Prediction of breast cancer risk based on profiling with common genetic variants

Journal of the National Cancer Institute

Volumn 107, Issue 5, 2015, Pages

  Mavaddat, Nasim ^a   Pharoah, Paul D P ^a   Michailidou, Kyriaki ^a   Tyrer, Jonathan ^a   Brook, Mark N ^a,b   Bolla, Manjeet K ^a   Wang, Qin ^a   Dennis, Joe ^a   Dunning, Alison M ^a   Shah, Mitul ^a   Luben, Robert ^a   Brown, Judith ^a   Bojesen, Stig E ^c,d   Nordestgaard, Børge G ^c,d   Nielsen, Sune F ^c   Flyger, Henrik ^c   Czene, Kamila ^e   Darabi, Hatef ^e   Eriksson, Mikael ^e   Peto, Julian ^f   Dos Santos Silva, Isabel ^f   Dudbridge, Frank ^f   Johnson, Nichola ^b   Schmidt, Marjanka K ^g   Broeks, Annegien ^g   Verhoef, Senno ^g   Rutgers, Emiel J ^g   Swerdlow, Anthony ^b   Ashworth, Alan ^b   Orr, Nick ^b   Schoemaker, Minouk J ^b   Figueroa, Jonine ^h   Chanock, Stephen J ^h   Brinton, Louise ^h   Lissowska, Jolanta ⁱ   Couch, Fergus J ^j   Olson, Janet E ^j   Vachon, Celine ^j   Pankratz, Vernon S ^j   Lambrechts, Diether ^k,l   Wildiers, Hans ^m   Van Ongeval, Chantal ^m   Van Limbergen, Erik ⁿ   Kristensen, Vessela ^m,o,p   Grenaker Alnæs, Grethe ^m   Nord, Silje ^m   Borresen Dale, Anne Lise ^m,o   Nevanlinna, Heli ^p   Muranen, Taru A ^p   Aittomäki, Kristiina ^q   Blomqvist, Carl ^q   Chang Claude, Jenny ^q   Rudolph, Anja ^q   Seibold, Petra ^q   Flesch Janys, Dieter ^r   Fasching, Peter A ^s,t   Haeberle, Lothar ^s   Ekici, Arif B ^u   Beckmann, Matthias W ^s   Burwinkel, Barbara ^t,v   Marme, Frederik ^r,t   Schneeweiss, Andreas ^r,t   Sohn, Christof ^t   Trentham Dietz, Amy ^v   Newcomb, Polly ^v,w   Titus, Linda ^x   Egan, Kathleen M ^y   Hunter, David J ^z,aa   Lindstrom, Sara ^z,aa   Tamimi, Rulla M ^aa   Kraft, Peter ^z,aa   Rahman, Nazneen ^ab   Turnbull, Clare ^ab   Renwick, Anthony ^ab   Seal, Sheila ^j,ab   Li, Jingmei ^b   Liu, Jianjun ^b   Humphreys, Keith ^e   Benitez, Javier ^ac,ad   Pilar Zamora, M ^ae   Arias Perez, Jose Ignacio ^af   Menéndez, Primitiva ^ag   Jakubowska, Anna ^ag   Lubinski, Jan ^ag   Jaworska Bieniek, Katarzyna ^ag   Durda, Katarzyna ^ag   Bogdanova, Natalia V ^ah,ai   Antonenkova, Natalia N ^ai   Dörk, Thilo ^ah   Anton Culver, Hoda ^aj   Neuhausen, Susan L ^ak   Ziogas, Argyrios ^aj   Bernstein, Leslie ^ak   Devilee, Peter ^al   Tollenaar, Robert A E M ^am   Seynaeve, Caroline ^am   Van Asperen, Christi J ^am   Cox, Angela ^a   Cross, Simon S ^an   Reed, Malcolm W R ^am   Khusnutdinova, Elza ^an,ao   Bermisheva, Marina ^ah,an   Prokofyeva, Darya ^ao   Takhirova, Zalina ^an   Meindl, Alfons ^ap   Schmutzler, Rita K ^aq,ar   Sutter, Christian ^as   Yang, Rongxi ^t,v   Schürmann, Peter ^ah   Bremer, Michael ^a   Christiansen, Hans ^ai   Park Simon, Tjoung Won ^ah   Hillemanns, Peter ^ah   Guénel, Pascal ^v,at   Truong, Thérèse ^v,at   Menegaux, Florence ^v,at   Sanchez, Marie ^v,at   Radice, Paolo ^au   Peterlongo, Paolo ^av   Manoukian, Siranoush ^aw   Pensotti, Valeria ^av   Hopper, John L ^ax   Tsimiklis, Helen ^ay   Apicella, Carmel ^ax   Southey, Melissa C ^ay   Brauch, Hiltrud ^r,az,ba   Brüning, Thomas ^bd   Ko, Yon Dschun ^r,bb   Sigurdson, Alice J ^h   Doody, Michele M ^a   Hamann, Ute ^be   Torres, Diana ^bf   Ulmer, Hans Ulrich ^r   Försti, Asta ^bg,bh   Sawyer, Elinor J ^bi   Tomlinson, Ian ^bj   Kerin, Michael J ^bk   Miller, Nicola ^bk   Andrulis, Irene L ^bc,bk,bl   Knight, Julia A ^bl,bm   Glendon, Gord ^bl   Marie Mulligan, Anna ^bn,bo   Chenevix Trench, Georgia ^bp   Balleine, Rosemary ^bq,br   Giles, Graham G ^ax,bs   Milne, Roger L ^ax,bs   McLean, Catriona ^bt   Lindblom, Annika ^e   Margolin, Sara ^e   Haiman, Christopher A ^bu   Henderson, Brian E ^bu   Schumacher, Fredrick ^bu   Le Marchand, Loic ^bv   Eilber, Ursula ^q   Wang Gohrke, Shan ^bw   Hooning, Maartje J ^bx   Hollestelle, Antoinette ^bx   Van Den Ouweland, Ans M W ^by   Koppert, Linetta B ^bx   Carpenter, Jane ^bq   Clarke, Christine ^bq   Scott, Rodney ^bz   Mannermaa, Arto ^ca,cb,cc   Kataja, Vesa ^cc   Kosma, Veli Matti ^ca,cb,cc   Hartikainen, Jaana M ^ca,cb,cc   Brenner, Hermann ^r,cd   Arndt, Volker ^cd   Stegmaier, Christa ^r   Karina Dieffenbach, Aida ^r,cd   Winqvist, Robert ^ce   Pylkäs, Katri ^ce   Jukkola Vuorinen, Arja ^cf   Grip, Mervi ^cg   Offit, Kenneth ^cg,ch   Vijai, Joseph ^cg,ch   Robson, Mark ^cg   Rau Murthy, Rohini ^cg   Dwek, Miriam ^h,ch   Swann, Ruth ^ch   Annie Perkins, Katherine ^ch   Goldberg, Mark S ^ci,cj   Labrèche, France ^ck   Dumont, Martine ^cl   Eccles, Diana M ^cm   Tapper, William J ^cm   Rafiq, Sajjad ^cm   John, Esther M ^cn,co   Whittemore, Alice S ^co   Slager, Susan ^a   Yannoukakos, Drakoulis ^cp   Toland, Amanda E ^cq   Yao, Song ^cr   Zheng, Wei ^cs   Halverson, Sandra L ^cs   González Neira, Anna ^cj   Pita, Guillermo ^ac   Rosario Alonso, M ^ac   Álvarez, Nuria ^ac   Herrero, Daniel ^ac   Tessier, Daniel C ^ct   Vincent, Daniel ^ct   Bacot, Francois ^ct   Luccarini, Craig ^a   Baynes, Caroline ^a   Ahmed, Shahana ^a   Maranian, Mel ^a   Healey, Catherine S ^a   Simard, Jacques ^cl   Hall, Per ^e   Easton, Douglas F ^a   Garcia Closas, Montserrat ^b   more..

