dc.description |
Conceived and designed the experiments: P Hall, FJ Couch, J Simard, D
Altshuler, DF Easton, G Chenevix-Trench, AC Antoniou, K Offit. Performed the experiments: MM Gaudet, KB Kuchenbaecker, J Vijai, RJ
Klein, T Kirchhoff. Analyzed the data: MM Gaudet, KB Kuchenbaecker,
J Vijai, RJ Klein, L McGuffog, D Barrowdale, AM Dunning, J Simard, D
Altshuler, DF Easton, AC Antoniou, K Offit. Contributed reagents/
materials/analysis tools: L McGuffog, D Barrowdale, AM Dunning, A Lee,
J Dennis, S Healey, E Dicks, P Soucy, OM Sinilnikova, VS Pankratz, X
Wang, RC Eldridge, DC Tessier, D Vincent, F Bacot, FBL Hogervorst, S
Peock, D Stoppa-Lyonnet, P Peterlongo, RK Schmutzler, KL Nathanson,
M Piedmonte, CF Singer, M Thomassen, TvO Hansen, SL Neuhausen, I
Blanco, MH Greene, J Garber, JN Weitzel, IL Andrulis, DE Goldgar, E
D’Andrea, T Caldes, H Nevanlinna, A Osorio, EJ van Rensburg, A
Arason, G Rennert, AMW van den Ouweland, AH van der Hout, CM
Kets, CM Aalfs, JT Wijnen, MGEM Ausems, D Frost, S Ellis, E Fineberg,
R Platte, DG Evans, C Jacobs, J Adlard, M Tischkowitz, ME Porteous, F
Damiola, L Golmard, L Barjhoux, M Longy, M Belotti, SF Ferrer, S
Mazoyer, AB Spurdle, S Manoukian, M Barile, M Genuardi, N Arnold, A
Meindl, C Sutter, B Wappenschmidt, SM Domchek, G Pfeiler, E
Friedman, UB Jensen, M Robson, S Shah, C Lazaro, PL Mai, J Benitez,
MC Southey, MK Schmidt, PA Fasching, J Peto, MK Humphreys, Q
Wang, K Michailidou, EJ Sawyer, B Burwinkel, P Gue´nel, SE Bojesen, RL
Milne, H Brenner, M Lochmann, K Aittoma¨ ki, T Do¨rk, S Margolin, A
Mannermaa, D Lambrechts, J Chang-Claude, P Radice, GG Giles, CA
Haiman, R Winqvist, P Devillee, M Garcı´a-Closas, N Schoof, MJ
Hooning, A Cox, PDP Pharoah, A Jakubowska, N Orr, A Gonza´lez-Neira,
G Pita, MR Alonso, P Hall, FJ Couch, DF Easton, G Chenevix-Trench,
AC Antoniou, K Offit. Wrote the paper: MM Gaudet, KB Kuchenbaecker,
J Vijai, RJ Klein, AC Antoniou, K Offit. |
en_US |
dc.description.sponsorship |
This work was supported by the following institutions: iCOGS: The creation of the custom Illumina multiplex chip and the genotyping of the BRCA2
carriers in CIMBA was made possible by grants from the Starr Cancer Consortium I4-A402 (PI: K Offit), the Sandra Taub Memorial Fund of the Breast Cancer
Research Foundation (PI: K Offit), the Norman and Carol Stone Cancer Genetics Fund (PI: K Offit), and the European Commission’s Seventh Framework Programme
grant agreement 223175 (HEALTH-F2-2009-223175). AC Antoniou is a Cancer Research UK Senior Cancer Research Fellow. G Chenevix-Trench is an NHMRC Senior
Principal Research Fellow. Consortium of Modifiers of BRCA1/2 Associations: The CIMBA data management and data analysis were supported by Cancer Research
UK grants C12292/A11174 and C1287/A10118. S Healey is supported by an NHMRC Program Grant to G Chenevix-Trench. AC Antoniou is a Cancer Research UK
Senior Cancer Research Fellow. G Chenevix-Trench is an NHMRC Senior Principal Research Fellow. Amsterdam Breast Cancer Study: The ABCS study was
supported by the Dutch Cancer Society [grants NKI 2007-3839; 2009 4363]; BBMRI-NL, which is a Research Infrastructure financed by the Dutch government (NWO
184.021.007); and the Dutch National Genomics Initiative. Bavarian Breast Cancer Cases and Controls: The work of the BBCC was partly funded by ELAN–Fond of
the University Hospital of Erlangen. British Breast Cancer Study: The BBCS is funded by Cancer Research UK and Breakthrough Breast Cancer and acknowledges
NHS funding to the NIHR Biomedical Research Centre, and the National Cancer Research Network (NCRN). Breast Cancer Family Registry Studies: The Australian
Breast Cancer Family Study (ABCFS), New York City (New York Breast CFR), Northern California Breast Cancer Family Registry (NC-BCFR), Ontario Familial Breast
Cancer Registry (OFBCR), and Utah (Utah Breast CFR) work was supported by the United States National Cancer Institute, National Institutes of Health (NIH), under
RFA-CA-06-503 (P30 CA13696 and P30 ES009089), and through cooperative agreements with members of the BCFR and Principal Investigators, including Cancer
Care Ontario (U01 CA69467), Columbia University (U01 CA69398), Cancer Prevention Institute of California (U01 CA69417), Fox Chase Cancer Center (U01
CA69631), Huntsman Cancer Institute (U01 CA69446), and University of Melbourne (U01 CA69638). The ABCFS was also supported by the National Health and
Medical Research Council of Australia, the New South Wales Cancer Council, the Victorian Health Promotion Foundation (Australia), and the Victorian Breast
Cancer Research Consortium. The New York BCFR site was also supported by NIH grants P30 CA13696 and P30 ES009089. MC Southey is a NHMRC Senior
Research Fellow and a Victorian Breast Cancer Research Consortium Group Leader. Baltic Familial Breast Ovarian Cancer Consortium: BFBOCC is partly supported
by: Lithuania (BFBOCC-LT), Research Council of Lithuania grant LIG-19/2010, and Hereditary Cancer Association (Paveldimo ve˙zˇio asociacija). Latvia (BFBOCC-LV) is
partly supported by LSC grant 10.0010.08 and in part by a grant from the ESF Nr.2009/0220/1DP/1.1.1.2.0/09/APIA/VIAA/016. Breast Cancer in Galway Genetic
Study: Guy’s & St. Thomas’ NHS Foundation Trust in partnership with King’s College London, United Kingdom. BRCA-gene mutations and breast cancer in South
African women: BMBSA was supported by grants from the Cancer Association of South Africa (CANSA) to EJ van Rensburg NIH R01CA74415 and P30 CA033752.
