The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Boutry-Kryza N.; Rantala J.; Rashid M.U.; Rau-Murthy R.; Rennert G.; Lejbkowicz F.; Rhenius V.; Romero A.; Rookus M.A.; Ross E.A.; Rossing M.; Rudaitis V.; Ruebner M.; Saloustros E.; Sanden K.; Santamarina M.; Scheuner M.T.; Schmutzler R.K.; Schneider M.; Scott C.; Senter L.; Shah M.; Sharma P.; Shu X.-O.; Simard J.; Singer C.F.; Sohn C.; Soucy P.; Southey M.C.; Spinelli J.J.; Steele L.; Stoppa-Lyonnet D.; Tapper W.J.; Teixeira M.R.; Terry M.B.; Thomassen M.; Thompson J.; Thull D.L.; Tischkowitz M.; Tollenaar R.A.E.M.; Torres D.; Troester M.A.; Truong T.; Tung N.; Untch M.; Vachon C.M.; van Rensburg E.J.; van Veen E.M.; Vega A.; Viel A.; Wappenschmidt B.; Weitzel J.N.; Wendt C.; Wieme G.; Wolk A.; Yang X.R.; Zheng W.; Ziogas A.; Zorn K.K.; Dunning A.M.; Lush M.; Wang Q.; McGuffog L.; Parsons M.T.; Pharoah P.D.P.; Fostira F.; Toland A.E.; Andrulis I.L.; Ramus S.J.; Swerdlow A.J.; Greene M.H.; Chung W.K.; Milne R.L.; Chenevix-Trench G.; Dork T.; Schmidt M.K.; Easton D.F.; Radice P.; Hahnen E.; Antoniou A.C.; Couch F.J.; Nevanlinna H.; Surralles J.; Peterlongo P.; Harris M.; Figlioli G.; Bogliolo M.; Catucci I.; Caleca L.; Lasheras S.V.; Pujol R.; Kiiski J.I.; Muranen T.A.; Barnes D.R.; Dennis J.; Michailidou K.; Bolla M.K.; Leslie G.; Aalfs C.M.; Balleine R.; Baxter R.; Braye S.; Carpenter J.; Dahlstrom J.; Forbes J.; Lee C.S.; Marsh D.; Morey A.; Pathmanathan N.; Scott R.; Simpson P.; Spigelman A.; Wilcken N.; Yip D.; Zeps N.; Adank M.A.; Adlard J.; Agata S.; Cadoo K.; Agnarsson B.A.; Ahearn T.; Aittomaki K.; Ambrosone C.B.; Andrews L.; Anton-Culver H.; Antonenkova N.N.; Arndt V.; Arnold N.; Aronson K.J.; Arun B.K.; Asseryanis E.; Auber B.; Auvinen P.; Azzollini J.; Balmana J.; Barkardottir R.B.; Barrowdale D.; Barwell J.; Beane Freeman L.E.; Beauparlant C.J.; Beckmann M.W.; Behrens S.; Benitez J.; Berger R.; Bermisheva M.; Blanco A.M.; Blomqvist C.; Bogdanova N.V.; Bojesen A.; Bojesen S.E.; Bonanni B.; Borg A.; Brady A.F.; Brauch H.; Brenner H.; Bruning T.; Burwinkel B.; Buys S.S.; Caldes T.; Caliebe A.; Caligo M.A.; Campa D.; Campbell I.G.; Canzian F.; Castelao J.E.; Chang-Claude J.; Chanock S.J.; Claes K.B.M.; Clarke C.L.; Collavoli A.; Conner T.A.; Cox D.G.; Cybulski C.; Czene K.; Daly M.B.; de la Hoya M.; Devilee P.; Diez O.; Ding Y.C.; Dite G.S.; Ditsch N.; Domchek S.M.; Dorfling C.M.; dos-Santos-Silva I.; Durda K.; Dwek M.; Eccles D.M.; Ekici A.B.; Eliassen A.H.; Ellberg C.; Eriksson M.; Evans D.G.; Fasching P.A.; Figueroa J.; Flyger H.; Foulkes W.D.; Friebel T.M.; Friedman E.; Gabrielson M.; Gaddam P.; Gago-Dominguez M.; Gao C.; Gapstur S.M.; Garber J.; Garcia-Closas M.; Garcia-Saenz J.A.; Gaudet M.M.; Gayther S.A.; Belotti M.; Bertrand O.; Birot A.