Multicenter Study

. 2016 Dec;53(12):800-811.

doi: 10.1136/jmedgenet-2016-103839. Epub 2016 Sep 5.

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Melissa C Southey¹, David E Goldgar², Robert Winqvist³, Katri Pylkäs³, Fergus Couch⁴, Marc Tischkowitz⁵, William D Foulkes⁶, Joe Dennis⁷, Kyriaki Michailidou⁷, Elizabeth J van Rensburg⁸, Tuomas Heikkinen⁹, Heli Nevanlinna⁹, John L Hopper¹⁰, Thilo Dörk¹¹, Kathleen Bm Claes¹², Jorge Reis-Filho¹³, Zhi Ling Teo¹, Paolo Radice¹⁴, Irene Catucci¹⁵, Paolo Peterlongo¹⁵, Helen Tsimiklis¹, Fabrice A Odefrey¹, James G Dowty¹⁰, Marjanka K Schmidt¹⁶, Annegien Broeks¹⁶, Frans B Hogervorst¹⁶, Senno Verhoef¹⁶, Jane Carpenter¹⁷, Christine Clarke¹⁸, Rodney J Scott¹⁹, Peter A Fasching^{20

21}, Lothar Haeberle^{20

22}, Arif B Ekici²³, Matthias W Beckmann²⁰, Julian Peto²⁴, Isabel Dos-Santos-Silva²⁴, Olivia Fletcher²⁵, Nichola Johnson²⁵, Manjeet K Bolla⁷, Elinor J Sawyer²⁶, Ian Tomlinson²⁷, Michael J Kerin²⁸, Nicola Miller²⁸, Federik Marme^{29

30}, Barbara Burwinkel^{29

31}, Rongxi Yang^{29

31}, Pascal Guénel^{32

33}, Thérèse Truong^{32

33}, Florence Menegaux^{32

33}, Marie Sanchez^{32

33}, Stig Bojesen^{34

35}, Sune F Nielsen^{34

35}, Henrik Flyger³⁶, Javier Benitez^{37

38}, M Pilar Zamora³⁹, Jose Ignacio Arias Perez⁴⁰, Primitiva Menéndez⁴¹, Hoda Anton-Culver⁴², Susan Neuhausen⁴³, Argyrios Ziogas⁴², Christina A Clarke⁴⁴, Hermann Brenner^{45

46

47}, Volker Arndt⁴⁵, Christa Stegmaier⁴⁸, Hiltrud Brauch^{47

49

50}, Thomas Brüning⁵¹, Yon-Dschun Ko⁵², Taru A Muranen⁹, Kristiina Aittomäki⁵³, Carl Blomqvist⁵⁴, Natalia V Bogdanova^{11

55}, Natalia N Antonenkova⁵⁶, Annika Lindblom⁵⁷, Sara Margolin⁵⁸, Arto Mannermaa^{59

60}, Vesa Kataja^{61

62}, Veli-Matti Kosma^{59

60}, Jaana M Hartikainen^{59

60}, Amanda B Spurdle⁶³, kConFab Investigators⁶⁴; Australian Ovarian Cancer Study Group; Els Wauters^{65

66}, Dominiek Smeets^{65

66}, Benoit Beuselinck⁶⁷, Giuseppe Floris⁶⁷, Jenny Chang-Claude⁶⁸, Anja Rudolph⁶⁸, Petra Seibold⁶⁸, Dieter Flesch-Janys⁶⁹, Janet E Olson⁷⁰, Celine Vachon⁷⁰, Vernon S Pankratz⁷⁰, Catriona McLean⁷¹, Christopher A Haiman⁷², Brian E Henderson⁷², Fredrick Schumacher⁷², Loic Le Marchand⁷³, Vessela Kristensen^{74

75}, Grethe Grenaker Alnæs⁷⁴, Wei Zheng⁷⁶, David J Hunter^{77

78}, Sara Lindstrom^{77

78}, Susan E Hankinson^{78

79}, Peter Kraft^{77

78}, Irene Andrulis^{80

81}, Julia A Knight^{82

83}, Gord Glendon⁸⁰, Anna Marie Mulligan^{84

85}, Arja Jukkola-Vuorinen⁸⁶, Mervi Grip⁸⁷, Saila Kauppila⁸⁸, Peter Devilee⁸⁹, Robert A E M Tollenaar⁸⁹, Caroline Seynaeve^{90

91}, Antoinette Hollestelle^{90

91}, Montserrat Garcia-Closas⁹², Jonine Figueroa⁹³, Stephen J Chanock⁹³, Jolanta Lissowska⁹⁴, Kamila Czene⁹⁵, Hatef Darabi⁹⁵, Mikael Eriksson⁹⁵, Diana M Eccles⁹⁶, Sajjad Rafiq⁹⁶, William J Tapper⁹⁶, Sue M Gerty⁹⁶, Maartje J Hooning⁹¹, John W M Martens⁹¹, J Margriet Collée⁹⁷, Madeleine Tilanus-Linthorst⁹⁸, Per Hall⁹⁵, Jingmei Li⁹⁹, Judith S Brand⁹⁵, Keith Humphreys⁹⁵, Angela Cox¹⁰⁰, Malcolm W R Reed¹⁰⁰, Craig Luccarini¹⁰¹, Caroline Baynes¹⁰¹, Alison M Dunning¹⁰¹, Ute Hamann¹⁰², Diana Torres^{102

103}, Hans Ulrich Ulmer¹⁰⁴, Thomas Rüdiger¹⁰⁵, Anna Jakubowska¹⁰⁶, Jan Lubinski¹⁰⁶, Katarzyna Jaworska^{106

107}, Katarzyna Durda¹⁰⁶, Susan Slager⁷⁰, Amanda E Toland¹⁰⁸, Christine B Ambrosone¹⁰⁹, Drakoulis Yannoukakos¹¹⁰, Anthony Swerdlow^{111

112}, Alan Ashworth⁹², Nick Orr⁹², Michael Jones¹¹¹, Anna González-Neira³⁷, Guillermo Pita³⁷, M Rosario Alonso³⁷, Nuria Álvarez³⁷, Daniel Herrero³⁷, Daniel C Tessier¹¹³, Daniel Vincent¹¹⁴, Francois Bacot¹¹⁴, Jacques Simard¹¹⁵, Martine Dumont¹¹⁵, Penny Soucy¹¹⁵, Rosalind Eeles^{116

