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Breast Cancer Res. 2015 Apr 25;17:61. doi: 10.1186/s13058-015-0567-2.

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.

Breast cancer research : BCR

Sophie Blein, Claire Bardel, Vincent Danjean, Lesley McGuffog, Sue Healey, Daniel Barrowdale, Andrew Lee, Joe Dennis, Karoline B Kuchenbaecker, Penny Soucy, Mary Beth Terry, Wendy K Chung, David E Goldgar, Saundra S Buys, Ramunas Janavicius, Laima Tihomirova, Nadine Tung, Cecilia M Dorfling, Elizabeth J van Rensburg, Susan L Neuhausen, Yuan Chun Ding, Anne-Marie Gerdes, Bent Ejlertsen, Finn C Nielsen, Thomas Vo Hansen, Ana Osorio, Javier Benitez, Raquel Andrés Conejero, Ena Segota, Jeffrey N Weitzel, Margo Thelander, Paolo Peterlongo, Paolo Radice, Valeria Pensotti, Riccardo Dolcetti, Bernardo Bonanni, Bernard Peissel, Daniela Zaffaroni, Giulietta Scuvera, Siranoush Manoukian, Liliana Varesco, Gabriele L Capone, Laura Papi, Laura Ottini, Drakoulis Yannoukakos, Irene Konstantopoulou, Judy Garber, Ute Hamann, Alan Donaldson, Angela Brady, Carole Brewer, Claire Foo, D Gareth Evans, Debra Frost, Diana Eccles, Fiona Douglas, Jackie Cook, Julian Adlard, Julian Barwell, Lisa Walker, Louise Izatt, Lucy E Side, M John Kennedy, Marc Tischkowitz, Mark T Rogers, Mary E Porteous, Patrick J Morrison, Radka Platte, Ros Eeles, Rosemarie Davidson, Shirley Hodgson, Trevor Cole, Andrew K Godwin, Claudine Isaacs, Kathleen Claes, Kim De Leeneer, Alfons Meindl, Andrea Gehrig, Barbara Wappenschmidt, Christian Sutter, Christoph Engel, Dieter Niederacher, Doris Steinemann, Hansjoerg Plendl, Karin Kast, Kerstin Rhiem, Nina Ditsch, Norbert Arnold, Raymonda Varon-Mateeva, Rita K Schmutzler, Sabine Preisler-Adams, Nadja Bogdanova Markov, Shan Wang-Gohrke, Antoine de Pauw, Cédrick Lefol, Christine Lasset, Dominique Leroux, Etienne Rouleau, Francesca Damiola, Hélène Dreyfus, Laure Barjhoux, Lisa Golmard, Nancy Uhrhammer, Valérie Bonadona, Valérie Sornin, Yves-Jean Bignon, Jonathan Carter, Linda Van Le, Marion Piedmonte, Paul A DiSilvestro, Miguel de la Hoya, Trinidad Caldes, Heli Nevanlinna, Kristiina Aittomäki, Agnes Jager, Ans Mw van den Ouweland, Carolien M Kets, Cora M Aalfs, Flora E van Leeuwen, Frans Bl Hogervorst, Hanne Ej Meijers-Heijboer, Jan C Oosterwijk, Kees Ep van Roozendaal, Matti A Rookus, Peter Devilee, Rob B van der Luijt, Edith Olah, Orland Diez, Alex Teulé, Conxi Lazaro, Ignacio Blanco, Jesús Del Valle, Anna Jakubowska, Grzegorz Sukiennicki, Jacek Gronwald, Jan Lubinski, Katarzyna Durda, Katarzyna Jaworska-Bieniek, Bjarni A Agnarsson, Christine Maugard, Alberto Amadori, Marco Montagna, Manuel R Teixeira, Amanda B Spurdle, William Foulkes, Curtis Olswold, Noralane M Lindor, Vernon S Pankratz, Csilla I Szabo, Anne Lincoln, Lauren Jacobs, Marina Corines, Mark Robson, Joseph Vijai, Andreas Berger, Anneliese Fink-Retter, Christian F Singer, Christine Rappaport, Daphne Geschwantler Kaulich, Georg Pfeiler, Muy-Kheng Tea, Mark H Greene, Phuong L Mai, Gad Rennert, Evgeny N Imyanitov, Anna Marie Mulligan, Gord Glendon, Irene L Andrulis, Sandrine Tchatchou, Amanda Ewart Toland, Inge Sokilde Pedersen, Mads Thomassen, Torben A Kruse, Uffe Birk Jensen, Maria A Caligo, Eitan Friedman, Jamal Zidan, Yael Laitman, Annika Lindblom, Beatrice Melin, Brita Arver, Niklas Loman, Richard Rosenquist, Olufunmilayo I Olopade, Robert L Nussbaum, Susan J Ramus, Katherine L Nathanson, Susan M Domchek, Timothy R Rebbeck, Banu K Arun, Gillian Mitchell, Beth Y Karlan, Jenny Lester, Sandra Orsulic, Dominique Stoppa-Lyonnet, Gilles Thomas, Jacques Simard, Fergus J Couch, Kenneth Offit, Douglas F Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Sylvie Mazoyer, Catherine M Phelan, Olga M Sinilnikova, David G Cox

Affiliations