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^c GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^d Mental Health Services CPH   (Denmark)

^e KAROLINSKA INSTITUTE   (Sweden)

^f LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^g ANTONI VAN LEEUWENHOEK HOSPITAL   (Netherlands)

^h NATIONAL CANCER INSTITUTE   (United States)

ⁱ INSTITUTE OF ONCOLOGY   (Poland)

^j MAYO CLINIC   (United States)

^k DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^l UNIVERSITY OF LEUVEN   (Belgium)

^m UNIVERSITY HOSPITALS LEUVEN   (Belgium)

ⁿ UNIVERSITY OF LEUVEN   (Belgium)

^o OSLO UNIVERSITY HOSPITAL   (Norway)

^p UNIVERSITY OF OSLO   (Norway)

^q UNIVERSITY OF HELSINKI   (Finland)

^r GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^s UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^t UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^u UNIVERSITY OF CALIFORNIA   (United States)

^v UNIVERSITY OF HEIDELBERG   (Germany)

^w UNIVERSITY OF WISCONSIN   (United States)

^x Fred Hutchinson Cancer Research Center   (United States)

^y DARTMOUTH MEDICAL SCHOOL   (United States)

^z H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^aa HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^ab BRIGHAM AND WOMEN S HOSPITAL   (United States)

^ac GENOME INSTITUTE OF SINGAPORE   (Singapore)

^ad Centro Nacional de Investigaciones Oncológicas   (Spain)

^ae Centro de Investigacin Biomdica en Red de Enfermedades Raras   (Spain)

^af HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^ag HOSPITAL MONTE NARANCO   (Spain)

^ah POMERANIAN MEDICAL UNIVERSITY   (Poland)

^ai HANNOVER MEDICAL SCHOOL   (Germany)

^aj Research Institute of Oncology and Medical Radiology of the Ministry of Health of the Byelorussian SSR   (Belarus)

^ak UNIVERSITY OF CALIFORNIA   (United States)

^al CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^am LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^an UNIVERSITY OF SHEFFIELD   (United Kingdom)

^ao INSTITUTE OF BIOCHEMISTRY AND GENETICS   (Russian Federation)

^ap Birsk Branch of Federal State Budgetary Educational Establishment of Higher Education Bashkir State University   (Russian Federation)

^aq TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^ar UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^as UNIVERSITY OF COLOGNE   (Germany)

^at INSERM   (France)

^au UNIVERSITÉ PARIS SACLAY   (France)

^av NATIONAL CANCER INSTITUTE   (Italy)

^aw FIRC INSTITUTE OF MOLECULAR ONCOLOGY   (Italy)

^ax Fondazione IRCCS Istituto Nazionale Tumori ^*  (Italy)

^ay UNIVERSITY OF MELBOURNE   (Australia)

^az UNIVERSITY OF MELBOURNE   (Australia)

^ba DR MARGARETE FISCHER BOSCH INSTITUTE OF CLINICAL PHARMACOLOGY   (Germany)

^bb UNIVERSITY OF TÜBINGEN   (Germany)

^bc RUHR UNIVERSITY BOCHUM   (Germany)

^bd Johanniter Krankenhaus   (Germany)

^be PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

^bf Baden Baden   (Germany)

^bg LUND UNIVERSITY   (Sweden)

^bh GUY S HOSPITAL   (United Kingdom)

^bi UNIVERSITY OF OXFORD   (United Kingdom)

^bj UNIVERSITY HOSPITAL GALWAY   (Ireland)

^bk MOUNT SINAI HOSPITAL   (Canada)

^bl UNIVERSITY OF TORONTO   (Canada)

^bm UNIVERSITY OF TORONTO   (Canada)

^bn UNIVERSITY HEALTH NETWORK   (Canada)

^bo QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^bp PETER MACCALLUM CANCER CENTRE   (Australia)

^bq UNIVERSITY OF SYDNEY   (Australia)

^br WESTERN SYDNEY LOCAL HEALTH DISTRICT   (Australia)

^bs CANCER EPIDEMIOLOGY CENTRE   (Australia)

^bt ALFRED HOSPITAL   (Australia)