117}, Kenneth Muir¹¹⁸, Fredrik Wiklund¹¹⁹, Henrik Gronberg¹¹⁹, Johanna Schleutker^{120

121}, Børge G Nordestgaard¹²², Maren Weischer¹²³, Ruth C Travis¹²⁴, David Neal¹²⁵, Jenny L Donovan¹²⁶, Freddie C Hamdy¹²⁷, Kay-Tee Khaw¹²⁸, Janet L Stanford^{129

130}, William J Blot¹³¹, Stephen Thibodeau⁴, Daniel J Schaid⁷⁰, Joseph L Kelley¹³², Christiane Maier^{133

134}, Adam S Kibel^{135

136}, Cezary Cybulski¹³⁷, Lisa Cannon-Albright¹³⁸, Katja Butterbach⁴⁵, Jong Park¹³⁹, Radka Kaneva¹⁴⁰, Jyotsna Batra¹⁴¹, Manuel R Teixeira¹⁴², Zsofia Kote-Jarai¹¹⁶, Ali Amin Al Olama⁷, Sara Benlloch⁷, Stefan P Renner¹⁴³, Arndt Hartmann¹⁴⁴, Alexander Hein¹⁴³, Matthias Ruebner¹⁴³, Diether Lambrechts^{145

146}, Els Van Nieuwenhuysen¹⁴⁷, Ignace Vergote¹⁴⁷, Sandrina Lambretchs¹⁴⁷, Jennifer A Doherty¹⁴⁸, Mary Anne Rossing^{149

150}, Stefan Nickels¹⁵¹, Ursula Eilber¹⁵¹, Shan Wang-Gohrke¹⁵², Kunle Odunsi¹⁵³, Lara E Sucheston-Campbell¹⁵³, Grace Friel¹⁵³, Galina Lurie¹⁵⁴, Jeffrey L Killeen¹⁵⁵, Lynne R Wilkens¹⁵⁴, Marc T Goodman^{156

157}, Ingo Runnebaum¹⁵⁸, Peter A Hillemanns¹⁵⁹, Liisa M Pelttari⁹, Ralf Butzow¹⁶⁰, Francesmary Modugno^{161

162}, Robert P Edwards¹³², Roberta B Ness¹⁶³, Kirsten B Moysich¹⁶⁴, Andreas du Bois^{165

166}, Florian Heitz^{165

166}, Philipp Harter^{165

166}, Stefan Kommoss^{166

167}, Beth Y Karlan¹⁶⁸, Christine Walsh¹⁶⁸, Jenny Lester¹⁶⁸, Allan Jensen¹⁶⁹, Susanne Krüger Kjaer^{169

170}, Estrid Høgdall^{169

171}, Bernard Peissel¹⁷², Bernardo Bonanni¹⁷³, Loris Bernard¹⁷⁴, Ellen L Goode⁷⁰, Brooke L Fridley¹⁷⁵, Robert A Vierkant⁷⁰, Julie M Cunningham⁴, Melissa C Larson⁷⁰, Zachary C Fogarty⁷⁰, Kimberly R Kalli¹⁷⁶, Dong Liang¹⁷⁷, Karen H Lu¹⁷⁸, Michelle A T Hildebrandt¹⁷⁹, Xifeng Wu¹⁷⁹, Douglas A Levine¹⁸⁰, Fanny Dao¹⁸⁰, Maria Bisogna¹⁸⁰, Andrew Berchuck¹⁸¹, Edwin S Iversen¹⁸², Jeffrey R Marks¹⁸³, Lucy Akushevich¹⁸⁴, Daniel W Cramer¹⁸⁵, Joellen Schildkraut¹⁸⁴, Kathryn L Terry¹⁸⁵, Elizabeth M Poole^{186

187}, Meir Stampfer^{78

186}, Shelley S Tworoger^{186

187}, Elisa V Bandera¹⁸⁸, Irene Orlow¹⁸⁹, Sara H Olson¹⁸⁹, Line Bjorge^{190

191}, Helga B Salvesen^{190

191}, Anne M van Altena¹⁹², Katja K H Aben^{193

194

195}, Lambertus A Kiemeney¹⁹³, Leon F A G Massuger¹⁹², Tanja Pejovic¹⁹⁶, Yukie Bean¹⁹⁶, Angela Brooks-Wilson^{197

198}, Linda E Kelemen^{199

200}, Linda S Cook²⁰¹, Nhu D Le²⁰², Bohdan Górski¹³⁷, Jacek Gronwald¹³⁷, Janusz Menkiszak²⁰³, Claus K Høgdall¹⁷⁰, Lene Lundvall²⁰⁴, Lotte Nedergaard²⁰⁵, Svend Aage Engelholm²⁰⁶, Ed Dicks²⁰⁷, Jonathan Tyrer²⁰⁷, Ian Campbell²⁰⁸, Iain McNeish²⁰⁹, James Paul²¹⁰, Nadeem Siddiqui²¹¹, Rosalind Glasspool²¹¹, Alice S Whittemore²¹², Joseph H Rothstein²¹², Valerie McGuire²¹², Weiva Sieh²¹², Hui Cai⁷⁶, Xiao-Ou Shu⁷⁶, Rachel T Teten²¹³, Rebecca Sutphen²¹³, John R McLaughlin²¹⁴, Steven A Narod²¹⁵, Catherine M Phelan²¹⁶, Alvaro N Monteiro²¹⁶, David Fenstermacher²¹⁷, Hui-Yi Lin²¹⁷, Jennifer B Permuth²¹⁶, Thomas A Sellers²¹⁶, Y Ann Chen²¹⁷, Ya-Yu Tsai²¹⁶, Zhihua Chen²¹⁷, Aleksandra Gentry-Maharaj²¹⁸, Simon A Gayther²¹⁹, Susan J Ramus²¹⁹, Usha Menon²¹⁸, Anna H Wu²¹⁹, Celeste L Pearce²¹⁹, David Van Den Berg²¹⁹, Malcolm C Pike^{219