  1. INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France. [email protected].
  2. Université de Lyon, 69000, Lyon, France. [email protected].
  3. Université Lyon 1, 69100, Villeurbanne, France. [email protected].
  4. Université de Lyon, 69000, Lyon, France. [email protected].
  5. Université Lyon 1, 69100, Villeurbanne, France. [email protected].
  6. UMR CNRS 5558, Laboratoire de Biométrie et Biologie Évolutive (LBBE), "Biométrie et Biologie Évolutive", Université Claude Bernard Lyon 1, Bâtiment Grégor Mendel, 43 boulevard du 11 novembre 1918, 69622, Villeurbanne, cedex, France. [email protected].
  7. Université Grenoble Alpes, UMR 5217, Laboratoire d'Informatique de Grenoble (LIG), équipe-projet Multi-programmation et Ordonnancement sur ressources pour les Applications Interactives de Simulation (MOAIS), 38041, Grenoble, France. [email protected].
  8. INRIA Rhône-Alpes, équipe-projet MOAIS, 38334, Saint Ismier, Cedex, France. [email protected].
  9. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [email protected].
  10. Department of Genetics and Computational Biology, QIMR Berghofer, Brisbane, Australia. [email protected].
  11. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [email protected].
  12. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [email protected].
  13. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [email protected].
  14. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [email protected].
  15. Centre de recherche du Centre hospitalier universitaire de Québec, Laval University, Charlesbourg, PQ, Canada. [email protected].
  16. Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA. [email protected].
  17. Department of Pediatrics, Columbia University College of Physicians and Surgeons, New York, NY, USA. [email protected].
  18. Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA. [email protected].
  19. Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT, USA. [email protected].
  20. Department of Internal Medicine, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA. [email protected].
  21. Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania. [email protected].
  22. Department of Molecular and Regenerative Medicine, Centre for Innovative Medicine, State Research Institute, Vilnius, Lithuania. [email protected].
  23. Latvian Biomedical Research and Study Centre, R?tsup?tes iela 1, R?ga, LV-1067, Latvia. [email protected].
  24. Division of Hematology Oncology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Shapiro 9, Boston, MA, 02215-5400, USA. [email protected].
  25. Department of Genetics, University of Pretoria, Private Bag X20, Hatfield, 0028, Pretoria, South Africa. [email protected].
  26. Department of Genetics, University of Pretoria, Private Bag X20, Hatfield, 0028, Pretoria, South Africa. [email protected].
  27. Department of Population Sciences, Beckman Research Institute, City of Hope, 1500 East Duarte Road, Duarte, CA, 91010, USA. [email protected].
  28. Department of Population Sciences, Beckman Research Institute, City of Hope, 1500 East Duarte Road, Duarte, CA, 91010, USA. [email protected].
  29. Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. [email protected].
  30. Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. [email protected].
  31. Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. [email protected].
  32. Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. [email protected].
  33. Human Genetics Group, Spanish National Cancer Research Center (CNIO), Madrid, Spain. [email protected].
  34. Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain. [email protected].
  35. Human Genetics Group, Spanish National Cancer Research Center (CNIO), Madrid, Spain. [email protected].
  36. Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain. [email protected].
  37. Medical Oncology Service, Hospital Clínico Universitario Lozano Blesa, Avenida San Juan Bosco, 15, 50009, Zaragoza, Spain. [email protected].
  38. Holy Cross Hospital, Michael and Dianne Bienes Comprehensive Cancer Center, Fort Lauderdale, FL, USA. [email protected].
  39. Clinical Cancer Genetics Community Research Network, City of Hope, 1500 East Duarte Road, Duarte, CA, 91010, USA. [email protected].
  40. Division of Clinical Cancer Genetics, City of Hope (for the Clinical Cancer Genetics Community Research Network), City of Hope, 1500 East Duarte Road, Duarte, CA, 91010, USA. [email protected].
  41. John Muir Medical Center, Walnut Creek, CA, USA; c/o Clinical Cancer Genetics Community Research Network, City of Hope, 1500 East Duarte Road, Duarte, CA, 91010, USA. [email protected].
  42. Istituto FIRC di Oncologia Molecolare (IFOM), Via Adamello 16, 20139, Milan, Italy. [email protected].
  43. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Nazionale dei Tumori (INT), Via Venezian 1, 20133, Milan, Italy. [email protected].
  44. Division of Clinical Cancer Genetics, City of Hope (for the Clinical Cancer Genetics Community Research Network), City of Hope, 1500 East Duarte Road, Duarte, CA, 91010, USA. [email protected].