Beckman Research Institute of the City of Hope: SL Neuhausen was partially supported by the Morris and Horowitz Families Endowed Professorship. BRICOH was
supported by NIH R01CA74415 and NIH P30 CA033752. Breast Cancer Study of the University Clinic Heidelberg: The BSUCH study was supported by the Dietmar-
Hopp Foundation, the Helmholtz Society and the German Cancer Research Center (DKFZ). Rigshospitalet: The CBCS study was supported by the NEYE Foundation.
CECILE Breast Cancer Study: The CECILE study was funded by Fondation de France, Institut National du Cancer (INCa), Ligue Nationale contre le Cancer, Ligue
contre le Cancer Grand Ouest, Agence Nationale de Se´curite´ Sanitaire (ANSES), Agence Nationale de la Recherche (ANR). Copenhagen General Population Study:
The CGPS was supported by the Chief Physician Johan Boserup and Lise Boserup Fund, the Danish Medical Research Council and Herlev Hospital. Spanish
National Cancer Centre: The CNIO work was partially supported by Spanish Association against Cancer (AECC08), RTICC 06/0020/1060, FISPI08/1120, Mutua
Madrilen˜ a Foundation (FMMA) and SAF2010-20493. Spanish National Cancer Centre Breast Cancer Study: The CNIO-BCS was supported by the Genome Spain
Foundation, the Red Tema´tica de Investigacio´n Cooperativa en Ca´ncer and grants from the Asociacio´n Espan˜ ola Contra el Ca´ncer and the Fondo de Investigacio´n
Sanitario (PI11/00923 and PI081120). City of Hope Cancer Center: The City of Hope Clinical Cancer Genetics Community Research Network is supported by Award
Number RC4A153828 (PI: JN Weitzel) from the National Cancer Institute and the Office of the Director, National Institutes of Health. CONsorzio Studi ITaliani sui
Tumori Ereditari Alla Mammella: CONSIT TEAM was funded by grants from Fondazione Italiana per la Ricerca sul Cancro (Special Project ‘‘Hereditary tumors’’),
Italian Association for Cancer Research (AIRC, IG 8713), Italian Ministry of Health (Extraordinary National Cancer Program 2006, ‘‘Alleanza contro il Cancro’’ and
‘‘Progetto Tumori Femminili), Italian Ministry of Education, University and Research (Prin 2008) Centro di Ascolto Donne Operate al Seno (CAOS) association and
by funds from Italian citizens who allocated the 561000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to
Italian laws (INT-Institutional strategic projects ‘‘561000’’). German Cancer Research Center: The DKFZ study was supported by the DKFZ. Genen Omgeving studie
van de werkgroep Hereditiair Borstkanker Onderzoek Nederland: The DNA HEBON study is supported by the Dutch Cancer Society grants NKI1998-1854, NKI2004-
3088, NKI2007-3756, the NWO grant 91109024, the Pink Ribbon grant 110005, and the BBMRI grant CP46/NWO. Epidemiological study of BRCA1 & BRCA2
mutation carriers: EMBRACE is supported by Cancer Research UK Grants C1287/A10118 and C1287/A11990. DG Evans is supported by an NIHR grant to the
Biomedical Research Centre, Manchester. ESTHER Breast Cancer Study: The ESTHER study was supported by a grant from the Baden Wu¨ rttemberg Ministry of
Science, Research and Arts. Additional cases were recruited in the context of the VERDI study, which was supported by a grant from the German Cancer Aid
(Deutsche Krebshilfe). German Consortium of Hereditary Breast and Ovarian Cancer: GC-HBOC is supported by the German Cancer Aid (grant no 109076), by the
Center for Molecular Medicine Cologne (CMMC), and by Deutsche Krebshilfe (107 352). GC-HBOC is supported by Deutsche Krebshilfe. Genetic Modifiers of cancer
risk in BRCA1/2 mutation carriers: The GEMO study was supported by the Ligue National Contre le Cancer; the Association ‘‘Le cancer du sein, parlons-en!’’ Award
and the Canadian Institutes of Health Research for the ‘‘CIHR Team in Familial Risks of Breast Cancer’’ program. Gene Environment Interaction and Breast Cancer in
Germany: The GENICA was funded by the Federal Ministry of Education and Research (BMBF) Germany grants 01KW9975/5, 01KW9976/8, 01KW9977/0 and
01KW0114, the Robert Bosch Foundation, Stuttgart, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Institute for Prevention and Occupational Medicine
of the German Social Accident Insurance (IPA), Bochum, as well as the Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Cecilia Zvocec,Qun Niu, physicians, genetic counselors, research nurses
and staff of the Cancer Risk Clinic for their contributions to this resource,
and the many families who contribute to our program.
University of California Los Angeles (UCLA): We thank Joyce
Seldon MSGC and Lorna Kwan MPH for assembling the data for this
study.
University of California San Francisco (UCSF): We would like to
thank Ms. Salina Chan for her data management and the following genetic
counselors for participant recruitment: Beth Crawford, Nicola Stewart,
Julie Mak, and Kate Lamvik.