220}, Agnieszka Dansonka-Mieszkowska²²¹, Joanna Plisiecka-Halasa²²¹, Joanna Moes-Sosnowska²²¹, Jolanta Kupryjanczyk²²¹, Paul Dp Pharoah²⁰⁷, Honglin Song²⁰⁷, Ingrid Winship^{222

223}, Georgia Chenevix-Trench⁶³, Graham G Giles^{10

224}, Sean V Tavtigian², Doug F Easton⁷, Roger L Milne^{10

224}

Affiliations

¹ Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, Australia.
² Huntsman Cancer Institute, Salt Lake City, UT, USA.
³ Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, Nordlab Oulu, Oulu, Finland.
⁴ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
⁵ Department of Medical Genetics and National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, and the Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrooke's Hospital.
⁶ Program in Cancer Genetics, Department of Human Genetics and Oncology, Lady Davis Institute, and Research Institute, McGill University Health Centre, McGill University, Montreal, Canada.
⁷ Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Laboratory, Worts Causeway, Cambridge, UK.
⁸ Department of Genetics, University of Pretoria, South Africa.
⁹ Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
¹⁰ Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.
¹¹ Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
¹² Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.
¹³ Department of Pathology and Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
¹⁴ Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.
¹⁵ IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy.
¹⁶ Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
¹⁷ Australian Breast Cancer Tissue Bank, University of Sydney at the Westmead Institute for Medical Research, NSW, Australia.
¹⁸ Centre for Cancer Research, University of Sydney at the Westmead Institute for Medical Research, NSW, Australia.
¹⁹ Division of Molecular Medicine, Pathology North, Newcastle and University of Newcastle, NSW, Australia.
²⁰ University Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
²¹ David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, CA, USA.
²² Unit of Biostatistics, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
²³ Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Erlangen, Germany.
²⁴ Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, London, UK.
²⁵ Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
²⁶ Division of Cancer Studies, NIHR Comprehensive Biomedical Research Centre, Guy's & St. Thomas' NHS Foundation Trust in partnership with King's College London, London, UK.
²⁷ Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, UK and Oxford NIHR Biomedical Research Centre, Headington, OX3 7LE.
²⁸ Surgery, Lambe Institute for Translational Science, NUIGalway, University Hospital Galway, Galway, Ireland.
²⁹ Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
³⁰ National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany.
³¹ Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
³² Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif, France.
³³ University Paris-Sud, UMRS 1018, Villejuif, France.
³⁴ Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.
³⁵ Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.
³⁶ Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Denmark.
³⁷ Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
³⁸ Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain.
³⁹ Servicio de Oncología Médica, Hospital Universitario La Paz, Madrid, Spain.
⁴⁰ Servicio de Cirugía General y Especialidades, Hospital Monte Naranco, Oviedo, Spain.
⁴¹ Servicio de Anatomía Patológica, Hospital Monte Naranco, Oviedo, Spain.
⁴² Department of Epidemiology, University of California Irvine, Irvine, California, USA.
⁴³ Beckman Research Institute of City of Hope, Duarte, California, USA.
⁴⁴ Cancer Prevention Institute of California, Fremont, California, USA.
⁴⁵ Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁴⁶ Division of Preventive Oncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁴⁷ German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁴⁸ Saarland Cancer Registry, Saarbrücken, Germany.
⁴⁹ Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart.
⁵⁰ University of Tübingen, Tübingen, Germany.
⁵¹ Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University, Bochum (IPA), Germany.
⁵² Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany.
⁵³ Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.
⁵⁴ Department of Oncology, Helsinki University Central Hospital, Helsinki, Finland.
⁵⁵ Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.
⁵⁶ N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
⁵⁷ Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
⁵⁸ Department of Oncology - Pathology, Karolinska Institutet, Stockholm, Sweden.
⁵⁹ School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, and Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland.
⁶⁰ Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.
⁶¹ School of Medicine, Institute of Clinical Medicine, Oncology, University of Eastern Finland, Kuopio, Finland.
⁶² Biocenter Kuopio, Cancer Center of Eastern Finland, Kuopio University Hospital, Kuopio, Finland.
⁶³ QIMR Berghofer Medical Research Institute, Brisbane, Australia.
⁶⁴ Research Department, Peter MacCallum Cancer Centre and The Sir Peter MacCallum Department of Oncology, University of Melbourne, Victoria, Australia.
⁶⁵ Vesalius Research Center (VRC), VIB, Leuven, Belgium.
⁶⁶ Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium.
⁶⁷ University Hospital Gasthuisberg, Leuven, Belgium.
⁶⁸ Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁶⁹ Department of Cancer Epidemiology/Clinical Cancer Registry and Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg, Germany.
⁷⁰ Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
⁷¹ Anatomical Pathology, The Alfred Hospital, Melbourne, Australia.
⁷² Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
⁷³ Epidemiology Program, Cancer Research Center, University of Hawaii, Honolulu, HI, USA.
⁷⁴ Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway.
⁷⁵ Faculty of Medicine (Faculty Division Ahus), University of Oslo (UiO), Norway.
⁷⁶ Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
⁷⁷ Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA, USA.
⁷⁸ Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA.
⁷⁹ Channing Laboratory, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
⁸⁰ Ontario Cancer Genetics Network, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
⁸¹ Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