  45. Cogentech Cancer Genetic Test Laboratory, Via Adamello 16, 20139, Milan, Italy. [email protected].
  46. Cancer Bioimmunotherapy Unit, Centro di Riferimento Oncologico (CRO), Via Franco Gallini 2, 33081, Aviano, Italy. [email protected].
  47. Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Via Ripamonti 435, 20141, Milan, Italy. [email protected].
  48. Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Nazionale dei Tumori (INT), Via Venezian 1, 20133, Milan, Italy. [email protected].
  49. Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Nazionale dei Tumori (INT), Via Venezian 1, 20133, Milan, Italy. [email protected].
  50. Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Nazionale dei Tumori (INT), Via Venezian 1, 20133, Milan, Italy. [email protected].
  51. Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Nazionale dei Tumori (INT), Via Venezian 1, 20133, Milan, Italy. [email protected].
  52. Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Azienda Ospedaliera Universitaria "San Martino" di Genova, IST Istituto Nazionale per la Ricerca sul Cancro, Largo Rosanna Benzi, 10, 16132, Genoa, Italy. [email protected].
  53. FiorGen Foundation for Pharmacogenomics, Via Luigi Sacconi 6, 50019, Sesto Fiorentino, Italy. [email protected].
  54. Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy. [email protected].
  55. Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy. [email protected].
  56. Department of Molecular Medicine, Sapienza University, Rome, Italy. [email protected].
  57. Department of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece. [email protected].
  58. Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research "Demokritos", Aghia Paraskevi Attikis, Athens, Greece. [email protected].
  59. Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA, 02215, USA. [email protected].
  60. Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany. [email protected].
  61. Clinical Genetics Department, St Michael's Hospital, Southwell Street, Bristol, BS2 8EG, UK. [email protected].
  62. North West Thames Regional Genetics Service, Kennedy-Galton Centre, Harrow, UK. [email protected].
  63. Department of Clinical Genetics, Royal Devon & Exeter Hospital, Barrack Road, Exeter, EX2 5DW, UK. [email protected].
  64. Merseyside and Cheshire Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Crown Street, Liverpool, Merseyside, L8 7SS, UK. [email protected].
  65. Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK. [email protected].
  66. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Strangeways Research Laboratory, University of Cambridge, Worts Causeway, Cambridge, CB1 8RN, UK. [email protected].
  67. Faculty of Medicine, University of Southampton, Southampton University Hospitals NHS Trust, Mailpoint 801, South Academic Block, PAH/G/MP105, Tremona Road, Southampton, SO16 6YD, UK. [email protected].
  68. Institute of Human Genetics, Northern Genetic Service, International Centre for Life, Newcastle upon Tyne Hospitals NHS Trust, Central Parkway, Newcastle upon Tyne, NE1 4EP, UK. [email protected].
  69. Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK. [email protected].
  70. Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Old Medical School, Leeds General Infirmary, Leeds, LS1 3EX, UK. [email protected].
  71. Leicestershire Clinical Genetics Service, Department of Clinical Genetics, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester, LE1 5WW, UK. [email protected].
  72. Oxford Regional Genetics Service, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LE, UK. [email protected].
  73. Clinical Genetics Service, Guy's and St Thomas' NHS Foundation Trust, 7th floor, Borough Wing, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK. [email protected].
  74. North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, Barclay House, 37, Queen Square, London, WC1N 3BH, UK. [email protected].
  75. North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, Barclay House, 37, Queen Square, London, WC1N 3BH, UK. [email protected].
  76. Academic Unit of Clinical and Molecular Oncology, Trinity College Dublin, College Green, Dublin 2, Ireland. [email protected].
  77. Medical Oncology Service, St James's Hospital, James's Street, Dublin 8, Ireland. [email protected].
  78. Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrooke's Hospital, Level 6, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK. [email protected].
  79. All Wales Medical Genetics Services, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK. [email protected].
  80. South East Scotland Regional Genetic Service, Western General Hospital, David Brock Building, Crewe Road South, Edinburgh, EH4 2XU, UK. [email protected].
  81. Centre for Cancer Research & Cell Biology, School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, 97 Lisburn Road, Belfast, BT9 7AE, UK. [email protected].
  82. Department of Medical Genetics, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, UK. [email protected].
  83. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Strangeways Research Laboratory, University of Cambridge, Worts Causeway, Cambridge, CB1 8RN, UK. [email protected].
  84. Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, 123 Old Brompton Road, London, SW7 3RP, UK. [email protected].
  85. Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Block 4, Glasgow, G3 8SJ, UK. [email protected].
  86. South West Thames Regional Genetics Service, Department of Medical Genetics, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK. [email protected].
  87. West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Mindelsohn Way, Edgbaston, Birmingham, B15 2TG, UK. [email protected].
  88. Department of Pathology & Laboratory Medicine, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, KS, 66160, USA. [email protected].
  89. Lombardi Comprehensive Cancer Center, MedStar Georgetown University Hospital, 3800 Reservoir Road NW, Washington, DC, 20057, USA. [email protected].