United Kingdom Breakthrough Generations Study (UKBGS):
We thank Breakthrough Breast Cancer and the Institute of Cancer
Research for support of the Breakthrough Generations Study, and the
study participants, study staff, and the doctors, nurses, and other health
care providers and health information sources who have contributed to the
study.
United Kingdom Familial Ovarian Cancer Registries (UKFOCR):
We thank Simon Gayther, Susan Ramus, Carole Pye, Patricia
Harrington, and Eva Wozniak for their contributions towards the
UKFOCR.
Victorian Familial Cancer Trials Group (VFCTG): We acknowledge
Geoffrey Lindeman, Marion Harris, Martin Delatycki of the
Victorian Familial Cancer Trials Group. We thank Sarah Sawyer and
Rebecca Driessen for assembling this data and Ella Thompson for
performing all DNA amplification.
Krankenhaus, Bonn, Germany. Gynecologic Oncology Group: This study was supported by National Cancer Institute grants to the Gynecologic Oncology Group
(GOG) Administrative Office and Tissue Bank (CA 27469), the GOG Statistical and Data Center (CA 37517), and GOG’s Cancer Prevention and Control Committee
(CA 101165). MH Greene and PL Mai are supported by funding from the Intramural Research Program, NCI. Hospital Clinico San Carlos: HCSC was supported by a
grant RD06/0020/0021 from RTICC (ISCIII), Spanish Ministry of Economy and Competitivity. Helsinki Breast Cancer Study: The HEBCS was financially supported by
the Helsinki University Central Hospital Research Fund, Academy of Finland (132473),the Finnish Cancer Society, the Nordic Cancer Union, and the Sigrid Juselius
Foundation. Hannover-Minsk Breast Cancer Study: The HMBCS was supported by a grant from the Friends of Hannover Medical School and by the Rudolf Bartling
Foundation. Study of Genetic Mutations in Breast and Ovarian Cancer patients in Hong Kong and Asia: HRBCP is supported by The Hong Kong Hereditary Breast
Cancer Family Registry and the Dr. Ellen Li Charitable Foundation, Hong Kong. Molecular Genetic Studies of Breast and Ovarian Cancer in Hungary: Hungarian
Breast and Ovarian Cancer Study was supported by Hungarian Research Grant KTIA-OTKA CK-80745 and the Norwegian EEA Financial Mechanism HU0115/
NA/2008-3/O¨ P-9. Institut Catala` d’Oncologia: The ICO study was supported by the Asociacio´n Espan˜ ola Contra el Ca´ncer, Spanish Health Research Foundation,
Ramo´n Areces Foundation, Carlos III Health Institute, Catalan Health Institute, and Autonomous Government of Catalonia and contract grant numbers
ISCIIIRETIC RD06/0020/1051, PI09/02483, PI10/01422, PI10/00748, 2009SGR290, and 2009SGR283. Iceland Landspitali–University Hospital: The ILUH group was
supported by the Icelandic Association ‘‘Walking for Breast Cancer Research’’ and by the Landspitali University Hospital Research Fund. INterdisciplinary
HEalth Research Internal Team BReast CAncer susceptibility: INHERIT work was supported by the Canadian Institutes of Health Research for the ‘‘CIHR Team in
Familial Risks of Breast Cancer’’ program, the Canadian Breast Cancer Research Alliance grant 019511 and the Ministry of Economic Development, Innovation
and Export Trade grant PSR-SIIRI-701. J Simard is Chairholder of the Canada Research Chair in Oncogenetics. Istituto Oncologico Veneto: The IOVHBOCS study
was supported by Ministero dell’Istruzione, dell’Universita` e della Ricerca and Ministero della Salute (‘‘Progetto Tumori Femminili’’ and RFPS 2006-5-341353,
ACC2/R6.9’’). Karolinska Breast Cancer Study: The KARBAC study was supported by the Swedish Cancer Society, the Gustav V Jubilee Foundation, and the Bert
von Kantzow Foundation. Kuopio Breast Cancer Project: The KBCP was financially supported by the special Government Funding (EVO) of Kuopio University Hospital grants, Cancer Fund of North Savo, the Finnish Cancer Organizations, the Academy of Finland, and by the strategic funding of the University of Eastern
Finland. Kathleen Cuningham Consortium for Research into Familial Breast Cancer: kConFab is supported by grants from the National Breast Cancer Foundation
and the National Health and Medical Research Council (NHMRC) and by the Queensland Cancer Fund; the Cancer Councils of New South Wales, Victoria,
Tasmania, and South Australia; and the Cancer Foundation of Western Australia. G Chenevix-Trench and AB Spurdle are NHMRC Senior Research Fellows.
Financial support for the AOCS was provided by the United States Army Medical Research and Materiel Command [DAMD17-01-1-0729], the Cancer Council of
Tasmania and Cancer Foundation of Western Australia, and the NHMRC [199600]. G Chenevix-Trench is supported by the NHMRC. The Clinical Follow Up Study
(funded 2001–2009 by NHMRC and currently by the National Breast Cancer Foundation and Cancer Australia #628333) Korean Hereditary Breast Cancer Study:
KOHBRA is supported by a grant from the National R&D Program for Cancer Control, Ministry for Health, Welfare and Family Affairs, Republic of Korea
(1020350). Leuven Multidisciplinary Breast Centre: LMBC is supported by the ‘Stichting tegen Kanker’ (232-2008 and 196-2010). D Lambrechts is supported by
the FWO and the KULPFV/10/016-SymBioSysII. Mammary Carcinoma Risk Factor Investigation: The MARIE study was supported by the Deutsche Krebshilfe e.V.