⁸² Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
⁸³ Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
⁸⁴ Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
⁸⁵ Laboratory Medicine Program, University Health Network, Toronto, Ontario; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
⁸⁶ Department of Oncology, Oulu University Hospital, University of Oulu, Oulu, Finland.
⁸⁷ Department of Surgery, Oulu University Hospital, University of Oulu, Oulu, Finland.
⁸⁸ Department of Pathology, Oulu University Hospital, University of Oulu, Oulu, Finland.
⁸⁹ Department of Surgical Oncology, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.
⁹⁰ Family Cancer Clinic, Department of Medical Oncology, Erasmus MC-Daniel den Hoed Cancer Centre, Rotterdam, The Netherlands.
⁹¹ Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
⁹² The Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, SW3 6JB, UK.
⁹³ Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
⁹⁴ Department of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Memorial Cancer Center & Institute of Oncology, Warsaw, Poland.
⁹⁵ Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
⁹⁶ Faculty of Medicine, University of Southampton (UoS), Southampton UK.
⁹⁷ Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands.
⁹⁸ Department of Surgical Oncology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands.
⁹⁹ Human Genetics Division, Genome Institute of Singapore, Singapore 138672, Singapore.
¹⁰⁰ Sheffield Cancer Research, Department of Oncology, University of Sheffield, Sheffield, UK.
¹⁰¹ Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
¹⁰² Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
¹⁰³ Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia.
¹⁰⁴ Frauenklinik der Stadtklinik Baden-Baden, Baden-Baden, Germany.
¹⁰⁵ Institute of Pathology, Städtisches Klinikum Karlsruhe, Karlsruhe, Germany.
¹⁰⁶ Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
¹⁰⁷ Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.
¹⁰⁸ Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.
¹⁰⁹ Roswell Park Cancer Institute, Buffalo, New York, USA.
¹¹⁰ Molecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research "Demokritos", Aghia Paraskevi Attikis, Athens, Greece.
¹¹¹ Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
¹¹² Division of Breast Cancer Research, Institute of Cancer Research, London, UK.
¹¹³ Centre d'innovation Genome Quebec et University McGill Montreal Quebec, Canada.
¹¹⁴ McGill University, Montreal, Quebec, Canada.
¹¹⁵ Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Quebec Research Center. Laval University, Quebec, Canada.
¹¹⁶ The Institute of Cancer Research, London, SM2 5NG, UK.
¹¹⁷ Royal Marsden NHS Foundation Trust, Fulham, London, SW3 6JJ, UK.
¹¹⁸ University of Warwick, Coventry, UK.
¹¹⁹ Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden.
¹²⁰ Department of Medical Biochemistry and Genetics, University of Turku, and Tyks Microbiology and Genetics, Department of Medical Genetics, Turku University Hospital, Turku, Finland.
¹²¹ Institute of Biomedical Technology/BioMediTech, University of Tampere, Tampere, Finland.
¹²² Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev Ringvej 75, DK-2730 Herlev, Denmark.
¹²³ Department of Human Genetics University of Utah, Salt Lake City, UT, USA and Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.
¹²⁴ Cancer Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
¹²⁵ Surgical Oncology (Uro-Oncology: S4), University of Cambridge, Box 279, Addenbrooke's Hospital, Hills Road, Cambridge, UK and Cancer Research UK Cambridge Research Institute, Li Ka Shing Centre, Cambridge, UK.
¹²⁶ Professor of Social Medicine, University of Bristol, Canynge Hall, 39 Whatley Road, Bristol BS8 2PS.
¹²⁷ Nuffield Department of Surgical Sciences, Old Road Campus Research Building (off Roosevelt Drive), University of Oxford, Headington, Oxford, OX3 7DQ.
¹²⁸ Cambridge Institute of Public Health, University of Cambridge, Forvie Site, Robinson Way, Cambridge CB2 0SR.
¹²⁹ Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
¹³⁰ Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington, USA.
¹³¹ International Epidemiology Institute, 1455 Research Blvd., Suite 550, Rockville, MD 20850.
¹³² Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
¹³³ Department of Urology, University Hospital Ulm, Germany.
¹³⁴ Institute of Human Genetics University Hospital Ulm, Germany.
¹³⁵ Brigham and Women's Hospital/Dana-Farber Cancer Institute, 45 Francis Street- ASB II-3, Boston, MA 02115.
¹³⁶ Washington University, St Louis, Missouri.
¹³⁷ International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
¹³⁸ Division of Genetic Epidemiology, Department of Medicine, University of Utah School of Medicine.
¹³⁹ Division of Cancer Prevention and Control, H. Lee Moffitt Cancer Center, 12902 Magnolia Dr., Tampa, Florida, USA.
¹⁴⁰ Molecular Medicine Center and Department of Medical Chemistry and Biochemistry, Medical University - Sofia, 2 Zdrave St, 1431, Sofia, Bulgaria.
¹⁴¹ Australian Prostate Cancer Research Centre-Qld, Institute of Health and Biomedical Innovation and Schools of Life Science and Public Health, Queensland University of Technology, Brisbane, Australia.
¹⁴² Department of Genetics, Portuguese Oncology Institute, Porto, Portugal and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal.
¹⁴³ University Hospital Erlangen, Department of Gynecology and Obstetrics, Friedrich-Alexander-University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Universitaetsstrasse 21-23, 91054 Erlangen, Germany.
¹⁴⁴ University Hospital Erlangen, Institute of Pathology, Friedrich-Alexander-University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Universitaetsstrasse 21-23, 91054 Erlangen, German.
¹⁴⁵ Vesalius Research Center, VIB, Leuven, Belgium.
¹⁴⁶ Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Belgium.
¹⁴⁷ Department of Epidemiology, The Geisel School of Medicine at Dartmouth, Lebanon, NH, USA.
¹⁴⁸ Department of Epidemiology, The Geisel School of Medicine at Dartmouth, Hannover, NH, USA.
¹⁴⁹ Program in Epidemiology, Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
¹⁵⁰ Department of Epidemiology, University of Washington, Seattle, WA, USA.
¹⁵¹ German Cancer Research Center, Division of Cancer Epidemiology, Heidelberg, Germany.
¹⁵² Department of Obstetrics and Gynecology, University of Ulm, Ulm, Germany.
¹⁵³ Department of Gynecological Oncology, Roswell Park Cancer Institute, Buffalo, NY.
¹⁵⁴ Cancer Epidemiology Program, University of Hawaii Cancer Center, Hawaii, USA.