  90. Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium. [email protected].
  91. Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium. [email protected].
  92. Division of Tumor Genetics, Department of Gynaecology and Obstetrics, University Hospital Klinikum Rechts der Isar, Technische Universität München, Ismaninger Strasse 22, 81675, Munich, Germany. [email protected].
  93. Center of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institut für Humangenetik, Biozentrum, Universität Würzburg, Am Hubland, 97074, Würzburg, Germany. [email protected].
  94. Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, Center for Integrated Oncology (CIO) Cancer Center Cologne, University Hospital Cologne, Cologne, Germany. [email protected].
  95. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Strasse 21, 50931, Cologne, Germany. [email protected].
  96. Department of Human Genetics, Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany. [email protected].
  97. Institute for Medical Informatics, Statistics and Epidemiology, Medical Faculty, University of Leipzig, Leipzig, Germany. [email protected].
  98. Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany. [email protected].
  99. Institute of Cell and Molecular Pathology, Centre for Pathology and Forensic and Genetic Medicine, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany. [email protected].
  100. Institute of Human Genetics, University Medical Center Schleswig-Holstein, Campus Kiel, Arnold-Heller-Strasse 3, D-24105, Kiel, Germany. [email protected].
  101. Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus of Dresden, Technical University Dresden, Dresden, Germany. [email protected].
  102. Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, Center for Integrated Oncology (CIO) Cancer Center Cologne, University Hospital Cologne, Cologne, Germany. [email protected].
  103. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Strasse 21, 50931, Cologne, Germany. [email protected].
  104. Division of Tumor Genetics, Department of Gynaecology and Obstetrics, University Hospital Klinikum Rechts der Isar, Technische Universität München, Ismaninger Strasse 22, 81675, Munich, Germany. [email protected].
  105. Department of Gynecology and Obstetrics, University Medical Center Schleswig-Holstein, Campus Kiel, Arnold-Heller-Strasse 3, D-24105, Kiel, Germany. [email protected].
  106. Institute of Medical Genetics and Human Genetics, Campus Virchow-Klinikum, Charité Berlin - Universtitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. [email protected].
  107. Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, Center for Integrated Oncology (CIO) Cancer Center Cologne, University Hospital Cologne, Cologne, Germany. [email protected].
  108. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Strasse 21, 50931, Cologne, Germany. [email protected].
  109. German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC), Cologne, Germany. [email protected].
  110. Institute of Human Genetics, University Hospital Münster, Vesaliusweg 12-14, 48149, Münster, Germany.
  111. Institute of Human Genetics, University Hospital Münster, Vesaliusweg 12-14, 48149, Münster, Germany. [email protected].
  112. Department of Gynecology and Obstetrics, University Hospital Ulm, Ulm, Germany. [email protected].
  113. Department of Tumour Biology, Institut Curie, 26 rue d'Ulm 75248, Paris, cedex 05, France. [email protected].
  114. Department of Tumour Biology, Institut Curie, 26 rue d'Ulm 75248, Paris, cedex 05, France. [email protected].
  115. UMR CNRS 5558, Laboratoire de Biométrie et Biologie Évolutive (LBBE), "Biométrie et Biologie Évolutive", Université Claude Bernard Lyon 1, Bâtiment Grégor Mendel, 43 boulevard du 11 novembre 1918, 69622, Villeurbanne, cedex, France. [email protected].
  116. Unité de Prévention et d'Épidémiologie Génétique, Centre Léon Bérard, 28 rue Laenned, 69008, Lyon, France. [email protected].
  117. Génétique Clinique, Centre Hospitalier Universitaire de Grenoble, CS 10217, 38043, Grenoble, cedex 9, France. [email protected].
  118. Institut Albert Bonniot - Inserm U823, Université Joseph Fourier, Rond-point de la Chantourne, 38706, La Tronche, France. [email protected].
  119. Laboratoire d'Oncogénétique, Hôpital René Huguenin, Institut Curie, 35 rue Dailly, 92210, Saint-Cloud, France. [email protected].
  120. INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France. [email protected].
  121. Génétique Clinique, Centre Hospitalier Universitaire de Grenoble, CS 10217, 38043, Grenoble, cedex 9, France. [email protected].
  122. Institut Albert Bonniot - Inserm U823, Université Joseph Fourier, Rond-point de la Chantourne, 38706, La Tronche, France. [email protected].
  123. INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France. [email protected].
  124. Department of Tumour Biology, Institut Curie, 26 rue d'Ulm 75248, Paris, cedex 05, France. [email protected].
  125. Département d'Oncogénétique, Centre Jean Perrin, Université de Clermont-Ferrand, 58 rue Montalembert, BP 392, 63011, Clermont-Ferrand, France. [email protected].