-M.; Buecher B.; Caputo S.; Dupre A.; Fourme E.; Gauthier-Villars M.; Golmard L.; Le Mentec M.; Moncoutier V.; de Pauw A.; Saule C.; Calender A.; Giraud S.; Leone M.; Bressac-de-Paillerets B.; Caron O.; Guillaud-Bataille M.; Bignon Y.-J.; Uhrhammer N.; Bonadona V.; Lasset C.; Berthet P.; Castera L.; Vaur D.; Bourdon V.; Nogues C.; Noguchi T.; Popovici C.; Remenieras A.; Sobol H.; Coupier I.; Pujol P.; Adenis C.; Dumont A.; Revillion 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 C.D.; 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.; Venat-Bouvet L.; Bezieau S.; Delnatte C.; Mortemousque I.; Colas C.; Coulet F.; Soubrier F.; Warcoin M.; Bronner M.; Sokolowska J.; Collonge-Rame M.-A.; Damette A.; Gesta P.; Lallaoui H.; Chiesa J.; Molina-Gomes D.; Ingster O.; Manouvrier-Hanu S.; Lejeune S.; Giles G.G.; Glendon G.; Godwin A.K.; Goldberg M.S.; Goldgar D.E.; Guenel P.; Gutierrez-Barrera A.M.; Haeberle L.; Haiman C.A.; Hakansson N.; Hall P.; Hamann U.; Harrington P.A.; Hein A.; Heyworth J.; Hillemanns P.; Hollestelle A.; Hopper J.L.; Hosgood H.D.; Howell A.; Hu C.; Hulick P.J.; Hunter D.J.; Imyanitov E.N.; 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.; Nightingale S.; Phillips K.; Sambrook J.; Thorne H.; Armitage S.; Arnold L.; 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.; 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.; Cui J.; Cummings M.; Dawson S.-J.; 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 S.A.; O'Connell S.; O'Sullivan S.; Pieper E.; Robinson B.; Saunus J.; Scott E.; Shelling A.; Williams R.; Young M.A.; Isaacs C.; Jakimovska M.; Jakubowska A.; James P.; Janavicius R.; Janni W.; John E.M.; Jones M.E.; Jung A.; Kaaks R.; Karlan B.Y.; Khusnutdinova E.; Kitahara C.M.; Konstantopoulou I.; Koutros S.; Kraft P.; Lambrechts D.; Lazaro C.; Le Marchand L.; Lester J.; Lesueur F.; Lilyquist J.; Loud J.T.; Lu K.H.; Luben R.N.; Lubinski J.; Mannermaa A.; Manoochehri M.; Manoukian S.; Margolin S.; Martens J.W.M.; Maurer T.; Mavroudis D.; Mebirouk N.; Meindl A.; Menon U.; Miller A.; Montagna M.; Nathanson K.L.; Neuhausen S.L.; Newman W.G.; Nguyen-Dumont T.; Nielsen F.C.; Nielsen S.; Nikitina-Zake L.; Offit K.; Olah E.; Olopade O.I.; Olshan A.F.; Olson J.E.; Olsson H.; Osorio A.; Ottini L.; Peissel B.; Peixoto A.; Peto J.; Plaseska-Karanfilska D.; Pocza T.; Presneau N.; Pujana M.A.; Punie K.; Rack B.

