National Cancer Research Centre (CNIO), Human Genetics Group, Human Cancer Genetics Programme, Madrid, Spain.
    184178University La Sapienza, Department of Molecular Medicine, Rome, Italy.
    18531Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Department of Medical Oncology and Hematology, Unit of Medical Genetics, Milan, Italy.
    186179Portuguese Oncology Institute, Department of Genetics, Porto, Portugal.
    18791London School of Hygiene and Tropical Medicine, Department of Non-Communicable Disease Epidemiology, London, UK.
    188142Macedonian Academy of Sciences and Arts, Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Skopje, Republic of Macedonia.
    189176National Institute of Oncology, Department of Molecular Genetics, Budapest, Hungary.
    19092University of Westminster, Department of Biomedical Sciences, Faculty of Science and Technology, London, UK.
    191IDIBELL (Bellvitge Biomedical Research Institute),Catalan Institute of Oncology, CIBERONC, ProCURE, Oncobell, Barcelona, Spain.
    192181Leuven Cancer Institute, University Hospitals Leuven, Multidisciplinary Breast Center, Department of General Medical Oncology, Leuven, Belgium.
    193147University Hospital Ulm, Department of Gynaecology and Obstetrics, Ulm, Germany.
    194182Karolinska Institutet, Clinical Genetics, Stockholm, Sweden.
    195German Cancer Research Center (DKFZ), Molecular Genetics of Breast Cancer, Heidelberg, Germany.
    196175Memorial Sloan-Kettering Cancer Center, Clinical Genetics Service, Department of Medicine, New York, NY USA.
    197184Carmel Medical Center and Technion Faculty of Medicine, Clalit National Cancer Control Center, Haifa, Israel.
    198184Carmel Medical Center and Technion Faculty of Medicine, Clalit National Cancer Control Center, Haifa, Israel.
    199131University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK.
    200185Hospital Universitario Puerta de Hierro, Medical Oncology Department, Madrid, Spain.
    201186The Netherlands Cancer Institute, Department of Epidemiology, Amsterdam, The Netherlands.
    202187Fox Chase Cancer Center, Biostatistics and Bioinformatics Facility, Philadelphia, PA USA.
    203Rigshospitalet, Copenhagen University Hospital, Center for Genomic Medicine, Copenhagen, Denmark.
    204188Vilnius University, Medical Faculty, Institute of Clinical Medicine, Vilnius, Lithuania.
    205126Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Department of Gynaecology and Obstetrics, University Hospital Erlangen, Erlangen, Germany.
    206189University Hospital of Larissa, Department of Oncology, Larissa, Greece.
    207190University of Wisconsin, Cancer Center at ProHealth Care, Waukesha, WI USA.
    20840Spanish Network on Rare Diseases (CIBERER), Madrid, Spain.
    20944University of California San Francisco, Cancer Genetics and Prevention Program, San Francisco, CA USA.
    210193University Hospital of Cologne, Center for Hereditary Breast and Ovarian Cancer, Cologne, Germany.
    211126Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Department of Gynaecology and Obstetrics, University Hospital Erlangen, Erlangen, Germany.
    212161Mayo Clinic, Department of Health Sciences Research, Rochester, MN USA.
    213195The Ohio State University, Clinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, Columbus, OH USA.
    214131University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK.
    215196University of Kansas Medical Center, Department of Internal Medicine, Division of Oncology, Westwood, KS USA.
    216Vanderbilt University School of Medicine, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Nashville, TN USA.
    21736Centre Hospitalier Universitaire de Québec - Université Laval, Research Center, Genomics Center, Québec City, QC Canada.
    21826Medical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center, Vienna, Austria.
    219University of Heidelberg, National Center for Tumor Diseases, Heidelberg, Germany.
    22036Centre Hospitalier Universitaire de Québec - Université Laval, Research Center, Genomics Center, Québec City, QC Canada.
    221171Monash University, Precision Medicine, School of Clinical Sciences at Monash Health, Clayton, VIC Australia.
    222BC Cancer, Population Oncology, Vancouver, BC Canada.
    22386Beckman Research Institute of City of Hope, Department of Population Sciences, Duarte, CA USA.
    224202Institut Curie, Service de Génétique, Paris, France.
    225205University of Southampton, Faculty of Medicine, Southampton, UK.
    226179Portuguese Oncology Institute, Department of Genetics, Porto, Portugal.
    227207Columbia University, Department of Epidemiology, Mailman School of Public Health, New York, NY USA.
    228208Odense University Hospital, Department of Clinical Genetics, Odence C, Denmark.
    229137NorthShore University HealthSystem, Center for Medical Genetics, Evanston, IL USA.
    230Magee-Womens Hospital, University of Pittsburgh School of Medicine, Department of Medicine, Pittsburgh, PA USA.
    231104McGill University, Program in Cancer Genetics, Departments of Human Genetics and Oncology, Montréal, QC Canada.