  126. UMR CNRS 5558, Laboratoire de Biométrie et Biologie Évolutive (LBBE), "Biométrie et Biologie Évolutive", Université Claude Bernard Lyon 1, Bâtiment Grégor Mendel, 43 boulevard du 11 novembre 1918, 69622, Villeurbanne, cedex, France. [email protected].
  127. Unité de Prévention et d'Épidémiologie Génétique, Centre Léon Bérard, 28 rue Laenned, 69008, Lyon, France. [email protected].
  128. INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France. [email protected].
  129. Département d'Oncogénétique, Centre Jean Perrin, Université de Clermont-Ferrand, 58 rue Montalembert, BP 392, 63011, Clermont-Ferrand, France. [email protected].
  130. Gynaecological Oncology, Sydney Cancer Centre, Royal Prince Alfred Hospital and University of Sydney, Missenden Road, Camperdown, NSW, 2050, Australia. [email protected].
  131. Gynecologic Oncology Group, Department of OB-GYN, University of North Carolina at Chapel Hill, 103B Physicians' Office Building, CB# 7572, Chapel Hill, NC, 27599-7572, USA. [email protected].
  132. Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY, 14263-0001, USA. [email protected].
  133. Women & Infants Hospital, 1 Blackstone Place, Providence, RI, 02905, USA. [email protected].
  134. Molecular Oncology Laboratory, Health Research Institute of the San Carlos Clinical Hospital (IdISSC), 28040, Madrid, Spain. [email protected].
  135. Molecular Oncology Laboratory, Health Research Institute of the San Carlos Clinical Hospital (IdISSC), 28040, Madrid, Spain. [email protected].
  136. Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, PO Box 700, 00029, Helsinki, Finland. [email protected].
  137. Department of Clinical Genetics, Helsinki University Central Hospital, Biomedicum Helsinki 1, Haartmaninkatu 8, 00290, Helsinki, Finland. [email protected].
  138. Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, PO Box 2040, 3000, CA, Rotterdam, the Netherlands. [email protected].
  139. Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, the Netherlands. [email protected].
  140. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands. [email protected].
  141. Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands. [email protected].
  142. Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, the Netherlands. [email protected].
  143. Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, the Netherlands. [email protected].
  144. Department of Clinical Genetics, VU University Medical Center Amsterdam, De Boelelaan 1118, 1081 HV, Amsterdam, the Netherlands. [email protected].
  145. Department of Genetics, University Medical Center, Groningen University, Groningen, the Netherlands. [email protected].
  146. Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands. [email protected].
  147. Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, the Netherlands. [email protected].
  148. Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, S4-P PO Box 9600, 2300, RC, Leiden, the Netherlands. [email protected].
  149. Department of Pathology, Leiden University Medical Center, PO Box 9600, 2300 RC L1Q, Leiden, the Netherlands. [email protected].
  150. Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands. [email protected].
  151. Department of Molecular Genetics, National Institute of Oncology, Ráth György u 7-9, PO Box 1525 Budapest PF 21, 1122, Budapest, Hungary. [email protected].
  152. Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, Vall d'Hebron Research Institute (VHIR) and Universitat Autònoma de Barcelona, Passeig de la Vall d'Hebron 119, 08035, Barcelona, Spain. [email protected].
  153. Genetic Counseling Unit, Hereditary Cancer Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL)-Catalan Institute of Oncology, Hospital Duran i Reynals, 3a planta - Gran Via de l'Hospitalet, 199, 08908, Hospitalet de Llobregat, Barcelona, Spain. [email protected].
  154. Molecular Diagnostic Unit, Hereditary Cancer Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL)-Catalan Institute of Oncology, Hospital Duran i Reynals, 3a planta - Gran Via de l'Hospitalet, 199, 08908, Hospitalet de Llobregat, Barcelona, Spain. [email protected].
  155. Genetic Counseling Unit, Hereditary Cancer Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL)-Catalan Institute of Oncology, Hospital Duran i Reynals, 3a planta - Gran Via de l'Hospitalet, 199, 08908, Hospitalet de Llobregat, Barcelona, Spain. [email protected].
  156. Molecular Diagnostic Unit, Hereditary Cancer Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL)-Catalan Institute of Oncology, Hospital Duran i Reynals, 3a planta - Gran Via de l'Hospitalet, 199, 08908, Hospitalet de Llobregat, Barcelona, Spain. [email protected].
  157. Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111, Szczecin, Poland. [email protected].
  158. Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111, Szczecin, Poland. [email protected].
  159. Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111, Szczecin, Poland. [email protected].
  160. Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111, Szczecin, Poland. [email protected].
  161. Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111, Szczecin, Poland. [email protected].
  162. Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111, Szczecin, Poland. [email protected].
  163. Landspítali National University Hospital of Iceland and Faculty of Medicine, School of Health Sciences, University of Iceland School of Medicine, Sæmundargötu 2, 101, Reykjavik, Iceland. [email protected].
  164. Laboratoire de diagnostic génétique et Service d'Onco-hématologie, Les Hopitaux Universitaire de Strasbourg, Nouvel Hôpital Civil, 1 place de l'Hôpital, BP 426, 67091, Strasbourg, France. [email protected].