Please use this identifier to cite or link to this item: https://repository.monashhealth.org/monashhealthjspui/handle/1/27300

Title:	*The FANCM:p.Arg658 truncating variant is associated with risk of triple-negative breast cancer.**
Authors:	Boutry-Kryza N.;Rantala J.;Rashid M.U.;Rau-Murthy R.;Rennert G.;Lejbkowicz F.;Rhenius V.;Romero A.;Rookus M.A.;Ross E.A.;Rossing M.;Rudaitis V.;Ruebner M.;Saloustros E.;Sanden K.;Santamarina M.;Scheuner M.T.;Schmutzler R.K.;Schneider M.;Scott C.;Senter L.;Shah M.;Sharma P.;Shu X.-O.;Simard J.;Singer C.F.;Sohn C.;Soucy P.;Southey M.C.;Spinelli J.J.;Steele L.;Stoppa-Lyonnet D.;Tapper W.J.;Teixeira M.R.;Terry M.B.;Thomassen M.;Thompson J.;Thull D.L.;Tischkowitz M.;Tollenaar R.A.E.M.;Torres D.;Troester M.A.;Truong T.;Tung N.;Untch M.;Vachon C.M.;van Rensburg E.J.;van Veen E.M.;Vega A.;Viel A.;Wappenschmidt B.;Weitzel J.N.;Wendt C.;Wieme G.;Wolk A.;Yang X.R.;Zheng W.;Ziogas A.;Zorn K.K.;Dunning A.M.;Lush M.;Wang Q.;McGuffog L.;Parsons M.T.;Pharoah P.D.P.;Fostira F.;Toland A.E.;Andrulis I.L.;Ramus S.J.;Swerdlow A.J.;Greene M.H.;Chung W.K.;Milne R.L.;Chenevix-Trench G.;Dork T.;Schmidt M.K.;Easton D.F.;Radice P.;Hahnen E.;Antoniou A.C.;Couch F.J.;Nevanlinna H.;Surralles J.;Peterlongo P.;Harris M. ;Figlioli G.;Bogliolo M.;Catucci I.;Caleca L.;Lasheras S.V.;Pujol R.;Kiiski J.I.;Muranen T.A.;Barnes D.R.;Dennis J.;Michailidou K.;Bolla M.K.;Leslie G.;Aalfs C.M.;Balleine R.;Baxter R.;Braye S.;Carpenter J.;Dahlstrom J.;Forbes J.;Lee C.S.;Marsh D.;Morey A.;Pathmanathan N.;Scott R.;Simpson P.;Spigelman A.;Wilcken N.;Yip D.;Zeps N.;Adank M.A.;Adlard J.;Agata S.;Cadoo K.;Agnarsson B.A.;Ahearn T.;Aittomaki K.;Ambrosone C.B.;Andrews L.;Anton-Culver H.;Antonenkova N.N.;Arndt V.;Arnold N.;Aronson K.J.;Arun B.K.;Asseryanis E.;Auber B.;Auvinen P.;Azzollini J.;Balmana J.;Barkardottir R.B.;Barrowdale D.;Barwell J.;Beane Freeman L.E.;Beauparlant C.J.;Beckmann M.W.;Behrens S.;Benitez J.;Berger R.;Bermisheva M.;Blanco A.M.;Blomqvist C.;Bogdanova N.V.;Bojesen A.;Bojesen S.E.;Bonanni B.;Borg A.;Brady A.F.;Brauch H.;Brenner H.;Bruning T.;Burwinkel B.;Buys S.S.;Caldes T.;Caliebe A.;Caligo M.A.;Campa D.;Campbell I.G.;Canzian F.;Castelao J.E.;Chang-Claude J.;Chanock S.J.;Claes K.B.M.;Clarke C.L.;Collavoli A.;Conner T.A.;Cox D.G.;Cybulski C.;Czene K.;Daly M.B.;de la Hoya M.;Devilee P.;Diez O.;Ding Y.C.;Dite G.S.;Ditsch N.;Domchek S.M.;Dorfling C.M.;dos-Santos-Silva I.;Durda K.;Dwek M.;Eccles D.M.;Ekici A.B.;Eliassen A.H.;Ellberg C.;Eriksson M.;Evans D.G.;Fasching P.A.;Figueroa J.;Flyger H.;Foulkes W.D.;Friebel T.M.;Friedman E.;Gabrielson M.;Gaddam P.;Gago-Dominguez M.;Gao C.;Gapstur S.M.;Garber J.;Garcia-Closas M.;Garcia-Saenz J.A.;Gaudet M.M.;Gayther S.A.;Belotti M.;Bertrand O.;Birot A.-M.;Buecher B.;Caputo S.;Dupre A.;Fourme E.;Gauthier-Villars M.;Golmard L.;Le Mentec M.;Moncoutier V.;de Pauw A.;Saule C.;Calender A.;Giraud S.;Leone M.;Bressac-de-Paillerets B.;Caron O.;Guillaud-Bataille M.;Bignon Y.-J.;Uhrhammer N.;Bonadona V.;Lasset C.;Berthet P.;Castera L.;Vaur D.;Bourdon V.;Nogues C.;Noguchi T.;Popovici C.;Remenieras A.;Sobol H.;Coupier I.;Pujol P.;Adenis C.;Dumont A.;Revillion 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 C.D.;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.;Venat-Bouvet L.;Bezieau S.;Delnatte C.;Mortemousque I.;Colas C.;Coulet F.;Soubrier F.;Warcoin M.;Bronner M.;Sokolowska J.;Collonge-Rame M.-A.;Damette A.;Gesta P.;Lallaoui H.;Chiesa J.;Molina-Gomes D.;Ingster O.;Manouvrier-Hanu S.;Lejeune S.;Giles G.G.;Glendon G.;Godwin A.K.;Goldberg M.S.;Goldgar D.E.;Guenel P.;Gutierrez-Barrera A.M.;Haeberle L.;Haiman C.A.;Hakansson N.;Hall P.;Hamann U.;Harrington P.A.;Hein A.;Heyworth J.;Hillemanns P.;Hollestelle A.;Hopper J.L.;Hosgood H.D.;Howell A.;Hu C.;Hulick P.J.;Hunter D.J.;Imyanitov E.N.;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.;Nightingale S.;Phillips K.;Sambrook J.;Thorne H.;Armitage S.;Arnold L.;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.;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.;Cui J.;Cummings M.;Dawson S.