^bu UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^bv UNIVERSITY OF HAWAII CANCER CENTER   (United States)

^bw UNIVERSITY OF ULM   (Germany)

^bx ERASMUS MC CANCER INSTITUTE   (Netherlands)

^by ERASMUS MEDICAL CENTER   (Netherlands)

^bz UNIVERSITY OF NEWCASTLE   (Australia)

^ca Institute of Clinical Medicine   (Finland)

^cb UNIVERSITY OF EASTERN FINLAND   (Finland)

^cc KUOPIO UNIVERSITY HOSPITAL   (Finland)

^cd JYVÄSKYLÄ CENTRAL HOSPITAL   (Finland)

^ce SAARLAND CANCER REGISTRY   (Germany)

^cf UNIVERSITY OF OULU   (Finland)

^cg OULU UNIVERSITY HOSPITAL   (Finland)

^ch MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^ci UNIVERSITY OF WESTMINSTER   (United Kingdom)

^cj MCGILL UNIVERSITY   (Canada)

^ck ROYAL VICTORIA HOSPITAL   (Canada)

^cl UNIVERSITÉ DE MONTRÉAL   (Canada)

^cm LAVAL UNIVERSITY   (Canada)

^cn UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^co CANCER PREVENTION INSTITUTE OF CALIFORNIA   (United States)

^cp STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^cq INSTITUTE OF NANOSCIENCE AND NANOTECHNOLOGY   (Greece)

^cr OHIO STATE UNIVERSITY   (United States)

^cs ROSWELL PARK CANCER INSTITUTE   (United States)

^ct VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ESTROGEN RECEPTOR; TUMOR MARKER;

ADULT; AGE; ARTICLE; BREAST CANCER; CANCER DIAGNOSIS; CANCER INCIDENCE; CANCER MORTALITY; CANCER RISK; CASE CONTROL STUDY; CONTROLLED STUDY; EUROPEAN; FAMILY HISTORY; FEMALE; FIRST DEGREE RELATIVE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MIDDLE AGED; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; BREAST NEOPLASMS; CHEMISTRY; EUROPE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; PREDICTIVE VALUE; RISK; RISK ASSESSMENT; RISK FACTOR;

ADULT; AGED; BREAST NEOPLASMS; EUROPE; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MIDDLE AGED; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDICTIVE VALUE OF TESTS; RECEPTORS, ESTROGEN; RISK ASSESSMENT; RISK FACTORS; TUMOR MARKERS, BIOLOGICAL;

EID: 84928761946     PISSN: 00278874     EISSN: 14602105     Source Type: Journal    
DOI: 10.1093/jnci/djv036     Document Type: Article

References (31)