¹⁵⁵ Department of Pathology, Kapiolani Medical Center for Women and Children, John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii 96826, USA.
¹⁵⁶ Cancer Prevention and Control, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
¹⁵⁷ Community and Population Health Research Institute, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
¹⁵⁸ Department of Gynecology and Obstetrics, Friedrich Schiller University, Jena University Hospital, Jena, Germany.
¹⁵⁹ Clinics of Obstetrics and Gynaecology, Hannover Medical School, Hannover, Germany.
¹⁶⁰ Department of Pathology, Helsinki University Central Hospital, Helsinki, 00029 HUS, Finland.
¹⁶¹ University of Pittsburgh Department of Obstetrics, Gynecology and Reproductive Sciences and Ovarian Cancer Center of Excellence Pittsburgh PA USA.
¹⁶² University of Pittsburgh Department of Epidemiology, University of Pittsburgh Graduate School of Public Health and Womens Cancer Research Program, Magee-Womens Research Institute and University of Pittsburgh Cancer Institute Pittsburgh PA USA.
¹⁶³ The University of Texas School of Public Health, Houston, TX, USA.
¹⁶⁴ Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY.
¹⁶⁵ Department of Gynecology and Gynecologic Oncology, Kliniken Essen-Mitte/ Evang. Huyssens-Stiftung/ Knappschaft GmbH, Essen, Germany.
¹⁶⁶ Department of Gynecology and Gynecologic Oncology, Dr. Horst Schmidt Kliniken Wiesbaden, Wiesbaden, Germany.
¹⁶⁷ Tuebingen University Hospital, Department of Women's Health, Tuebingen, Germany.
¹⁶⁸ Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California.
¹⁶⁹ Department of Virus, Lifestyle and Genes, Danish Cancer Society Research Center, Copenhagen, Denmark.
¹⁷⁰ Department of Obstetrics and Gynecology, Rigshospitalet, Copenhagen, Denmark.
¹⁷¹ Molecular Unit, Department of Pathology, Herlev Hospital, University of Copenhagen, Copenhagen, Denmark.
¹⁷² Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.
¹⁷³ Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy.
¹⁷⁴ Department of Experimental Oncology, Istituto Europeo di Oncologia (IEO), Milan, Italy and Cogentech Cancer Genetic Test Laboratory, Milan, Italy.
¹⁷⁵ University of Kansas Medical Center, Kansas City, KS, USA.
¹⁷⁶ Department of Medical Oncology, Mayo Clinic, Rochester, Minnesota, USA.
¹⁷⁷ College of Pharmacy and Health Sciences, Texas Southern University, Houston, Texas, USA.
¹⁷⁸ Department of Gynecologic Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
¹⁷⁹ Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
¹⁸⁰ Gynecology Service, Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
¹⁸¹ Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina, USA.
¹⁸² Department of Statistical Science, Duke University, Durham, North Carolina, USA.
¹⁸³ Department of Surgery, Duke University Medical Center, Durham, North Carolina, USA.
¹⁸⁴ Cancer Prevention, Detection & Control Research Program, Duke Cancer Institute, Durham, North Carolina, USA.
¹⁸⁵ Obstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital, Boston, Massachusetts, USA.
¹⁸⁶ Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School.
¹⁸⁷ Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, Massachusetts, USA.
¹⁸⁸ Cancer Prevention and Control Program, Rutgers Cancer Institute of New Jersey, The State University of New Jersey, New Brunswick, NJ, USA.
¹⁸⁹ Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
¹⁹⁰ Department of Gynecology and Obstetrics, Haukeland University Horpital, Bergen, Norway.
¹⁹¹ Centre for Cancer Biomarkers, Department of Clinical Sciences, University of Bergen, Bergen, Norway.
¹⁹² Radboud university medical center, Department of Gynaecology, Nijmegen, Netherlands.
¹⁹³ Radboud university medical centre, Radboud Institute for Health Sciences, Nijmegen, Netherlands.
¹⁹⁴ Netherlands Comprehensive Cancer Organisation, Utrecht, Netherlands.
¹⁹⁵ Department of Obstetrcs & Gynecology, Oregon Health & Science University.
¹⁹⁶ Knight Cancer Institute, Oregon Health & Science University, Portland, Oregon, USA.
¹⁹⁷ Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, Canada.
¹⁹⁸ Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC Canada.
¹⁹⁹ Department of Public Health Sciences, College of Medicine, Medical University of South Carolina, SC, USA.
²⁰⁰ Hollings Cancer Center, Medical University of South Carolina, SC, USA.
²⁰¹ Division of Epidemiology and Biostatistics, Department of Internal Medicine, University of New Mexico, Albuquerque, New Mexico, USA.
²⁰² Cancer Control Research, BC Cancer Agency, Vancouver, BC, Canada.
²⁰³ Department of Gynecological Surgery and Gynecological Oncology of Adults and Adolescents, Pomeranian Medical University, Szczecin, Poland.
²⁰⁴ Gyn Clinic, Rigshospitalet, University of Copenhagen, Denmark.
²⁰⁵ Department of Pathology, Rigshospitalet, University of Copenhagen, Denmark.
²⁰⁶ Department of Oncology, Rigshospitalet, University of Copenhagen, Denmark.
²⁰⁷ Department of Oncology, University of Cambridge, Strangeways Research laboratory, Cambridge, UK.
²⁰⁸ Cancer Genetics Laboratory, Research Division, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne.
²⁰⁹ Institute of Cancer Sciences, University of Glasgow, Wolfson Wohl Cancer Research Centre, Beatson Institute for Cancer Research, Glasgow, UK.
²¹⁰ The Cancer Research UK Clinical Trials Unit, Beatson West of Scotland Cancer Centre, 1053 Great Western Road, Glasgow, G12 0YN.
²¹¹ Department of Gynaecological Oncology, Glasgow Royal Infirmary.
²¹² Department of Health Research and Policy - Epidemiology, Stanford University School of Medicine, Stanford CA, USA.
²¹³ Epidemiology Center, College of Medicine, University of South Florida, Tampa, Florida, USA.
²¹⁴ Public Health Ontario, Toronto, Canada.
²¹⁵ Women's College Research Institute, University of Toronto, Toronto, Ontario, Canada.
²¹⁶ Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA.
²¹⁷ Department of Biostatistics and Bioinformatics, Moffitt Cancer Center, Tampa, FL, USA.
²¹⁸ Women's Cancer, Institute for Women's Health, UCL, London, United Kingdom.
²¹⁹ Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA.
²²⁰ Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
²²¹ Department of Pathology and Laboratory Diagnostics, The Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland.
²²² Department of Medicine, The University of Melbourne Health, Australia.
²²³ The Royal Melbourne Hospital, Victoria 3050, Australia.
²²⁴ Cancer Epidemiology Centre, Cancer Council Victoria, Victoria, Australia.