-J.;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 S.A.;O'Connell S.;O'Sullivan S.;Pieper E.;Robinson B.;Saunus J.;Scott E.;Shelling A.;Williams R.;Young M.A.;Isaacs C.;Jakimovska M.;Jakubowska A.;James P.;Janavicius R.;Janni W.;John E.M.;Jones M.E.;Jung A.;Kaaks R.;Karlan B.Y.;Khusnutdinova E.;Kitahara C.M.;Konstantopoulou I.;Koutros S.;Kraft P.;Lambrechts D.;Lazaro C.;Le Marchand L.;Lester J.;Lesueur F.;Lilyquist J.;Loud J.T.;Lu K.H.;Luben R.N.;Lubinski J.;Mannermaa A.;Manoochehri M.;Manoukian S.;Margolin S.;Martens J.W.M.;Maurer T.;Mavroudis D.;Mebirouk N.;Meindl A.;Menon U.;Miller A.;Montagna M.;Nathanson K.L.;Neuhausen S.L.;Newman W.G.;Nguyen-Dumont T.;Nielsen F.C.;Nielsen S.;Nikitina-Zake L.;Offit K.;Olah E.;Olopade O.I.;Olshan A.F.;Olson J.E.;Olsson H.;Osorio A.;Ottini L.;Peissel B.;Peixoto A.;Peto J.;Plaseska-Karanfilska D.;Pocza T.;Presneau N.;Pujana M.A.;Punie K.;Rack B.
Institution:	(Figlioli, Catucci, Peterlongo) IFOM - the FIRC Institute for Molecular Oncology, Genome Diagnostics Program, Milan, Italy (Bogliolo, Lasheras, Pujol, Surralles) Department of Genetics and Microbiology, Universitat Autonoma de Barcelona, Bellaterra, Barcelona, Spain (Bogliolo, Pujol, Surralles) Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain (Bogliolo, Pujol, Surralles) Institute of Biomedical Research, Sant Pau Hospital, Barcelona, Spain (Caleca, Radice) Fondazione IRCCS Istituto Nazionale dei Tumori, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Milan, Italy (Kiiski, Muranen, Nevanlinna) University of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland (Barnes, Dennis, Michailidou, Bolla, Leslie, Barrowdale, Lush, Wang, McGuffog, Pharoah, Easton, Antoniou) University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, United Kingdom (Michailidou) The Cyprus Institute of Neurology & Genetics, Department of Electron Microscopy/Molecular Pathology and The Cyprus School of Molecular Medicine, Nicosia, Cyprus (Aalfs) Amsterdam UMC, lokatie AMC, Department of Clinical Genetics, Amsterdam, Netherlands (Adank) The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Family Cancer Clinic, Amsterdam, Netherlands (Adlard) Chapel Allerton Hospital, Yorkshire Regional Genetics Service, Leeds, United Kingdom (Agata, Montagna) Veneto Institute of Oncology IOV - IRCCS, Immunology and Molecular Oncology Unit, Padua, Italy (Cadoo) Memorial Sloan-Kettering Cancer Center, Department of Medicine, New York, NY, United States (Agnarsson, Barkardottir) Landspitali University Hospital, Department of Pathology, Reykjavik, Iceland (Agnarsson) University of Iceland, School of Medicine, Reykjavik, Iceland (Ahearn, Beane Freeman, Chanock, Figueroa, Garcia-Closas, Koutros, Yang) National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD, United States (Aittomaki) University of Helsinki, Department of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland (Ambrosone) Roswell Park Cancer Institute, Buffalo, NY, United States (Andrews) Nelune Comprehensive Cancer Care Centre, The Bright Alliance Building, Randwick, NSW, Australia (Anton-Culver, Ziogas) University of California Irvine, Department of Epidemiology, Genetic Epidemiology Research Institute, Irvine, CA, United States (Antonenkova, Bogdanova) N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus (Arndt, Brenner) German Cancer Research Center (DKFZ), Division of Clinical Epidemiology and Aging Research, Heidelberg, Germany (Arnold) University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Department of Gynaecology and Obstetrics, and Institute of Clinical Molecular