Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

Human Mutation

Volumn 33, Issue 4, 2012, Pages 690-702

  Ramus, Susan J ^a   Antoniou, Antonis C ^b   Kuchenbaecker, Karoline B ^b   Soucy, Penny ^c   Beesley, Jonathan ^d   Chen, Xiaoqing ^d   McGuffog, Lesley ^b   Sinilnikova, Olga M ^e,f   Healey, Sue ^d   Barrowdale, Daniel ^b   Lee, Andrew ^b   Thomassen, Mads ^g   Gerdes, Anne Marie ^h   Kruse, Torben A ^g   Jensen, Uffe Birk ⁱ   Skytte, Anne Bine ^j   Caligo, Maria A ^k   Liljegren, Annelie ^l   Lindblom, Annika ^l   Olsson, Håkan ^m   Kristoffersson, Ulf ^m   Stenmark Askmalm, Marie ⁿ   Melin, Beatrice ^o   Domchek, Susan M ^q   Nathanson, Katherine L ^q   Rebbeck, Timothy R ^q   Jakubowska, Anna ^r   Lubinski, Jan ^r   Jaworska, Katarzyna ^r,s   Durda, Katarzyna ^r   Złowocka, Elżbieta ^r   Gronwald, Jacek ^r   Huzarski, Tomasz ^r   Byrski, Tomasz ^r   Cybulski, Cezary ^r   Toloczko Grabarek, Aleksandra ^r   Osorio, Ana ^t   Benitez, Javier ^t   Duran, Mercedes ^u   Tejada, Maria Isabel ^v   Hamann, Ute ^w   Rookus, Matti ^x   van Leeuwen, Flora E ^x   Aalfs, Cora M ^y   Meijers Heijboer, Hanne E J ^z   van Asperen, Christi J ^aa   van Roozendaal, K E P ^ab   Hoogerbrugge, Nicoline ^ac   Collée, J Margriet ^ad   Kriege, Mieke ^ad   van der Luijt, Rob B ^ae   Peock, Susan ^b   Frost, Debra ^b   Ellis, Steve D ^b   Platte, Radka ^b   Fineberg, Elena ^b   Evans, D Gareth ^ag   Lalloo, Fiona ^ag   Jacobs, Chris ^ah   Eeles, Ros ^ai   Adlard, Julian ^aj   Davidson, Rosemarie ^ak   Eccles, Diana ^al   Cole, Trevor ^am   Cook, Jackie ^an   Paterson, Joan ^ao   Douglas, Fiona ^ap   Brewer, Carole ^aq   Hodgson, Shirley ^ar   Morrison, Patrick J ^as   Walker, Lisa ^at   Porteous, Mary E ^au   Kennedy, M John ^av   Pathak, Harsh ^aw   Godwin, Andrew K ^aw   Stoppa Lyonnet, Dominique ^ax,ay,az   Caux Moncoutier, Virginie ^ax   de Pauw, Antoine ^ax   Gauthier Villars, Marion ^ax   Mazoyer, Sylvie ^f   Léoné, Mélanie ^e   Calender, Alain ^e   Lasset, Christine ^ba,bb   Bonadona, Valérie ^ba,bb   Hardouin, Agnès ^bc   Berthet, Pascaline ^bc   Bignon, Yves Jean ^bd   Uhrhammer, Nancy ^bd   Faivre, Laurence ^be,bf   Loustalot, Catherine ^bf   Buys, Saundra ^bh   Daly, Mary ^bi   Miron, Alex ^bj   Terry, Mary Beth ^bk   Chung, Wendy K ^bk   John, Esther M ^bl   Southey, Melissa ^bm   Goldgar, David ^bh   Singer, Christian F ^bn   Tea, Muy Kheng ^bn   Pfeiler, Georg ^bn   Fink Retter, Anneliese ^bn   Hansen, Thomas V O ^bo   Ejlertsen, Bent ^bo   Johannsson, Oskar Th ^bp   Offit, Kenneth ^bq   Kirchhoff, Tomas ^br   Gaudet, Mia M ^bs   Vijai, Joseph ^bq   Robson, Mark ^bq   Piedmonte, Marion ^bt   Phillips, Kelly Anne ^bu   Van Le, Linda ^bv   Hoffman, James S ^bw   Toland, Amanda Ewart ^bx   Montagna, Marco ^by   Tognazzo, Silvia ^by   Imyanitov, Evgeny ^bz   Isaacs, Claudine ^ca   Janavicius, Ramunas ^cb   Lazaro, Conxi ^cc   Blanco, Ignacio ^cc   Tornero, Eva ^cc   Navarro, Matilde ^cc   Moysich, Kirsten B ^bt   Karlan, Beth Y ^cd   Gross, Jenny ^cd   Olah, Edith ^ce   Vaszko, Tibor ^ce   Teo, Soo Hwang ^cf   Ganz, Patricia A ^cg   Beattie, Mary S ^ch   Dorfling, Cecelia M ^ci   van Rensburg, Elizabeth J ^ci   Diez, Orland ^cj   Kwong, Ava ^ck   Schmutzler, Rita K ^cl   Wappenschmidt, Barbara ^cl   Engel, Christoph ^cm   Meindl, Alfons ^cn   Ditsch, Nina ^co   Arnold, Norbert ^cp   Heidemann, Simone ^cp   Niederacher, Dieter ^cq   Preisler Adams, Sabine ^cr   Gadzicki, Dorotehea ^cs   Varon Mateeva, Raymonda ^ct   Deissler, Helmut ^cu   Gehrig, Andrea ^cv   Sutter, Christian ^cw   Kast, Karin ^cx   Fiebig, Britta ^cy   Schäfer, Dieter ^cz   Caldes, Trinidad ^da   de la Hoya, Miguel ^da   Nevanlinna, Heli ^db   Aittomäki, Kristiina ^db   Plante, Marie ^c   Spurdle, Amanda B ^d   Neuhausen, Susan L ^dc   Ding, Yuan Chun ^dc   Wang, Xianshu ^dd   Lindor, Noralane ^dd   Fredericksen, Zachary ^dd   Pankratz, V Shane ^dd   Peterlongo, Paolo ^de,df   Manoukian, Siranoush ^de   Peissel, Bernard ^de   Zaffaroni, Daniela ^de   Bonanni, Bernardo ^dg   Bernard, Loris ^dg,dh   Dolcetti, Riccardo ^di   Papi, Laura ^dj   Ottini, Laura ^dk   Radice, Paolo ^de,df   Greene, Mark H ^dl   Mai, Phuong L ^dl   Andrulis, Irene L ^dm   Glendon, Gord ^dn   Ozcelik, Hilmi ^dm   Pharoah, Paul D P ^b   Gayther, Simon A ^a   Simard, Jacques ^c   Easton, Douglas F ^b   Couch, Fergus J ^dd   Chenevix Trench, Georgia ^d   more..