[70-2892-BR I], the Hamburg Cancer Society, the German Cancer Research Center, and the genotype work in part by the Federal Ministry of Education and
Research (BMBF) Germany [01KH0402]. Mayo Clinic: MAYO is supported by NIH grant CA128978, an NCI Specialized Program of Research Excellence (SPORE) in
Breast Cancer (CA116201), a U.S. Department of Defence Ovarian Cancer Idea award (W81XWH-10-1-0341), and grants from the Breast Cancer Research
Foundation and the Komen Foundation for the Cure. Milan Breast Cancer Study Group: MBCSG was funded by grants from Fondazione Italiana per la Ricerca
sul Cancro (Special Project ‘‘Hereditary tumors’’), Italian Association for Cancer Research (AIRC, IG 8713), Italian Ministry of Health (‘‘Progetto Tumori Femminili’’),
and by Italian citizens who allocated the 561000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian
laws (INT-Institutional strategic projects ‘‘561000’’). Melbourne Collaborative Cohort Study: MCCS cohort recruitment was funded by VicHealth and Cancer
Council Victoria. The MCCS was further supported by Australian NHMRC grants 209057, 251553 and 504711 and by infrastructure provided by Cancer Council
Victoria. McGill University: The McGill Study was supported by Jewish General Hospital Weekend to End Breast Cancer, Quebec Ministry of Economic
Development, Innovation and Export Trade. Multi-Ethnic Cohort: The MEC was supported by NIH grants CA63464, CA54281, CA098758, and CA132839.
Memorial Sloan-Kettering Cancer Center: The MSKCC was supported by Breast Cancer Research Foundation, Niehaus Clinical Cancer Genetics Initiative, Andrew
Sabin Family Foundation, and Lymphoma Foundation. Montreal Gene-Environment Breast Cancer Study: The work of MTLGEBCS was supported by the Quebec
Breast Cancer Foundation, the Canadian Institutes of Health Research for the ‘‘CIHR Team in Familial Risks of Breast Cancer’’ program grant CRN-87521 and the
Ministry of Economic Development, Innovation and Export Trade grant PSR-SIIRI-701. J Simard is Chairholder of the Canada Research Chair in Oncogenetics.
National Cancer Institute: The research of MH Greene and PL Mai was supported by the Intramural Research Program of the US National Cancer Institute, NIH,
and by support services contracts NO2-CP-11019-50 and N02-CP-65504 with Westat, Rockville, MD. National Israeli Cancer Control Center: NICCC is supported
by Clalit Health Services in Israel. Some of its activities are supported by the Israel Cancer Association and the Breast Cancer Research Foundation (BCRF), New
York. N. N. Petrov Institute of Oncology: The NNPIO study has been supported by the Russian Federation for Basic Research (grants 11-04-00227, 12-04-00928,
and 12-04-01490) and the Federal Agency for Science and Innovations, Russia (contract 02.740.11.0780). Oulu Breast Cancer Study: The OBCS was supported by
research grants from the Finnish Cancer Foundation, the Academy of Finland, the University of Oulu, and the Oulu University Hospital. Leiden University
Medical Centre Breast Cancer Study: The ORIGO study was supported by the Dutch Cancer Society (RUL 1997-1505) and the Biobanking and Biomolecular
Resources Research Infrastructure (BBMRI-NL CP16). The Ohio State University Comprehensive Cancer Center: OSUCCG is supported by the Ohio State
University Comprehensive Cancer Center. SEABASS is supported by the Ministry of Science, Technology and Innovation, Ministry of Higher Education (UM.C/
HlR/MOHE/06) and Cancer Research Initiatives Foundation. The U.S. National Cancer Institute Polish Breast Cancer Study: The PBCS was funded by Intramural
Research Funds of the National Cancer Institute, Department of Health and Human Services, USA. Karolinska Mammography Project for Risk Prediction of Breast
Cancer - prevalent cases: The pKARMA study was supported by Ma¨ rit and Hans Rausings Initiative Against Breast Cancer. Rotterdam Breast Cancer Study: The
RBCS was funded by the Dutch Cancer Society (DDHK 2004-3124, DDHK 2009-4318). Singapore and Sweden Breast Cancer Study: The SASBAC study was
supported by funding from the Agency for Science, Technology and Research of Singapore (A*STAR), the U.S. National Institute of Health (NIH), and the Susan
G. Komen Breast Cancer Foundation. Sheffield Breast Cancer Study: The SBCS was supported by Yorkshire Cancer Research S295, S299, and S305PA. South East
Asian Breast Cancer Association Study: SEABASS is supported by the Ministry of Science, Technology and Innovation, Ministry of Higher Education (UM.C/HlR/
MOHE/06) and Cancer Research Initiatives Foundation. The Malaysian Breast Cancer Genetic Study is funded by research grants from the Malaysian Ministry of
Science, Technology and Innovation; Ministry of Higher Education (UM.C/HIR/MOHE/06); and charitable funding from Cancer Research Initiatives Foundation.
Study of Epidemiology and Risk Factors in Cancer Heredity: SEARCH is funded by programmegrants from Cancer Research UK [C490/A10124][C8197/A10123].
AM Dunning was funded by [C8197/A10865]. Sheba Medical Centre: The SMC study was partially funded through a grant by the Israel Cancer Association and
the funding for the Israeli Inherited Breast Cancer Consortium. Swedish Breast Cancer Study: SWE-BRCA collaborators are supported by the Swedish Cancer
Society. IHCC-Szczecin Breast Cancer Study: The SZBCS was supported by Grant PBZ_KBN_122/P05/2004. The University of Chicago Center for Clinical Cancer
Genetics and Global Health: UCHICAGO is supported by grants from the U.S. National Cancer Institute (NIH/NCI) and by the Ralph and Marion Falk Medical
Research Trust, the Entertainment Industry Fund National Women’s Cancer Research Alliance, and the Breast Cancer Research Foundation. University of
California Los Angeles: The UCLA study was supported by the Jonsson Comprehensive Cancer Center Foundation and the Breast Cancer Research Foundation.