PMID: 27595995
PMCID: PMC5200636
DOI: 10.1136/jmedgenet-2016-103839

Multicenter Study

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Melissa C Southey et al. J Med Genet. 2016 Dec.

. 2016 Dec;53(12):800-811.

doi: 10.1136/jmedgenet-2016-103839. Epub 2016 Sep 5.

Authors

Affiliations

¹ Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, Australia.
² Huntsman Cancer Institute, Salt Lake City, UT, USA.
³ Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, Nordlab Oulu, Oulu, Finland.
⁴ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
⁵ Department of Medical Genetics and National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, and the Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrooke's Hospital.
⁶ Program in Cancer Genetics, Department of Human Genetics and Oncology, Lady Davis Institute, and Research Institute, McGill University Health Centre, McGill University, Montreal, Canada.
⁷ Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Laboratory, Worts Causeway, Cambridge, UK.
⁸ Department of Genetics, University of Pretoria, South Africa.
⁹ Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
¹⁰ Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.
¹¹ Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
¹² Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.
¹³ Department of Pathology and Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
¹⁴ Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.
¹⁵ IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy.
¹⁶ Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
¹⁷ Australian Breast Cancer Tissue Bank, University of Sydney at the Westmead Institute for Medical Research, NSW, Australia.
¹⁸ Centre for Cancer Research, University of Sydney at the Westmead Institute for Medical Research, NSW, Australia.
¹⁹ Division of Molecular Medicine, Pathology North, Newcastle and University of Newcastle, NSW, Australia.
²⁰ University Breast Center Franconia, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
²¹ David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, CA, USA.
²² Unit of Biostatistics, Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
²³ Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Erlangen, Germany.
²⁴ Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, London, UK.
²⁵ Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
²⁶ Division of Cancer Studies, NIHR Comprehensive Biomedical Research Centre, Guy's & St. Thomas' NHS Foundation Trust in partnership with King's College London, London, UK.
²⁷ Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, UK and Oxford NIHR Biomedical Research Centre, Headington, OX3 7LE.
²⁸ Surgery, Lambe Institute for Translational Science, NUIGalway, University Hospital Galway, Galway, Ireland.
²⁹ Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
³⁰ National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany.
³¹ Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
³² Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif, France.
³³ University Paris-Sud, UMRS 1018, Villejuif, France.
³⁴ Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.
³⁵ Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.
³⁶ Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Denmark.
³⁷ Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
³⁸ Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain.
³⁹ Servicio de Oncología Médica, Hospital Universitario La Paz, Madrid, Spain.
⁴⁰ Servicio de Cirugía General y Especialidades, Hospital Monte Naranco, Oviedo, Spain.
⁴¹ Servicio de Anatomía Patológica, Hospital Monte Naranco, Oviedo, Spain.
⁴² Department of Epidemiology, University of California Irvine, Irvine, California, USA.
⁴³ Beckman Research Institute of City of Hope, Duarte, California, USA.
⁴⁴ Cancer Prevention Institute of California, Fremont, California, USA.
⁴⁵ Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁴⁶ Division of Preventive Oncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁴⁷ German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁴⁸ Saarland Cancer Registry, Saarbrücken, Germany.
⁴⁹ Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart.
⁵⁰ University of Tübingen, Tübingen, Germany.
⁵¹ Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University, Bochum (IPA), Germany.
⁵² Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany.
⁵³ Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.
⁵⁴ Department of Oncology, Helsinki University Central Hospital, Helsinki, Finland.
⁵⁵ Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.
⁵⁶ N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
⁵⁷ Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
⁵⁸ Department of Oncology - Pathology, Karolinska Institutet, Stockholm, Sweden.
⁵⁹ School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, and Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland.
⁶⁰ Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.
⁶¹ School of Medicine, Institute of Clinical Medicine, Oncology, University of Eastern Finland, Kuopio, Finland.
⁶² Biocenter Kuopio, Cancer Center of Eastern Finland, Kuopio University Hospital, Kuopio, Finland.
⁶³ QIMR Berghofer Medical Research Institute, Brisbane, Australia.
⁶⁴ Research Department, Peter MacCallum Cancer Centre and The Sir Peter MacCallum Department of Oncology, University of Melbourne, Victoria, Australia.
⁶⁵ Vesalius Research Center (VRC), VIB, Leuven, Belgium.
⁶⁶ Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium.
⁶⁷ University Hospital Gasthuisberg, Leuven, Belgium.
⁶⁸ Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁶⁹ Department of Cancer Epidemiology/Clinical Cancer Registry and Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg, Germany.
⁷⁰ Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
⁷¹ Anatomical Pathology, The Alfred Hospital, Melbourne, Australia.
⁷² Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
⁷³ Epidemiology Program, Cancer Research Center, University of Hawaii, Honolulu, HI, USA.
⁷⁴ Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway.
⁷⁵ Faculty of Medicine (Faculty Division Ahus), University of Oslo (UiO), Norway.
⁷⁶ Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
⁷⁷ Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA, USA.
⁷⁸ Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA.
⁷⁹ Channing Laboratory, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
⁸⁰ Ontario Cancer Genetics Network, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
⁸¹ Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
⁸² Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
⁸³ Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
⁸⁴ Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
⁸⁵ Laboratory Medicine Program, University Health Network, Toronto, Ontario; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