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c LAVAL UNIVERSITY   (Canada)

^d QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^e HOSPICES CIVILS DE LYON   (France)

^f CENTRE DE RECHERCHE EN CANCÉROLOGIE DE LYON   (France)

^g ODENSE UNIVERSITY HOSPITAL   (Denmark)

^h UNIVERSITY OF COPENHAGEN   (Denmark)

ⁱ AARHUS UNIVERSITY HOSPITAL   (Denmark)

^j LILLEBAELT HOSPITAL   (Denmark)

^k UNIVERSITY OF PISA   (Italy)

^l KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^m LUND UNIVERSITY HOSPITAL   (Sweden)

ⁿ LINKÖPING UNIVERSITY   (Sweden)

^o UMEÅ UNIVERSITY   (Sweden)

^p Stockholm Breast Cancer Study Group   (Sweden)

^q UNIVERSITY OF PENNSYLVANIA   (United States)

^r POMERANIAN MEDICAL UNIVERSITY   (Poland)

^s MEDICAL UNIVERSITY OF WARSAW   (Poland)

^t CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^u UNIVERSITY OF VALLADOLID   (Spain)

^v HOSPITAL DE CRUCES   (Spain)

^w GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^x NETHERLANDS CANCER INSTITUTE   (Netherlands)

^y ACADEMIC MEDICAL CENTER   (Netherlands)

^z VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^aa LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^ab MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^ac RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^ad ERASMUS MEDICAL CENTER   (Netherlands)

^ae UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^af Hereditary Breast Ovarian Cancer Group   (Netherlands)

^ag UNIVERSITY OF MANCHESTER   (United Kingdom)

^ah GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^ai INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^aj Yorkshire Regional Genetics Service   (United Kingdom)

^ak ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^al UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^am BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^an SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^ao ADDENBROOKE S HOSPITAL   (United Kingdom)

^ap NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^aq ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^ar ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^as QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^at CHURCHILL HOSPITAL   (United Kingdom)

^au WESTERN GENERAL HOSPITAL   (United Kingdom)

^av ST JAMES S HOSPITAL   (Ireland)

^aw UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

^ax INSTITUT CURIE   (France)

^ay INSTITUT CURIE   (France)

^az UNIVERSITÉ PARIS DESCARTES   (France)

^ba UNIVERSITÉ LYON 1   (France)

^bb CENTRE LÉON BÉRARD   (France)

^bc CENTRE FRANÇOIS BACLESSE   (France)

^bd CENTRE JEAN PERRIN   (France)

^be UNIVERSITÉ DE BOURGOGNE   (France)

^bf CENTRE GEORGES FRANÇOIS LECLERC   (France)

^bg FNCLCC   (France)

^bh UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^bi FOX CHASE CANCER CENTER   (United States)

^bj DANA FARBER CANCER INSTITUTE   (United States)

^bk Och Spine at New York Presbyterian Hospitals   (United States)

^bl CANCER PREVENTION INSTITUTE OF CALIFORNIA   (United States)

^bm UNIVERSITY OF MELBOURNE   (Australia)

^bn MEDICAL UNIVERSITY OF VIENNA   (Austria)

^bo University of Copenhagen   (Denmark)

^bp LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^bq MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^br NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^bs AMERICAN CANCER SOCIETY   (United States)

^bt ROSWELL PARK CANCER INSTITUTE   (United States)

^bu PETER MACCALLUM CANCER CENTRE   (Australia)

^bv UNIVERSITY OF NORTH CAROLINA   (United States)

^bw The Hospital of Central Conneticut   (United States)

^bx OHIO STATE UNIVERSITY   (United States)

^by VENETO INSTITUTE OF ONCOLOGY IOV IRCCS   (Italy)

^bz N N PETROV RESEARCH INSTITUTE OF ONCOLOGY   (Russian Federation)

^ca GEORGETOWN UNIVERSITY   (United States)

^cb VILNIUS UNIVERSITY   (Lithuania)

^cc Hereditari Cancer Program   (Spain)

^cd CEDARS SINAI MEDICAL CENTER   (United States)

^ce NATIONAL INSTITUTE OF ONCOLOGY   (Hungary)

^cf UNIVERSITY OF MALAYA   (Malaysia)

^cg UNIVERSITY OF CALIFORNIA   (United States)

^ch UNIVERSITY OF CALIFORNIA   (United States)

^ci UNIVERSITY OF PRETORIA   (South Africa)

^cj HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^ck UNIVERSITY OF HONG KONG   (Hong Kong)

^cl UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^cm UNIVERSITY OF LEIPZIG   (Germany)

^cn TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^co UNIVERSITY OF MUNICH   (Germany)

^cp UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^cq UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^cr UNIVERSITY OF MÜNSTER   (Germany)

^cs HANNOVER MEDICAL SCHOOL   (Germany)

^ct CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^cu UNIVERSITY HOSPITAL ULM   (Germany)

^cv UNIVERSITY OF WÜRZBURG   (Germany)

^cw UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^cx UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^cy UNIVERSITY OF REGENSBURG   (Germany)