Biology, Kiel, Germany (Aronson) Queen's University, Department of Public Health Sciences, and Cancer Research Institute, Kingston, ON, Canada (Arun) University of Texas MD Anderson Cancer Center, Department of Breast Medical Oncology, Houston, TX, United States (Asseryanis, Singer) Medical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center, Vienna, Austria (Auber) Hannover Medical School, Institute of Human Genetics, Hannover, Germany (Auvinen) Kuopio University Hospital, Cancer Center, Kuopio, Finland (Auvinen) University of Eastern Finland, Institute of Clinical Medicine, Oncology, Kuopio, Finland (Auvinen, Mannermaa) University of Eastern Finland, Translational Cancer Research Area, Kuopio, Finland (Azzollini, Manoukian, Peissel) Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Department of Medical Oncology and Hematology, Unit of Medical Genetics, Milan, Italy (Balmana) Vall d'Hebron Institute of Oncology, High Risk and Cancer Prevention Group, Barcelona, Spain (Balmana) University Hospital, Vall d'Hebron, Department of Medical Oncology, Barcelona, Spain (Barkardottir) University of Iceland, BMC (Biomedical Centre), Faculty of Medicine, Reykjavik, Iceland (Barwell) University Hospitals of Leicester NHS Trust, Leicestershire Clinical Genetics Service, Leicester, United Kingdom (Beauparlant, Simard, Soucy) Centre Hospitalier Universitaire de Quebec - Universite Laval, Research Center, Genomics Center, Quebec City, QC, Canada (Beckmann, Fasching, Hein) University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, Erlangen, Germany (Behrens, Campa, Chang-Claude, Jung, Kaaks) German Cancer Research Center (DKFZ), Division of Cancer Epidemiology, Heidelberg, Germany (Benitez, Osorio) Spanish National Cancer Research Centre (CNIO), Human Genetics Group, Human Cancer Genetics Programme, Madrid, Spain (Benitez, Osorio, Santamarina, Vega) Spanish Network on Rare Diseases (CIBERER), Madrid, Spain (Benitez) Spanish National Cancer Research Centre (CNIO), Genotyping Unit (CEGEN), Human Cancer Genetics Programme, Madrid, Spain (Berger) Chaim Sheba Medical Center, The Institute of Oncology, Ramat Gan, Israel (Bermisheva, Khusnutdinova) Ufa Federal Research Center of the Russian Academy of Sciences, Institute of Biochemistry and Genetics, Ufa, Russian Federation (Blanco, Scheuner) University of California San Francisco, Cancer Genetics and Prevention Program, San Francisco, CA, United States (Blomqvist) University of Helsinki, Department of Oncology, Helsinki University Hospital, Helsinki, Finland (Blomqvist) Orebro University Hospital, Department of Oncology, Orebro, Sweden (Bogdanova) Hannover Medical School, Department of Radiation Oncology, Hannover, Germany (Bogdanova, Hillemanns, Dork) Hannover Medical School, Gynaecology Research Unit, Hannover, Germany (Bojesen) Aarhus University Hospital, Department of Clinical Genetics, Aarhus, Denmark (Bojesen) Copenhagen University Hospital, Copenhagen General Population Study, Herlev and Gentofte Hospital, Herlev, Denmark (Bojesen) Copenhagen University Hospital, Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Herlev, Denmark (Bojesen) University of Copenhagen, Faculty of Health and Medical Sciences, Copenhagen, Denmark (Bonanni) IEO, European Institute of Oncology IRCCS, Division of Cancer Prevention and Genetics, Milan, Italy (Borg) Lund University and Skane University Hospital, Department of Oncology, Lund, Sweden (Brady) London North West University Hospitals NHS Trust, Northwick Park Hospital, North West Thames Regional Genetics Service, Kennedy Galton Centre, Harrow, United Kingdom (Brauch) Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany (Brauch) University of Tubingen, iFIT-Cluster of Excellence, Tubingen, Germany (Brauch, Brenner) German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany (Brenner) German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Division of Preventive Oncology, Heidelberg, Germany (Bruning) Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum, Bochum, Germany (Burwinkel) German Cancer Research Center (DKFZ), Molecular Epidemiology Group, Heidelberg C080, Germany (Burwinkel) University of Heidelberg, Molecular Biology of Breast Cancer, University Womens Clinic Heidelberg, Heidelberg, Germany (Buys) Huntsman Cancer Institute, Department of Medicine, Salt Lake City, UT, United States (Caldes, de la Hoya, Garcia-Saenz) Instituto de Investigacion Sanitaria San Carlos (IdISSC), Centro Investigacion Biomedica en Red de Cancer (CIBERONC), Medical Oncology Department, Hospital Clinico San Carlos, Madrid, Spain (Caliebe) University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Institute of Human Genetics, Kiel, Germany (Caligo) University Hospital of Pisa, Section of Molecular Genetics, Dept. of Laboratory Medicine, Pisa, Italy (Campa) University of Pisa, Department of Biology, Pisa, Italy (Campbell) Peter MacCallum Cancer Center, Research Division, Melbourne, VIC, Australia (Campbell, James) The University of Melbourne, Sir Peter MacCallum Department of Oncology, Melbourne, VIC, Australia (Canzian) German Cancer Research Center (DKFZ), Genomic Epidemiology Group, Heidelberg, Germany (Castelao) Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Oncology and Genetics Unit, Vigo, Spain (Chang-Claude, Maurer) University Medical Center Hamburg-Eppendorf, Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH), Hamburg, Germany (Claes, Wieme) Ghent University, Centre for Medical Genetics, Gent, Belgium (Carpenter, Clarke) University of Sydney, Westmead Institute for Medical Research, Sydney, NSW, Australia (Collavoli) University and University Hospital of Pisa, Section of Genetic Oncology, Dept. of Laboratory Medicine, Pisa, Italy (Conner) Huntsman Cancer Institute, Salt Lake City, UT, United States (Cox) Imperial College London, Department of Epidemiology and Biostatistics, School of Public Health, London, United Kingdom (Cox) Cancer Research Center of Lyon, INSERM, Lyon U1052, France (Cybulski, Durda, Jakubowska, Lubinski) Pomeranian Medical University, Department of Genetics and Pathology, Szczecin, Poland (Czene, Eriksson, Gabrielson, Hall) Karolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm, Sweden (Daly) Fox Chase Cancer Center, Department of Clinical Genetics, Philadelphia, PA, United States (Devilee) Leiden University Medical Center, Department of Pathology, Leiden, Netherlands (Devilee) Leiden University Medical Center, Department of Human Genetics, Leiden, Netherlands (Diez) Vall d'Hebron Institute of Oncology (VHIO), Oncogenetics Group, Barcelona, Spain (Diez) University Hospital Vall d'Hebron, Area of Clinical and Molecular Genetics, Barcelona, Spain (Ding, Neuhausen, Steele) Beckman Research Institute of City of Hope, Department of Population Sciences, Duarte, CA, United States (Dite, Giles, Hopper, Milne) The University of Melbourne, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Melbourne, Victoria, Australia (Ditsch, Meindl) Ludwig Maximilian University of Munich, Department of Gynecology and Obstetrics, Munich, Germany (Domchek, Nathanson) Perelman School of Medicine at the University of Pennsylvania, Department of Medicine, Abramson Cancer Center, Philadelphia, PA, United States (Dorfling, van Rensburg) University of Pretoria, Department of Genetics, Arcadia, South Africa (dos-Santos-Silva, Peto) London School of Hygiene and Tropical Medicine, Department of Non-Communicable Disease Epidemiology, London, United Kingdom (Dwek, Presneau) University of Westminster, Department of Biomedical Sciences, Faculty of Science and Technology, London, United Kingdom (Eccles) University of Southampton, Cancer Sciences Academic Unit, Faculty of Medicine, Southampton, United Kingdom (Ekici) Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Institute of Human Genetics, University Hospital Erlangen, Erlangen, Germany (Eliassen) Harvard Medical School, Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, United States (Eliassen, Hunter, Kraft) Harvard T.H. 