⁸⁶ Department of Oncology, Oulu University Hospital, University of Oulu, Oulu, Finland.
⁸⁷ Department of Surgery, Oulu University Hospital, University of Oulu, Oulu, Finland.
⁸⁸ Department of Pathology, Oulu University Hospital, University of Oulu, Oulu, Finland.
⁸⁹ Department of Surgical Oncology, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.
⁹⁰ Family Cancer Clinic, Department of Medical Oncology, Erasmus MC-Daniel den Hoed Cancer Centre, Rotterdam, The Netherlands.
⁹¹ Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
⁹² The Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, SW3 6JB, UK.
⁹³ Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
⁹⁴ Department of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Memorial Cancer Center & Institute of Oncology, Warsaw, Poland.
⁹⁵ Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
⁹⁶ Faculty of Medicine, University of Southampton (UoS), Southampton UK.
⁹⁷ Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands.
⁹⁸ Department of Surgical Oncology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands.
⁹⁹ Human Genetics Division, Genome Institute of Singapore, Singapore 138672, Singapore.
¹⁰⁰ Sheffield Cancer Research, Department of Oncology, University of Sheffield, Sheffield, UK.
¹⁰¹ Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
¹⁰² Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
¹⁰³ Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia.
¹⁰⁴ Frauenklinik der Stadtklinik Baden-Baden, Baden-Baden, Germany.
¹⁰⁵ Institute of Pathology, Städtisches Klinikum Karlsruhe, Karlsruhe, Germany.
¹⁰⁶ Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
¹⁰⁷ Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.
¹⁰⁸ Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.
¹⁰⁹ Roswell Park Cancer Institute, Buffalo, New York, USA.
¹¹⁰ Molecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research "Demokritos", Aghia Paraskevi Attikis, Athens, Greece.
¹¹¹ Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
¹¹² Division of Breast Cancer Research, Institute of Cancer Research, London, UK.
¹¹³ Centre d'innovation Genome Quebec et University McGill Montreal Quebec, Canada.
¹¹⁴ McGill University, Montreal, Quebec, Canada.
¹¹⁵ Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Quebec Research Center. Laval University, Quebec, Canada.
¹¹⁶ The Institute of Cancer Research, London, SM2 5NG, UK.
¹¹⁷ Royal Marsden NHS Foundation Trust, Fulham, London, SW3 6JJ, UK.
¹¹⁸ University of Warwick, Coventry, UK.
¹¹⁹ Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden.
¹²⁰ Department of Medical Biochemistry and Genetics, University of Turku, and Tyks Microbiology and Genetics, Department of Medical Genetics, Turku University Hospital, Turku, Finland.
¹²¹ Institute of Biomedical Technology/BioMediTech, University of Tampere, Tampere, Finland.
¹²² Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev Ringvej 75, DK-2730 Herlev, Denmark.
¹²³ Department of Human Genetics University of Utah, Salt Lake City, UT, USA and Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.
¹²⁴ Cancer Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
¹²⁵ Surgical Oncology (Uro-Oncology: S4), University of Cambridge, Box 279, Addenbrooke's Hospital, Hills Road, Cambridge, UK and Cancer Research UK Cambridge Research Institute, Li Ka Shing Centre, Cambridge, UK.
¹²⁶ Professor of Social Medicine, University of Bristol, Canynge Hall, 39 Whatley Road, Bristol BS8 2PS.
¹²⁷ Nuffield Department of Surgical Sciences, Old Road Campus Research Building (off Roosevelt Drive), University of Oxford, Headington, Oxford, OX3 7DQ.
¹²⁸ Cambridge Institute of Public Health, University of Cambridge, Forvie Site, Robinson Way, Cambridge CB2 0SR.
¹²⁹ Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
¹³⁰ Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington, USA.
¹³¹ International Epidemiology Institute, 1455 Research Blvd., Suite 550, Rockville, MD 20850.
¹³² Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
¹³³ Department of Urology, University Hospital Ulm, Germany.
¹³⁴ Institute of Human Genetics University Hospital Ulm, Germany.
¹³⁵ Brigham and Women's Hospital/Dana-Farber Cancer Institute, 45 Francis Street- ASB II-3, Boston, MA 02115.
¹³⁶ Washington University, St Louis, Missouri.
¹³⁷ International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
¹³⁸ Division of Genetic Epidemiology, Department of Medicine, University of Utah School of Medicine.
¹³⁹ Division of Cancer Prevention and Control, H. Lee Moffitt Cancer Center, 12902 Magnolia Dr., Tampa, Florida, USA.
¹⁴⁰ Molecular Medicine Center and Department of Medical Chemistry and Biochemistry, Medical University - Sofia, 2 Zdrave St, 1431, Sofia, Bulgaria.
¹⁴¹ Australian Prostate Cancer Research Centre-Qld, Institute of Health and Biomedical Innovation and Schools of Life Science and Public Health, Queensland University of Technology, Brisbane, Australia.
¹⁴² Department of Genetics, Portuguese Oncology Institute, Porto, Portugal and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal.
¹⁴³ University Hospital Erlangen, Department of Gynecology and Obstetrics, Friedrich-Alexander-University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Universitaetsstrasse 21-23, 91054 Erlangen, Germany.
¹⁴⁴ University Hospital Erlangen, Institute of Pathology, Friedrich-Alexander-University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Universitaetsstrasse 21-23, 91054 Erlangen, German.
¹⁴⁵ Vesalius Research Center, VIB, Leuven, Belgium.
¹⁴⁶ Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Belgium.
¹⁴⁷ Department of Epidemiology, The Geisel School of Medicine at Dartmouth, Lebanon, NH, USA.
¹⁴⁸ Department of Epidemiology, The Geisel School of Medicine at Dartmouth, Hannover, NH, USA.
¹⁴⁹ Program in Epidemiology, Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
¹⁵⁰ Department of Epidemiology, University of Washington, Seattle, WA, USA.
¹⁵¹ German Cancer Research Center, Division of Cancer Epidemiology, Heidelberg, Germany.
¹⁵² Department of Obstetrics and Gynecology, University of Ulm, Ulm, Germany.
¹⁵³ Department of Gynecological Oncology, Roswell Park Cancer Institute, Buffalo, NY.
¹⁵⁴ Cancer Epidemiology Program, University of Hawaii Cancer Center, Hawaii, USA.
¹⁵⁵ Department of Pathology, Kapiolani Medical Center for Women and Children, John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii 96826, USA.
¹⁵⁶ Cancer Prevention and Control, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
¹⁵⁷ Community and Population Health Research Institute, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
¹⁵⁸ Department of Gynecology and Obstetrics, Friedrich Schiller University, Jena University Hospital, Jena, Germany.
¹⁵⁹ Clinics of Obstetrics and Gynaecology, Hannover Medical School, Hannover, Germany.