^cz UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^da HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^db HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

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

^dd MAYO CLINIC   (United States)

^de NATIONAL CANCER INSTITUTE   (Italy)

^df FIRC INSTITUTE OF MOLECULAR ONCOLOGY   (Italy)

^dg EUROPEAN INSTITUTE OF ONCOLOGY   (Italy)

^dh Mayo Clinic ^*  (Italy)

^di CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^dj UNIVERSITY OF FLORENCE   (Italy)

^dk SAPIENZA UNIVERSITY OF ROME   (Italy)

^dl NATIONAL CANCER INSTITUTE   (United States)

^dm MOUNT SINAI HOSPITAL   (Canada)

^dn CANCER CARE ONTARIO   (Canada)

more..

Author keywords

Association; BRCA1; BRCA2; Ovarian cancer; SNP

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; ALLELE; ARTICLE; CANCER RISK; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; OVARY CANCER; POPULATION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84862792587     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22025     Document Type: Article

References (46)

1. Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R, Morrison J, Maranian M, Pooley KA, Luben R, Eccles D, Evans DG, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Stratton MR, Rahman N, Jacobs K, Prentice R, Anderson GL, Rajkovic A, Curb JD, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Diver WR, Bojesen S, Nordestgaard BG, Flyger H, Dörk T, Schürmann P, Hillemanns P, Karstens JH, Bogdanova NV, Antonenkova NN, Zalutsky IV, Bermisheva M, Fedorova S, Khusnutdinova E; SEARCH, Kang D, Yoo KY, Noh DY, Ahn SH, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Garcia-Closas M, Lissowska J, Brinton L, Peplonska B, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Hopper JL, Southey MC, Smith L, Spurdle AB, Schmidt MK, Broeks A, van Hien RR, Cornelissen S, Milne RL, Ribas G, González-Neira A, Benitez J, Schmutzler RK, Burwinkel B, Bartram CR, Meindl A, Brauch H, Justenhoven C, Hamann U; GENICA Consortium, Chang-Claude J, Hein R, Wang-Gohrke S, Lindblom A, Margolin S, Mannermaa A, Kosma VM, Kataja V, Olson JE, Wang X, Fredericksen Z, Giles GG, Severi G, Baglietto L, English DR, Hankinson SE, Cox DG, Kraft P, Vatten LJ, Hveem K, Kumle M, Sigurdson A, Doody M, Bhatti P, Alexander BH, Hooning MJ, van den Ouweland AM, Oldenburg RA, Schutte M, Hall P, Czene K, Liu J, Li Y, Cox A, Elliott G, Brock I, Reed MW, Shen CY, Yu JC, Hsu GC, Chen ST, Anton-Culver H, Ziogas A, Andrulis IL, Knight JA; kConFab; Australian Ovarian Cancer Study Group, Beesley J, Goode EL, Couch F, Chenevix-Trench G, Hoover RN, Ponder BA, Hunter DJ, Pharoah PD, Dunning AM, Chanock SJ, Easton DF. 2009. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet 41:585-590.
2. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjäkoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF. 2003. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:1117-1130.