University of California San Francisco: The UCSF study was supported by the UCSF Cancer Risk Program and the Helen Diller Family Comprehensive Cancer
Center. United Kingdom Breakthrough Generations Study: The UKBGS is funded by Breakthrough Breast Cancer and the Institute of Cancer Research (ICR). ICR
acknowledges NHS funding to the NIHR Biomedical Research Centre. United Kingdom Familial Ovarian Cancer Registries: UKFOCR was supported by a project
grant from CRUK to PDP Pharoah. University of Pennsylvania: The UPENN study was supported by the National Institutes of Health (NIH) (R01-CA102776 and
R01-CA083855), Breast Cancer Research Foundation, Rooney Family Foundation, Susan G. Komen Foundation for the Cure, and the Facdonald Family
Foundation. Victorian Familial Cancer Trials Group: The VFCTG study was supported by the Victorian Cancer Agency, Cancer Australia, and National Breast
Cancer Foundation. Women’s Cancer Program: The WCP at the Samuel Oschin Comprehensive Cancer Institute is funded by the American Cancer Society
Early Detection Professorship (SIOP-06-258-01-COUN). Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO) study: The study was
supported by the Ligue National Contre le Cancer, the Association ‘‘Le cancer du sein, parlons-en!’’ Award, and the Canadian Institutes of Health Research
for the ‘‘CIHR Team in Familial Risks of Breast Cancer’’ program. iCOGS: We acknowledge the contributions of Kyriaki Michailidou,
Jonathan Tyrer, and Ali Amin Al Olama to the iCOGS statistical analyses
and Shahana Ahmed, Melanie J. Maranian, and Catherine S. Healey for
their contributions to the iCOGS genotyping quality control process.
Consortium of Modifiers of BRCA1/2 Associations (CIMBA):
The authors would like to acknowledge the contribution of the staff of the
genotyping unit under the supervision of Dr. Sylvie LaBoissie`re as well as
Fre´de´rick Robidoux from the McGill University and Ge´nome Que´bec
Innovation Centre.
Breast Cancer Association Consortium (BCAC): We thank all
the individuals who took part in these studies and all the researchers, clinicians, technicians, and administrative staff who have enabled this work
to be carried out.
Amsterdam Breast Cancer Study (ABCS): We thank Annegien
Broeks, Sten Cornelissen, Richard van Hien, Linde Braaf, Senno Verhoef,
Laura van ’t Veer, Emiel Rutgers, Ellen van der Schoot, and Femke
Atsma.
Bavarian Breast Cancer Cases and Controls (BBCC): We thank
Lothar Haeberle, Sonja Oeser, Silke Landrith, and Reiner Strick.
British Breast Cancer Study (BBCS): We thank Eileen Williams,
Elaine Ryder-Mills, and Kara Sargus.Breast Cancer Family Registry (BCFR) Studies: Samples from
the NC-BCFR were processed and distributed by the Coriell Institute for
Medical Research. We wish to thank members and participants in the
Breast Cancer Family Registry for their contributions to the study. The
ABCFS would like to also thank Maggie Angelakos, Judi Maskiell, and
Gillian Dite. The content of this manuscript does not necessarily reflect the
views or policies of the National Cancer Institute or any of the
collaborating centers in the BCFR, nor does mention of trade names,
commercial products, or organizations imply endorsement by the U.S.
Government or the BCFR.
Baltic Familial Breast Ovarian Cancer Consortium
(BFBOCC): BFBOCC-LT acknowledges Vilius Rudaitis, Laimonas
Grisˇkevicˇius, and Ramuˆnas Janavie`ius. BFBOCC-LV acknowledges
oncologists Janis Eglitis, Anna Krilova, and Aivars Stengrevics.
Breast Cancer in Galway Genetic Study (BIGGS): We thank
Niall McInerney, Gabrielle Colleran, Andrew Rowan, and Angela Jones.
BRCA-gene mutations and breast cancer in South African
women (BMBSA): We wish to thank the families who contribute to the
BMBSA study.
Beckman Research Institute of the City of Hope (BRICOH):
We wish to thank Greg Wilhoite, Yuan Chun Ding, Linda Steele, and
Marie Pinto for their work in participant enrollment and biospecimen and
data management.
Breast Cancer Study of the University Clinic Heidelberg
(BSUCH): We thank Peter Bugert, Medical Faculty Mannheim.
Copenhagen General Population Study (CGPS): We appreciate
the staff and participants of the Copenhagen General Population Study.
For the excellent technical assistance, we thank Dorthe Uldall Andersen,
Maria Birna Arnadottir, Anne Bank, and Dorthe Kjeldga° rd Hansen.
Spanish National Cancer Centre (CNIO): We thank Alicia
Barroso, Rosario Alonso, and Guillermo Pita for their assistance.
Spanish National Cancer Centre Breast Cancer Study (CNIOBCS):
We thank Charo Alonso, Guillermo Pita, Nuria A ´ lvarez, Daniel
Herrero, Primitiva Menendez, Jose´ Ignacio Arias Pe´rez, Pilar Zamora, the
Human Genotyping-CEGEN Unit (CNIO).
CONsorzio Studi ITaliani sui Tumori Ereditari Alla Mammella
(CONSIT TEAM): Bernard Peissel, Daniela Zaffaroni, and Giulia
Melloni of the Fondazione IRCCS Istituto Nazionale Tumori (INT),
Milan; Bernardo Bonanni of Istituto Europeo di Oncologia (IEO), Milan;
Alessandra Viel and Riccardo Dolcetti of the Centro di Riferimento
Oncologico (CRO) IRCCS, Aviano (PN); Liliana Varesco of the IRCCS
AOU San Martino-IST Istituto Nazionale per la Ricerca sul Cancro,
Genoa; Laura Papi of University of Florence, Florence; Laura Ottini and
Giuseppe Giannini of ‘‘La Sapienza’’ University, Rome; Adele Patrini of
the Ospedale di Circolo-Universita` dell’Insubria, Varese; Antonella
Savarese and Aline Martayain of the Istituto Nazionale Tumori Regina
Elena (IRE), Rome; and Stefania Tommasi of the Istituto Nazionale
Tumori ‘‘Giovanni Paolo II’’, Bari, and the personnel of the CGT-lab at
IFOM-IEO Campus, Milan, Italy.