  165. Department of Surgical Sciences, Oncology and Gastroenterology, Padua University, Clinical Surgery II, via Giustiniani 2, 35124, Padua, Italy. [email protected].
  166. Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), via Gattamelata 64, 35128, Padua, Italy. [email protected].
  167. Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), via Gattamelata 64, 35128, Padua, Italy. [email protected].
  168. Department of Genetics, Portuguese Oncology Institute (IPO-PORTO), Edifício dos Laboratórios, piso 6, 4200-072, Porto, Portugal. [email protected].
  169. Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Instituto de Ciências Biomédicas Abel Salazar da Universidade do Porto, Rua de Jorge Viterbo Ferreira 228, 4050-313, Porto, Portugal. [email protected].
  170. Department of Genetics and Computational Biology, QIMR Berghofer, Brisbane, Australia. [email protected].
  171. Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, 546 Pine Avenue West, Montreal, QC, J2W 1S6, Canada. [email protected].
  172. Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. [email protected].
  173. Department of Health Sciences Research, Mayo Clinic, 13400 East Shea Boulevard, Scottsdale, AZ, 85259, USA. [email protected].
  174. Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. [email protected].
  175. National Human Genome Research Institute, National Institutes of Health, Building 31, Room 4B09, 31 Center Drive, MSC 2152, 9000 Rockville Pike, Bethesda, MD, 20892-2152, USA. [email protected].
  176. Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, 10065, USA. [email protected].
  177. Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, 10065, USA. [email protected].
  178. Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, 10065, USA. [email protected].
  179. Clinical Genetics Research Laboratory, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, 10065, USA. [email protected].
  180. Clinical Genetics Research Laboratory, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, 10065, USA. [email protected].
  181. Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090, Vienna, Austria. [email protected].
  182. Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090, Vienna, Austria. [email protected].
  183. Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090, Vienna, Austria. [email protected].
  184. Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090, Vienna, Austria. [email protected].
  185. Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090, Vienna, Austria. [email protected].
  186. Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090, Vienna, Austria. [email protected].
  187. Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090, Vienna, Austria. [email protected].
  188. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. [email protected].
  189. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. [email protected].
  190. Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Via Ripamonti 435, 20141, Milan, Italy. [email protected].
  191. National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Clalit Health Services Carmel Medical Center, 34361, Haifa, Israel. [email protected].
  192. Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, 2 Horev Street, 34362, Haifa, Israel. [email protected].
  193. NN Petrov Institute of Oncology, 68 Leningradskaya Street, Pesochny, 197758, St Petersburg, Russia. [email protected].
  194. Department of Laboratory Medicine and Pathobiology, University of Toronto, Medical Sciences Building, 6th Floor, 1 King's College Circle, Toronto, ON, M5S 1A8, Canada. [email protected].
  195. Keenan Research Centre, Li Ka Shing Knowledge Institute, St Michael's Hospital, 209 Victoria Street, Toronto, ON, M5B 1T8, Canada. [email protected].
  196. Ontario Cancer Genetics Network, Cancer Care Ontario, 620 University Avenue, Toronto, ON, M5G 2L7, Canada. [email protected].
  197. Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital Joseph and Wolf Lebovic Health Complex, 600 University Avenue, Toronto, ON, M5G 1X5, Canada. [email protected].
  198. Department of Laboratory Medicine and Pathobiology, University of Toronto, Medical Sciences Building, 6th Floor, 1 King's College Circle, Toronto, ON, M5S 1A8, Canada. [email protected].
  199. Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital Joseph and Wolf Lebovic Health Complex, 600 University Avenue, Toronto, ON, M5G 1X5, Canada. [email protected].
  200. Department of Molecular Genetics, University of Toronto, Medical Science Building, Room 4386, 1 King's College Circle, Toronto, ON, M5S 1A8, Canada. [email protected].
  201. Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital Joseph and Wolf Lebovic Health Complex, 600 University Avenue, Toronto, ON, M5G 1X5, Canada. [email protected].
  202. Department of Human Cancer Genetics, 1093 Biomedical Research Tower, 460 West 12th Avenue, Columbus, OH, 43210, USA. [email protected].
  203. Department of Internal Medicine, The Ohio State University Wexner Medical Center, North Doan Tower, 395 West 12th Avenue, Columbus, OH, 43210, USA. [email protected].
  204. Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University Wexner Medical Center, 1093 Biomedical Research Tower, 460 West 12th Avenue, Columbus, OH, 43210, USA. [email protected].
  205. The Ohio State University Comprehensive Cancer Center - Arthur G James Cancer Hospital and Richard J Solove Research Institute (OSUCCC - James), 460 West 10th Avenue, Columbus, OH, 43210, USA. [email protected].
  206. Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Hobrovej 18, 9000, Aalborg, Denmark. [email protected].