    232211Leiden University Medical Center, Department of Surgery, Leiden, The Netherlands.
    233German Cancer Research Center (DKFZ), Molecular Genetics of Breast Cancer, Heidelberg, Germany.
    234177University of North Carolina at Chapel Hill, Department of Epidemiology, Lineberger Comprehensive Cancer Center, Chapel Hill, NC USA.
    235124INSERM, University Paris-Sud, University Paris-Saclay, Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), Villejuif, France.
    236213Beth Israel Deaconess Medical Center, Department of Medical Oncology, Boston, MA USA.
    237Helios Clinics Berlin-Buch, Department of Gynecology and Obstetrics, Berlin, Germany.
    238161Mayo Clinic, Department of Health Sciences Research, Rochester, MN USA.
    23990University of Pretoria, Department of Genetics, Arcadia, South Africa.
    24098University of Manchester, Division of Evolution and Genomic Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester, UK.
    24140Spanish Network on Rare Diseases (CIBERER), Madrid, Spain.
    242215Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Division of Functional onco-genomics and genetics, Aviano, Italy.
    243193University Hospital of Cologne, Center for Hereditary Breast and Ovarian Cancer, Cologne, Germany.
    244216City of Hope, Clinical Cancer Genetics, Duarte, CA USA.
    245129Södersjukhuset, Department of Oncology, Stockholm, Sweden.
    24673Ghent University, Centre for Medical Genetics, Gent, Belgium.
    247128Karolinska Institutet, Institute of Environmental Medicine, Stockholm, Sweden.
    24816National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD USA.
    249Vanderbilt University School of Medicine, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Nashville, TN USA.
    25020University of California Irvine, Department of Epidemiology, Genetic Epidemiology Research Institute, Irvine, CA USA.
    251Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA USA.
    252131University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK.
    2537University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
    2547University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
    2557University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
    256219QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology, Brisbane, QLD Australia.
    2577University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
    258152National Centre for Scientific Research 'Demokritos', Molecular Diagnostics Laboratory, INRASTES, Athens, Greece.
    259220The Ohio State University, Department of Cancer Biology and Genetics, Columbus, OH USA.
    260119Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON Canada.
    261222University of NSW Sydney, School of Women's and Children's Health, Faculty of Medicine, Sydney, NSW Australia.
    262The Institute of Cancer Research, Division of Genetics and Epidemiology, London, UK.
    263162National Cancer Institute, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Bethesda, MD USA.
    264226Columbia University, Departments of Pediatrics and Medicine, New York, NY USA.
    26587The University of Melbourne, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Melbourne, Victoria, Australia.
    266219QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology, Brisbane, QLD Australia.
    267Hannover Medical School, Gynaecology Research Unit, Hannover, Germany.
    268227The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Division of Molecular Pathology, Amsterdam, The Netherlands.
    2697University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
    270Fondazione IRCCS Istituto Nazionale dei Tumori, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Milan, Italy.
    271193University Hospital of Cologne, Center for Hereditary Breast and Ovarian Cancer, Cologne, Germany.
    2727University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
    273136Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN USA.
    274University of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland.
    2752Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra, Barcelona Spain.
    276IFOM - the FIRC Institute for Molecular Oncology, Genome Diagnostics Program, Milan, Italy.
    Abstract

    Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes , , , , and are associated with breast cancer risk. , which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants :p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of or . These three variants were also studied functionally by measuring survival and chromosome fragility in patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that :p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44,  = 0.034 and OR = 3.79;  = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for :p.Arg658* and found that also :p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96;  = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with :p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat -associated tumors.


    © The Author(s) 2019.

    KEYWORDS: Cancer genetics

    Publikations ID: 31700994
    Quelle: öffnen
     
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