Dana Farber Cancer Institute (DFCI): We thank the study staff
and participants.Genen Omgeving studie van de werkgroep Hereditiair
Borstkanker Onderzoek Nederland (DNA HEBON): DNA HEBON
consists of the following Collaborating Centers: Coordinating center:
Netherlands Cancer Institute, Amsterdam, NL: M.A. Rookus, F.B.L.
Hogervorst, F.E. van Leeuwen, S. Verhoef, M.K. Schmidt, J.L. de Lange;
Erasmus Medical Center, Rotterdam, NL: J.M. Colle´e, A.M.W. van den
Ouweland, M.J. Hooning, C. Seynaeve, C.H.M. van Deurzen; Leiden
University Medical Center, NL: C.J. van Asperen, J.T. Wijnen, R.A.
Tollenaar, P. Devilee, T.C.T.E.F. van Cronenburg; Radboud University
Nijmegen Medical Center, NL: C.M. Kets, A.R. Mensenkamp; University
Medical Center Utrecht, NL: M.G.E.M. Ausems, R.B. van der Luijt;
Amsterdam Medical Center, NL: C.M. Aalfs, T.A.M. van Os; VU University Medical Center, Amsterdam, NL: J.J.P. Gille, Q. Waisfisz,
H.E.J. Meijers-Heijboer; University Hospital Maastricht, NL: E.B. Go´mez-
Garcia, M.J. Blok; University Medical Center Groningen, NL: J.C.
Oosterwijk, A.H. van der Hout, M.J. Mourits, G.H. de Bock. The
Netherlands Foundation for the detection of hereditary tumours, Leiden,
NL: H.F. Vasen.
Epidemiological study of BRCA1 & BRCA2 mutation carriers
(EMBRACE): Douglas F. Easton is the PI of the study. EMBRACE
Collaborating Centres are: Coordinating Centre, Cambridge: Susan
Peock, Debra Frost, Steve Ellis, Elena Fineberg, Radka Platte. North of
Scotland Regional Genetics Service, Aberdeen: Zosia Miedzybrodzka,
Helen Gregory. Northern Ireland Regional Genetics Service, Belfast:
Patrick Morrison, Lisa Jeffers. West Midlands Regional Clinical Genetics
Service, Birmingham: Trevor Cole, Kai-ren Ong, Jonathan Hoffman.
South West Regional Genetics Service, Bristol: Alan Donaldson, Margaret
James. East Anglian Regional Genetics Service, Cambridge: Marc
Tischkowitz, Joan Paterson, Amy Taylor. Medical Genetics Services for
Wales, Cardiff: Alexandra Murray, Mark T. Rogers, Emma McCann. St
James’s Hospital, Dublin & National Centre for Medical Genetics, Dublin:
M. John Kennedy, David Barton. South East of Scotland Regional
Genetics Service, Edinburgh: Mary Porteous, Sarah Drummond. Peninsula
Clinical Genetics Service, Exeter: Carole Brewer, Emma Kivuva,
Anne Searle, Selina Goodman, Kathryn Hill. West of Scotland Regional
Genetics Service, Glasgow: Rosemarie Davidson, Victoria Murday, Nicola
Bradshaw, Lesley Snadden, Mark Longmuir, Catherine Watt, Sarah
Gibson, Eshika Haque, Ed Tobias, Alexis Duncan. South East Thames
Regional Genetics Service, Guy’s Hospital London: Louise Izatt, Chris
Jacobs, Caroline Langman. North West Thames Regional Genetics
Service, Harrow: Angela Brady, Huw Dorkins, Athalie Melville, Kashmir
Randhawa. Leicestershire Clinical Genetics Service, Leicester: Julian
Barwell. Yorkshire Regional Genetics Service, Leeds: Julian Adlard,
Gemma Serra-Feliu. Cheshire & Merseyside Clinical Genetics Service,
Liverpool: Ian Ellis, Catherine Houghton. Manchester Regional Genetics
Service, Manchester: D. Gareth Evans, Fiona Lalloo, Jane Taylor. North
East Thames Regional Genetics Service, NE Thames, London: Lucy Side,
Alison Male, Cheryl Berlin. Nottingham Centre for Medical Genetics,
Nottingham: Jacqueline Eason, Rebecca Collier. Northern Clinical
Genetics Service, Newcastle: Fiona Douglas, Oonagh Claber, Irene
Jobson. Oxford Regional Genetics Service, Oxford: Lisa Walker, Diane
McLeod, Dorothy Halliday, Sarah Durell, Barbara Stayner. The Institute
of Cancer Research and Royal Marsden NHS Foundation Trust: Rosalind
A. Eeles, Susan Shanley, Nazneen Rahman, Richard Houlston, Elizabeth
Bancroft, Elizabeth Page, Audrey Ardern-Jones, Kelly Kohut, Jennifer
Wiggins, Elena Castro, Emma Killick, Sue Martin, Gillian Rea, Anjana
Kulkarni. North Trent Clinical Genetics Service, Sheffield: Jackie Cook,
Oliver Quarrell, Cathryn Bardsley. South West Thames Regional Genetics
Service, London: Shirley Hodgson, Sheila Goff, Glen Brice, Lizzie
Winchester, Charlotte Eddy, Vishakha Tripathi, Virginia Attard, Anna
Lehmann. Wessex Clinical Genetics Service, Princess Anne Hospital,
Southampton: Diana Eccles, Anneke Lucassen, Gillian Crawford, Donna
McBride, Sarah Smalley.
ESTHER Breast Cancer Study (ESTHER): Additional cases were
recruited in the context of the VERDI study. We thank Hartwig Ziegler,
Sonja Wolf, and Volker Hermann.