  207. Department of Clinical Genetics, Odense University Hospital, Soenderboulevard 29, 5000, Odense C, Denmark. [email protected].
  208. Department of Clinical Genetics, Odense University Hospital, Soenderboulevard 29, 5000, Odense C, Denmark. [email protected].
  209. Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgårdsvej 21 C, 8200, Aarhus N, Denmark. [email protected].
  210. Laboratorio di Genetica Oncologica, Divisione di Anatomia Patologica e di Diagnostica Molecolare ed Ultrastrutturale, Azienda Ospedaliero Universitaria Pisana - Ospedale S Chiara, via Roma 67, 56126, Pisa, Italy. [email protected].
  211. Sheba Laboratory of Molecular Genetics, The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, 52621, Tel Aviv, Israel. [email protected].
  212. Institute of Oncology, Rivka Ziv Medical Center, Maimonides, 13100, Safed, Israel. [email protected].
  213. Sheba Laboratory of Molecular Genetics, The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, 52621, Tel Aviv, Israel. [email protected].
  214. Department of Cancer Genetics, Karolinska University Hospital, Solna L8:02, SE-171 76, Stockholm, Sweden. [email protected].
  215. Oncology, Department of Radiation Sciences, Umeå University, SE-901 87, Umeå, Sweden. [email protected].
  216. Department of Oncology-Pathology, Karolinska University Hospital, K7, Ärftlighetsmottagningen, Radiumhemmet, 171 76, Stockholm, Sweden. [email protected].
  217. Division of Oncology and Pathology, Department of Clinical Sciences, Lund University Hospital, Barngatan 2B, SE-221 85, Lund, Sweden. [email protected].
  218. Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 751 85, Uppsala, Sweden. [email protected].
  219. Center for Clinical Cancer Genetics and Global Health, The University of Chicago, 5841 South Maryland Avenue, Chicago, IL, 60637, USA. [email protected].
  220. Department of Medicine and Genetics, University of California, San Francisco, CA, USA. [email protected].
  221. Department of Preventive Medicine, Keck School of Medicine, University of Southern California, 1441 Eastlake Avenue, Norris Comprehensive Cancer Center, NOR-4435, Los Angeles, CA, 90089-9175, USA. [email protected].
  222. Department of Medicine, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Suite 750, Philadelphia, PA, 19104-3309, USA. [email protected].
  223. Department of Medicine, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Suite 750, Philadelphia, PA, 19104-3309, USA. [email protected].
  224. Department of Epidemiology and Biostatistics, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Suite 750, Philadelphia, PA, 19104-3309, USA. [email protected].
  225. Division of Cancer Medicine, Department of Breast Medical Oncology, The University of Texas MD Anderson Cancer Center, Unit 1354, PO Box 301439, Houston, TX, 77230-1439, USA. [email protected].
  226. Sir Peter MacCallum Department of Oncology, Familial Cancer Centre, Peter MacCallum Cancer Centre, level 3, 10 St Andrews Place, East Melbourne, VIC, 3002, Australia. [email protected].
  227. Sir Peter MacCallum Department of Oncology, The University of Melbourne, Level 5, 161 Barry Street, Parkville, 3010, VIC, Australia. [email protected].
  228. Women's Cancer Program, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA, 90048, USA. [email protected].
  229. Women's Cancer Program, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA, 90048, USA. [email protected].
  230. Women's Cancer Program, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA, 90048, USA. [email protected].
  231. Department of Tumour Biology, Institut Curie, 26 rue d'Ulm 75248, Paris, cedex 05, France. [email protected].
  232. Service de génétique oncologique, Institut Curie, Inserm U830, 26 rue d'Ulm, 75248, Paris, France. [email protected].
  233. Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, 15 rue de l'école de médecine, 75006, Paris, France. [email protected].
  234. Génétique médicale, Faculté de Médecine Lyon Est, Université Claude Bernard Lyon 1, 8 avenue Rockefeller, 69373, Lyon, Cedex 08, France.
  235. Institut National du Cancer (INCa), La Fondation Synergie Lyon Cancer, Centre Léon Bérard, 28 rue Laënnec, 69008, Lyon, Cedex 08, France.
  236. Centre de recherche du Centre hospitalier universitaire de Québec, Laval University, Charlesbourg, PQ, Canada. [email protected].
  237. Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. [email protected].
  238. Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. [email protected].
  239. Clinical Genetics Research Laboratory, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, 10065, USA. [email protected].
  240. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [email protected].
  241. Department of Genetics and Computational Biology, QIMR Berghofer, Brisbane, Australia. [email protected].
  242. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [email protected].
  243. INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France. [email protected].
  244. Université de Lyon, 69000, Lyon, France. [email protected].
  245. Université Lyon 1, 69100, Villeurbanne, France. [email protected].
  246. Department of Cancer Epidemiology, Moffitt Cancer Center, 12902 Magnolia Drive, Tampa, FL, 33612, USA. [email protected].