1. Ferlay J, Soerjomataram I, Ervik M, et al. GLOBOCAN 2012 v1. 0, Cancer Incidence and Mortality Worldwide: IARC CancerBase No. 11. Lyon, France, International Agency for Research on Cancer. http://globocan. iarc. fr/. Accessed February 3, 2014.
2. Bleyer A, Welch HG. Effect of three decades of screening mammography on breast-cancer incidence. N Engl J Med. 2012;367(21):1998-2005.
3. Independent UK Panel on Breast Cancer Screening. The benefits and harms of breast cancer screening: An independent review. Lancet. 2012;380(9855):1778-1786.
4. Cuzick J, Sestak I, Bonanni B, et al. Selective oestrogen receptor modulators in prevention of breast cancer: An updated meta-analysis of individual participant data. Lancet. 2013;381(9880):1827-1834.
5. Howell A, Astley S, Warwick J, et al. Prevention of breast cancer in the context of a national breast screening programme. J Intern Med. 2012;271(4):321-330.
6. Pashayan N, Duffy SW, Chowdhury S, et al. Polygenic susceptibility to prostate and breast cancer: implications for personalised screening. Br J Cancer. 2011;104(10):1656-1663.
7. Hall P, Easton D. Breast cancer screening: time to target women at risk. Br J Cancer. 2013;108(11):2202-2204.
8. Burton H, Chowdhury S, Dent T, Hall A, Pashayan N, Pharoah P. Public health implications from COGS and potential for risk stratification and screening. Nat Genet. 2013;45(4):349-351.
9. Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet. 2001;358(9291):1389-1399.
10. Thompson D, Easton D. The genetic epidemiology of breast cancer genes. J Mammary Gland Biol Neoplasia. 2004;9(3):221-236.
11. Easton DF, Pooley KA, Dunning AM, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature. 2007;447(7148):1087-1093.
12. Broeks A, Schmidt MK, Sherman ME, et al. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet. 2011;20(16):3289-3303.
13. Mavaddat N, Antoniou AC, Easton DF, Garcia-Closas M. Genetic susceptibility to breast cancer. Mol Oncol. 2010;4(3):174-191.
14. Garcia-Closas M, Couch FJ, Lindstrom S, et al. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet. 2013;45(4):392-398.
15. Michailidou K, Hall P, Gonzalez-Neira A, et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet. 2013;45(4):353-361.
16. French JD, Ghoussaini M, Edwards SL, et al. Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through longrange enhancers. Am J Hum Genet. 2013;92(4):489-503.
17. Bojesen SE, Pooley KA, Johnatty SE, et al. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet. 2013;45(4):371-384.
18. Pharoah PD, Antoniou AC, Easton DF, Ponder BA. Polygenes, risk prediction, and targeted prevention of breast cancer. N Engl J Med. 2008;358(26):2796-2803.
19. Milne RL, Herranz J, Michailidou K, et al. A Large-Scale Assessment of Two-Way SNP Interactions in Breast Cancer Susceptibility Using 46,450 Cases and 42,461 Controls from the Breast Cancer Association Consortium. Hum Mol Genet. 2014;23(7):1934-1946.
20. Reeves GK, Travis RC, Green J, et al. Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci. JAMA. 2010;304(4):426-434.
21. National Institure for Clinical Excellence (NICE). Familial breast cancer: Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer (CG164). London: NICE, 2013. http://guidance. nice. org. uk/CG164. Accessed Feb 3, 2014.
22. So HC, Kwan JS, Cherny SS, Sham PC. Risk prediction of complex diseases from family history and known susceptibility loci, with applications for cancer screening. Am J Hum Genet. 2011;88(5):548-565.
23. Macinnis RJ, Antoniou AC, Eeles RA, et al. A risk prediction algorithm based on family history and common genetic variants: Application to prostate cancer with potential clinical impact. Genet Epidemiol. 2011;35(6):549-556.
24. Husing A, Canzian F, Beckmann L, et al. Prediction of breast cancer risk by genetic risk factors, overall and by hormone receptor status. J Med Genet. 2012;49(9):601-608.
25. Darabi H, Czene K, Zhao W, Liu J, Hall P, Humphreys K. Breast cancer risk prediction and individualised screening based on common genetic variation and breast density measurement. Breast Cancer Res. 2012;14(1):R25.
26. Nickels S, Truong T, Hein R, et al. Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors. PLoS Genet. 2013;9(3):e1003284.
27. Travis RC, Reeves GK, Green J, et al. Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. Lancet. 2010;375(9732):2143-2151.
28. Garcia-Closas M, Gunsoy NB, Chatterjee N. Combined associations of genetic and environmental risk factors: implications for prevention of breast cancer. JNCI J Natl Cancer Inst. 2014;106(11): dju305 doi:10. 1093/jnci/dju305.
29. Wacholder S, Hartge P, Prentice R, et al. Performance of common genetic variants in breast-cancer risk models. N Engl J Med. 2010;362(11):986-993.
30. Mealiffe ME, Stokowski RP, Rhees BK, Prentice RL, Pettinger M, Hinds DA. Assessment of clinical validity of a breast cancer risk model combining genetic and clinical information. J Natl Cancer Inst. 2010;102(21):1618-1627.
31. Sawyer S, Mitchell G, McKinley J, et al. A role for common genomic variants in the assessment of familial breast cancer. J Clin Oncol. 2012;30(35):4330-4336.