German Consortium of Hereditary Breast and Ovarian
Cancer (GC-HBOC): We are very thankful to all family members
who participated in this study; Wolfram Heinritz, Center Leipzig, and
Dieter Scha¨ fer, Center Frankfurt, for providing DNA samples; and Juliane
Ko¨hler for excellent technical assistance; as well as Heide Hellebrand,
Stefanie Engert, and GC-HBOC.
Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation
Carriers (GEMO): National Cancer Genetics Network «UNICANCER
Genetic Group», France. We wish to thank all the GEMO collaborating
groups for their contribution to this study. GEMO Collaborating Centers
are: Coordinating Centres, Unite´ Mixte de Ge´ne´tique Constitutionnelle
des Cancers Fre´quents, Hospices Civils de Lyon - Centre Le´on Be´rard, &
Equipe «Ge´ne´tique du cancer du sein», Centre de Recherche en
Cance´rologie de Lyon: Olga Sinilnikova, Sylvie Mazoyer, Francesca
Damiola, Laure Barjhoux, Carole Verny-Pierre, Sophie Giraud, Me´lanie
Le´one; and Service de Ge´ne´tique Oncologique, Institut Curie, Paris:
Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Bruno Buecher,
Claude Houdayer, Virginie Moncoutier, Muriel Belotti, Carole Tirapo,
Antoine de Pauw. Institut Gustave Roussy, Villejuif: Brigitte Bressac-de-Paillerets, Olivier Caron. Centre Jean Perrin, Clermont-Ferrand: Yves-
Jean Bignon, Nancy Uhrhammer. Centre Le´on Be´rard, Lyon: Christine
Lasset, Vale´rie Bonadona, Sandrine Handallou. Centre Franc¸ois Baclesse,
Caen: Agne`s Hardouin, Pascaline Berthet. Institut Paoli Calmettes,
Marseille: Hagay Sobol, Violaine Bourdon, Tetsuro Noguchi, Audrey
Remenieras, Franc¸ois Eisinger. CHU Arnaud-de-Villeneuve, Montpellier:
Isabelle Coupier, Pascal Pujol. Centre Oscar Lambret, Lille: Jean-Philippe
Peyrat, Joe¨lle Fournier, Franc¸oise Re´villion, Philippe Vennin, Claude
Adenis. Hoˆpital Rene´ Huguenin/Institut Curie, St Cloud: Etienne
Rouleau, Rosette Lidereau, Liliane Demange, Catherine Nogues. Centre
Paul Strauss, Strasbourg: Danie`le Muller, Jean-Pierre Fricker. Institut
Bergonie´, Bordeaux: Emmanuelle Barouk-Simonet, Franc¸oise Bonnet,
Virginie Bubien, Nicolas Sevenet, Michel Longy. Institut Claudius
Regaud, Toulouse: Christine Toulas, Rosine Guimbaud, Laurence
Gladieff, Viviane Feillel. CHU Grenoble: Dominique Leroux, He´le`ne
Dreyfus, Christine Rebischung, Magalie Peysselon. CHU Dijon: Fanny
Coron, Laurence Faivre. CHU St-Etienne: Fabienne Prieur, Marine
Lebrun, Caroline Kientz. Hoˆ tel Dieu Centre Hospitalier, Chambe´ry:
Sandra Fert Ferrer. Centre Antoine Lacassagne, Nice: Marc Fre´nay. CHU
Limoges: Laurence Ve´nat-Bouvet. CHU Nantes: Capucine Delnatte.
CHU Bretonneau, Tours: Isabelle Mortemousque. Groupe Hospitalier
Pitie´-Salpe´trie`re, Paris: Florence Coulet, Chrystelle Colas, Florent
Soubrier. CHU Vandoeuvre-les-Nancy : Johanna Sokolowska, Myriam
Bronner. Creighton University, Omaha, USA: Henry T.Lynch, Carrie
L.Snyder.
Gene Environment Interaction and Breast Cancer in Germany
(GENICA): The GENICA network: Dr. Margarete Fischer-Bosch-
Institute of Clinical Pharmacology, Stuttgart, and University of Tu¨bingen,
Germany; [CJ, Hiltrud Brauch], Department of Internal Medicine,
Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn,
Germany [Yon-Dschun Ko, Christian Baisch], Institute of Pathology,
University of Bonn, Bonn, Germany [Hand-Peter Fischer], Molecular
Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ),
Heidelberg, Germany [UH]; and Institute for Prevention and Occupational
Medicine of the German Social Accident Insurance (IPA), Bochum,
Germany [Thomas Bruening, Beate Pesch, Sylvia Rabstein, Anne
Spickenheuer, VH].
Hospital Clinico San Carlos (HCSC): We acknowledge Alicia
Tosar for her technical assistance.
Helsinki Breast Cancer Study (HEBCS): HEBCS would like to
thank Drs. Kristiina Aittoma¨ ki, Carl Blomqvist and Kirsimari Aaltonen,
and Taru A. Muranen and RN Irja Erkkila¨ for their help with the HEBCS
data and samples.
Hannover-Minsk Breast Cancer Study (HMBCS): We thank
Natalia Bogdanova, Natalia Antonenkova, Hans Christiansen, and Peter
Hillemanns.
Study of Genetic Mutations in Breast and Ovarian Cancer
patients in Hong Kong and Asia (HRBCP): We wish to thank Hong
Kong Sanatorium and Hospital for their continual support.
Molecular Genetic Studies of Breast- and Ovarian Cancer in
Hungary (HUNBOCS): We wish to thank the Hungarian Breast and
Ovarian Cancer Study Group members (Janos Papp, Aniko Bozsik, Kristof
Arvai, Judit Franko, Maria Balogh, Gabriella Varga, Judit Ferenczi,
Department of Molecular Genetics, National Institute of Oncology,
Budapest, Hungary), and the clinicians and patients for their contributions
to this study.