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University College London, MRC Clinical Trials Unit at UCL, Institute of Clinical Trials & Methodology, London, United Kingdom (Miller) Roswell Park Cancer Institute, NRG Oncology, Clinical Trials Development Division, Buffalo, NY, United States (Nguyen-Dumont, Southey, Milne) Monash University, Precision Medicine, School of Clinical Sciences at Monash Health, Clayton, VIC, Australia (Nielsen, Rossing) Rigshospitalet, Copenhagen University Hospital, Center for Genomic Medicine, Copenhagen, Denmark (Nielsen, Olopade) The University of Chicago, Center for Clinical Cancer Genetics, Chicago, IL, United States (Nikitina-Zake) Latvian Biomedical Research and Study Centre, Riga, Latvia (Offit, Rau-Murthy) Memorial Sloan-Kettering Cancer Center, Clinical Genetics Service, Department of Medicine, New York, NY, United States (Olah, Pocza) National Institute of Oncology, Department of Molecular Genetics, Budapest, Hungary (Olshan, Troester) University of North Carolina at Chapel Hill, Department 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Centre, East Melbourne, VIC, Australia (Armitage, Arnold) Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia (Balleine, Kefford, Kirk, Rickard, DeFazio) Westmead Hospital, Westmead, NSW, Australia (Bastick) St George Hospital, Kogarah, NSW, Australia (Beesley, Hayward, Spurdle, Walker, Lakhani) Queensland Institute of Medical Research, Herston, QLD, Australia (Beilby, Saunders) Queen Elizabeth Medical Centre, Nedlands, WA, Australia (Bennett) Silverton Place, Brisbane, QLD, Australia (Blackburn) Australian National University, Canberra, Australia (Bogwitz, Gaff, Lindeman, Pachter, Scott, Sexton, Visvader, Taylor, Winship) The Royal Melbourne Hospital, Parkville, VIC, Australia (Brennan) NSW Breast Cancer Institute, Westmead, NSW, Australia (Brown, French, Edwards) University of Queensland, Queensland, QLD, Australia (Burgess) Austin Health, Heidelberg, VIC, Australia (Burke, Patterson) Royal Hobart Hospital, Hobart, TAS, Australia (Butow, Culling) Royal Prince Alfred Hospital, Camperdown, NSW, Australia (Caldon) Garvan Institute of Medical Research, Darlinghurst, NSW, Australia (Callen) University of Adelaide/Hanson Institute, Rundle Mall, SA, Australia (Chauhan, Eisenbruch, Heiniger, Lobb) University of Sydney, Sydney, NSW, Australia (Chauhan) The Kinghorn Cancer Centre, Sydney, NSW, Australia (Christian, Dixo... [Ovid has truncated this field to avoid Excel character limitations]
Issue Date:	9-Nov-2019
Copyright year:	2019
Publisher:	Nature Research
Place of publication:	United Kingdom
Publication information:	npj Breast Cancer. 5 (1) (no pagination), 2019. Article Number: 38. Date of Publication: 01 Dec 2019.
Abstract:	Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, 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 FANCM: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 BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM-/- patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM 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 FANCM-associated tumors.Copyright © 2019, The Author(s).
DOI:	http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1038/s41523-019-0127-5
ISSN:	2374-4677 (electronic)
URI:	https://repository.monashhealth.org/monashhealthjspui/handle/1/27300
Type:	Article
Appears in Collections:	Articles

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