¹⁶⁰ Department of Pathology, Helsinki University Central Hospital, Helsinki, 00029 HUS, Finland.
¹⁶¹ University of Pittsburgh Department of Obstetrics, Gynecology and Reproductive Sciences and Ovarian Cancer Center of Excellence Pittsburgh PA USA.
¹⁶² University of Pittsburgh Department of Epidemiology, University of Pittsburgh Graduate School of Public Health and Womens Cancer Research Program, Magee-Womens Research Institute and University of Pittsburgh Cancer Institute Pittsburgh PA USA.
¹⁶³ The University of Texas School of Public Health, Houston, TX, USA.
¹⁶⁴ Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY.
¹⁶⁵ Department of Gynecology and Gynecologic Oncology, Kliniken Essen-Mitte/ Evang. Huyssens-Stiftung/ Knappschaft GmbH, Essen, Germany.
¹⁶⁶ Department of Gynecology and Gynecologic Oncology, Dr. Horst Schmidt Kliniken Wiesbaden, Wiesbaden, Germany.
¹⁶⁷ Tuebingen University Hospital, Department of Women's Health, Tuebingen, Germany.
¹⁶⁸ Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California.
¹⁶⁹ Department of Virus, Lifestyle and Genes, Danish Cancer Society Research Center, Copenhagen, Denmark.
¹⁷⁰ Department of Obstetrics and Gynecology, Rigshospitalet, Copenhagen, Denmark.
¹⁷¹ Molecular Unit, Department of Pathology, Herlev Hospital, University of Copenhagen, Copenhagen, Denmark.
¹⁷² Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.
¹⁷³ Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy.
¹⁷⁴ Department of Experimental Oncology, Istituto Europeo di Oncologia (IEO), Milan, Italy and Cogentech Cancer Genetic Test Laboratory, Milan, Italy.
¹⁷⁵ University of Kansas Medical Center, Kansas City, KS, USA.
¹⁷⁶ Department of Medical Oncology, Mayo Clinic, Rochester, Minnesota, USA.
¹⁷⁷ College of Pharmacy and Health Sciences, Texas Southern University, Houston, Texas, USA.
¹⁷⁸ Department of Gynecologic Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
¹⁷⁹ Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
¹⁸⁰ Gynecology Service, Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
¹⁸¹ Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina, USA.
¹⁸² Department of Statistical Science, Duke University, Durham, North Carolina, USA.
¹⁸³ Department of Surgery, Duke University Medical Center, Durham, North Carolina, USA.
¹⁸⁴ Cancer Prevention, Detection & Control Research Program, Duke Cancer Institute, Durham, North Carolina, USA.
¹⁸⁵ Obstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital, Boston, Massachusetts, USA.
¹⁸⁶ Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School.
¹⁸⁷ Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, Massachusetts, USA.
¹⁸⁸ Cancer Prevention and Control Program, Rutgers Cancer Institute of New Jersey, The State University of New Jersey, New Brunswick, NJ, USA.
¹⁸⁹ Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
¹⁹⁰ Department of Gynecology and Obstetrics, Haukeland University Horpital, Bergen, Norway.
¹⁹¹ Centre for Cancer Biomarkers, Department of Clinical Sciences, University of Bergen, Bergen, Norway.
¹⁹² Radboud university medical center, Department of Gynaecology, Nijmegen, Netherlands.
¹⁹³ Radboud university medical centre, Radboud Institute for Health Sciences, Nijmegen, Netherlands.
¹⁹⁴ Netherlands Comprehensive Cancer Organisation, Utrecht, Netherlands.
¹⁹⁵ Department of Obstetrcs & Gynecology, Oregon Health & Science University.
¹⁹⁶ Knight Cancer Institute, Oregon Health & Science University, Portland, Oregon, USA.
¹⁹⁷ Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, Canada.
¹⁹⁸ Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC Canada.
¹⁹⁹ Department of Public Health Sciences, College of Medicine, Medical University of South Carolina, SC, USA.
²⁰⁰ Hollings Cancer Center, Medical University of South Carolina, SC, USA.
²⁰¹ Division of Epidemiology and Biostatistics, Department of Internal Medicine, University of New Mexico, Albuquerque, New Mexico, USA.
²⁰² Cancer Control Research, BC Cancer Agency, Vancouver, BC, Canada.
²⁰³ Department of Gynecological Surgery and Gynecological Oncology of Adults and Adolescents, Pomeranian Medical University, Szczecin, Poland.
²⁰⁴ Gyn Clinic, Rigshospitalet, University of Copenhagen, Denmark.
²⁰⁵ Department of Pathology, Rigshospitalet, University of Copenhagen, Denmark.
²⁰⁶ Department of Oncology, Rigshospitalet, University of Copenhagen, Denmark.
²⁰⁷ Department of Oncology, University of Cambridge, Strangeways Research laboratory, Cambridge, UK.
²⁰⁸ Cancer Genetics Laboratory, Research Division, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne.
²⁰⁹ Institute of Cancer Sciences, University of Glasgow, Wolfson Wohl Cancer Research Centre, Beatson Institute for Cancer Research, Glasgow, UK.
²¹⁰ The Cancer Research UK Clinical Trials Unit, Beatson West of Scotland Cancer Centre, 1053 Great Western Road, Glasgow, G12 0YN.
²¹¹ Department of Gynaecological Oncology, Glasgow Royal Infirmary.
²¹² Department of Health Research and Policy - Epidemiology, Stanford University School of Medicine, Stanford CA, USA.
²¹³ Epidemiology Center, College of Medicine, University of South Florida, Tampa, Florida, USA.
²¹⁴ Public Health Ontario, Toronto, Canada.
²¹⁵ Women's College Research Institute, University of Toronto, Toronto, Ontario, Canada.
²¹⁶ Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA.
²¹⁷ Department of Biostatistics and Bioinformatics, Moffitt Cancer Center, Tampa, FL, USA.
²¹⁸ Women's Cancer, Institute for Women's Health, UCL, London, United Kingdom.
²¹⁹ Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA.
²²⁰ Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
²²¹ Department of Pathology and Laboratory Diagnostics, The Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland.
²²² Department of Medicine, The University of Melbourne Health, Australia.
²²³ The Royal Melbourne Hospital, Victoria 3050, Australia.
²²⁴ Cancer Epidemiology Centre, Cancer Council Victoria, Victoria, Australia.

PMID: 27595995
PMCID: PMC5200636
DOI: 10.1136/jmedgenet-2016-103839

Abstract

Background: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study.

Methods: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant.

Results: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10^-5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10^-8) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants.

Conclusions: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.

Keywords: Cancer: breast; Cancer: ovary; Cancer: prostate; Genetics; cancer predisposition.

Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

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Conflict of interest statement

Conflicts of Interest: None declared.

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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