  247. INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
  248. Université de Lyon, 69000, Lyon, France.
  249. Université Lyon 1, 69100, Villeurbanne, France.
  250. Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon - Centre Léon Bérard, 69373, Lyon, Cedex 08, France.
  251. INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France. [email protected].
  252. Université de Lyon, 69000, Lyon, France. [email protected].
  253. Université Lyon 1, 69100, Villeurbanne, France. [email protected].

PMID: 25925750 PMCID: PMC4478717 DOI: 10.1186/s13058-015-0567-2

Abstract

INTRODUCTION: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers.

METHODS: We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals.

RESULTS: We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk.

CONCLUSIONS: This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.

References

  1. Genet Epidemiol. 2009 Dec;33(8):729-39 - PubMed
  2. Int J Oncol. 2014 May;44(5):1691-8 - PubMed
  3. PLoS Genet. 2013;9(3):e1003173 - PubMed
  4. Genet Epidemiol. 2005 Jul;29(1):1-11 - PubMed
  5. J Physiol Anthropol. 2014;33:27 - PubMed
  6. J Mammary Gland Biol Neoplasia. 2011 Apr;16(1):3-15 - PubMed
  7. J Mol Med (Berl). 1996 Jun;74(6):297-312 - PubMed
  8. PLoS Genet. 2013;9(3):e1003212 - PubMed
  9. Fam Cancer. 2008;7(3):233-44 - PubMed
  10. Cancer Res. 2005 Sep 1;65(17):7612-21 - PubMed
  11. Cancer Res. 2001 Oct 15;61(20):7623-6 - PubMed
  12. Toxicol Pathol. 2010 Jan;38(1):96-109 - PubMed
  13. Am J Hum Genet. 2012 Apr 6;90(4):675-84 - PubMed
  14. Proc Natl Acad Sci U S A. 1988 May;85(9):3044-8 - PubMed
  15. BMC Cancer. 2008;8:155 - PubMed
  16. Proc Natl Acad Sci U S A. 2003 Jan 7;100(1):171-6 - PubMed
  17. Am J Hum Genet. 2007 Dec;81(6):1186-200 - PubMed
  18. PLoS One. 2013;8(7):e69485 - PubMed
  19. Mol Biol Evol. 2007 Aug;24(8):1586-91 - PubMed
  20. Oncogene. 2006 Aug 7;25(34):4647-62 - PubMed
  21. Science. 1994 Oct 7;266(5182):66-71 - PubMed
  22. PLoS One. 2014;9(2):e99003 - PubMed
  23. Pathol Oncol Res. 2011 Sep;17(3):735-42 - PubMed
  24. Adv Exp Med Biol. 2008;622:53-67 - PubMed
  25. Biochim Biophys Acta. 2014 Feb;1842(2):208-19 - PubMed
  26. Nat Genet. 2013 Apr;45(4):343 - PubMed
  27. Cancer Res. 2006 Feb 1;66(3):1880; author reply 1880-1 - PubMed
  28. Neurosci Lett. 2004 Jul 15;365(1):28-32 - PubMed
  29. Cancer Epidemiol Biomarkers Prev. 2011 Jun;20(6):1131-45 - PubMed
  30. Ann Oncol. 2013 Nov;24 Suppl 8:viii83-viii95 - PubMed
  31. Gene. 2013 Dec 1;531(2):370-6 - PubMed
  32. J Natl Cancer Inst. 2006 Dec 6;98(23):1694-706 - PubMed
  33. J Hum Genet. 2014 Feb;59(2):66-77 - PubMed
  34. Genes Immun. 2009 Sep;10(6):601-5 - PubMed
  35. Bioinformatics. 2006 Jun 1;22(11):1402-3 - PubMed
  36. Hum Mutat. 2009 Feb;30(2):E386-94 - PubMed
  37. Exp Cell Res. 2013 Mar 10;319(5):575-87 - PubMed
  38. Hum Mutat. 2003 Aug;22(2):173-4 - PubMed
  39. PLoS One. 2012;7(2):e30874 - PubMed
  40. J Natl Cancer Inst. 2006 Oct 4;98(19):1382-96 - PubMed
  41. Breast Cancer Res Treat. 2010 Jun;121(2):511-8 - PubMed
  42. Science. 1990 Dec 21;250(4988):1684-9 - PubMed
  43. Int J Cardiol. 2006 Sep 20;112(2):202-6 - PubMed
  44. Cancer Res. 2007 May 15;67(10):4687-94 - PubMed
  45. PLoS Genet. 2014 Apr;10(4):e1004256 - PubMed
  46. Cancer Epidemiol Biomarkers Prev. 2008 Aug;17(8):2052-61 - PubMed
  47. Breast Cancer Res. 2007;9(2):104 - PubMed
  48. Am J Hum Genet. 2003 May;72(5):1117-30 - PubMed
  49. Biomed Rep. 2013 Jul;1(4):563-566 - PubMed

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