University Hospital Vall d’Hebron (HVH): We thank the study
staff and participants.
INterdisciplinary HEalth Research Internal Team BReast
CAncer susceptibility (INHERIT): We would like to thank Dr
Martine Dumont, Martine Tranchant for sample management and skillful
technical assistance.
Kuopio Breast Cancer Project (KBCP): We thank Eija Myo¨ha¨nen
and Helena Kemila¨ inen.
Kathleen Cuningham Consortium for Research into Familial
Breast Cancer (kConFab/AOCS): We thank Heather Thorne,
Eveline Niedermayr, all the kConFab research nurses and staff, the heads
and staff of the Family Cancer Clinics, and the Clinical Follow Up Study
for their contributions to this resource, and the many families who
contribute to kConFab.
Leuven Multidisciplinary Breast Centre (LMBC): We thank
Gilian Peuteman, Dominiek Smeets, Thomas Van Brussel, and Kathleen
Corthouts.
Mammary Carcinoma Risk Factor Investigation (MARIE): We
thank Dieter Flesch-Janys, Rebecca Hein, Stefan Nickels, Muhabbet Celik,
Sabine Behrens, and Ursula Eilber.
Milan Breast Cancer Study Group (MBCSG): We thank Daniela
Zaffaroni of the Fondazione Istituto Nazionale Tumori, Milan, Italy and
the personnel of the CGT laboratory at IFOM-IEO Campus, Milan, Italy.
Montreal Gene-EnvironmentBreastCancer Study (MTLGEBCS):
We thank Martine Tranchant (Cancer Genomics Laboratory, CRCHUQ),
Marie-France Valois, Annie Turgeon, and Lea Heguy (McGill University
Health Center, Royal Victoria Hospital; McGill University) for DNA
extraction, sample management, and skillful technical assistance.
General Hospital Vienna (MUV): We thank the study staff and
participants.
National Israeli Cancer Control Center (NICCC): We wish to
thank the NICCC National Familial Cancer Consultation Service team led
by Sara Dishon, the lab team led by Dr. Flavio Lejbkowicz, and the
research field operations team led by Dr. Mila Pinchev.
Oulu Breast Cancer Study (OBCS): We thank Katri Pylka¨ s, Arja
Jukkola-Vuorinen, Mervi Grip, Saila Kauppila, Meeri Otsukka, and Kari
Mononen.
Ontario Cancer Genetics Network (OCGN): We thank the study
staff and participants.
Leiden University Medical Centre Breast Cancer Study
(ORIGO): We thank E. Krol-Warmerdam, and J. Blom for patient
accrual, administering questionnaires, and managing clinical information.
The LUMC survival data were retrieved from the Leiden hospital-based
cancer registry system (ONCDOC) with the help of Dr. J. Molenaar.
The Ohio State University Comprehensive Cancer Center
(OSUCCG): Kevin Sweet, Caroline Craven, and Michelle O’Conor were
instrumental in accrual of study participants, ascertainment of medical
records and database management. Samples were processed by the OSU
Human Genetics Sample Bank.
Odense University Hospital (OUH): We thank the study staff and
participants.
Universita` di Pisa (PBCS): We thank the study staff and
participants.
The U.S. National Cancer Institute Polish Breast Cancer
Study (PBCS): We thank the study collaborators Drs. Louise Brinton,
Mark Sherman, Stephen Chanock, Neonila Szeszenia-Dabrowska, Beata
Peplonska, and Witold Zatonski, as well as Pei Chao and Michael Stagner,
for their data management support.
Rotterdam Breast Cancer Study (RBCS): We thank Petra Bos,
Jannet Blom, Ellen Crepin, Elisabeth Huijskens, Annette Heemskerk, and
the Erasmus MC Family Cancer Clinic.
Sheffield Breast Cancer Study (SBCS): We thank Sue Higham,
Helen Cramp, and Dan Connley.
South East Asian Breast Cancer Association Study (SEABASS):
We would like to thank Yip Cheng Har, Nur Aishah Mohd Taib, Phuah
Sze Yee, Norhashimah Hassan, and all the research nurses, research
assistants, and doctors involved in the MyBrCa Study for assistance in
patient recruitment, data collection, and sample preparation. In addition,
we thank Philip Iau, Sng Jen-Hwei, and Sharifah Nor Akmal for
contributing samples from the Singapore Breast Cancer Study and the
HUKM-HKL Study respectively.
Study of Epidemiology and Risk Factors in Cancer Heredity
(SEARCH): We thank the SEARCH and EPIC teams.
Sheba Medical Centre (SMC): SMC team wishes to acknowledge
the assistance of the Meirav Comprehensive breast cancer center team at
the Sheba Medical Center for assistance in this study.
Swedish Breast Cancer Study (SWE-BRCA): Swedish scientists
participating as SWE-BRCA collaborators are: from Lund University and
University Hospital: A ° ke Borg, Ha°kan Olsson, Helena Jernstro¨m, Karin
Henriksson, Katja Harbst, Maria Soller, Niklas Loman, Ulf Kristoffersson;
from Gothenburg Sahlgrenska University Hospital: Anna O ¨ fverholm,
Margareta Nordling, Per Karlsson, Zakaria Einbeigi; from Stockholm and
Karolinska University Hospital: Anna von Wachenfeldt, Annelie Liljegren,
Annika Lindblom, Brita Arver, Gisela Barbany Bustinza, Johanna Rantala;
from Umea° University Hospital: Beatrice Melin, Christina Edwinsdotter
Ardnor, Monica Emanuelsson; from Uppsala University: Hans Ehrencrona,
Maritta Hellstro¨m Pigg, Richard Rosenquist; from Linko¨ping
University Hospital: Marie Stenmark-Askmalm, Sigrun Liedgren.
The University of Chicago Center for Clinical Cancer
Genetics and Global Health (UCHICAGO): We wish to thank |
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