3. Antoniou AC, Beesley J, McGuffog L, Sinilnikova OM, Healey S, Neuhausen SL, Ding YC, Rebbeck TR, Weitzel JN, Lynch HT, Isaacs C, Ganz PA, Tomlinson G, Olopade OI, Couch FJ, Wang X, Lindor NM, Pankratz VS, Radice P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Viel A, Allavena A, Dall'Olio V, Peterlongo P, Szabo CI, Zikan M, Claes K, Poppe B, Foretova L, Mai PL, Greene MH, Rennert G, Lejbkowicz F, Glendon G, Ozcelik H, Andrulis IL; Ontario Cancer Genetics Network, Thomassen M, Gerdes AM, Sunde L, Cruger D, Birk Jensen U, Caligo M, Friedman E, Kaufman B, Laitman Y, Milgrom R, Dubrovsky M, Cohen S, Borg A, Jernström H, Lindblom A, Rantala J, Stenmark-Askmalm M, Melin B; SWE-BRCA, Nathanson K, Domchek S, Jakubowska A, Lubinski J, Huzarski T, Osorio A, Lasa A, Durán M, Tejada MI, Godino J, Benitez J, Hamann U, Kriege M, Hoogerbrugge N, van der Luijt RB, van Asperen CJ, Devilee P, Meijers-Heijboer EJ, Blok MJ, Aalfs CM, Hogervorst F, Rookus M; HEBON, Cook M, Oliver C, Frost D, Conroy D, Evans DG, Lalloo F, Pichert G, Davidson R, Cole T, Cook J, Paterson J, Hodgson S, Morrison PJ, Porteous ME, Walker L, Kennedy MJ, Dorkins H, Peock S; EMBRACE, Godwin AK, Stoppa-Lyonnet D, de Pauw A, Mazoyer S, Bonadona V, Lasset C, Dreyfus H, Leroux D, Hardouin A, Berthet P, Faivre L; GEMO, Loustalot C, Noguchi T, Sobol H, Rouleau E, Nogues C, Frénay M, Vénat-Bouvet L; GEMO, Hopper JL, Daly MB, Terry MB, John EM, Buys SS, Yassin Y, Miron A, Goldgar D; Breast Cancer Family Registry, Singer CF, Dressler AC, Gschwantler-Kaulich D, Pfeiler G, Hansen TV, Jønson L, Agnarsson BA, Kirchhoff T, Offit K, Devlin V, Dutra-Clarke A, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Schwartz PE, Blank SV, Toland AE, Montagna M, Casella C, Imyanitov E, Tihomirova L, Blanco I, Lazaro C, Ramus SJ, Sucheston L, Karlan BY, Gross J, Schmutzler R, Wappenschmidt B, Engel C, Meindl A, Lochmann M, Arnold N, Heidemann S, Varon-Mateeva R, Niederacher D, Sutter C, Deissler H, Gadzicki D, Preisler-Adams S, Kast K, Schönbuchner I, Caldes T, de la Hoya M, Aittomäki K, Nevanlinna H, Simard J, Spurdle AB, Holland H, Chen X; kConFab, Platte R, Chenevix-Trench G, Easton DF; CIMBA. 2010b. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res 70:9742-9754.
4. Antoniou AC, Cunningham AP, Peto J, Evans DG, Lalloo F, Narod SA, Risch HA, Eyfjord JE, Hopper JL, Southey MC, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tryggvadottir L, Syrjakoski K, Kallioniemi OP, Eerola H, Nevanlinna H, Pharoah PD, Easton DF. 2008b. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Brit J Cancer 98:1457-1466.
5. Antoniou AC, Kartsonaki C, Sinilnikova OM, Soucy P, McGuffog L, Healey S, Lee A, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Barile M, Pensotti V, Pasini B, Dolcetti R, Giannini G, Laura Putignano A, Varesco L, Radice P, Mai PL, Greene MH, Andrulis IL, Glendon G, Ozcelik H, Thomassen M, Gerdes AM, Kruse TA, Birk Jensen U, Crüger DG, Caligo MA, Laitman Y, Milgrom R, Kaufman B, Paluch-Shimon S, Friedman E, Loman N, Harbst K, Lindblom A, Arver B, Ehrencrona H, Melin B; SWE-BRCA, Nathanson KL, Domchek SM, Rebbeck T, Jakubowska A, Lubinski J, Gronwald J, Huzarski T, Byrski T, Cybulski C, Gorski B, Osorio A, Ramón Y Cajal T, Fostira F, Andrés R, Benitez J, Hamann U, Hogervorst FB, Rookus MA, Hooning MJ, Nelen MR, van der Luijt RB, van Os TA, van Asperen CJ, Devilee P, Meijers-Heijboer HE, Gómez Garcia EB; HEBON, Peock S, Cook M, Frost D, Platte R, Leyland J, Gareth Evans D, Lalloo F, Eeles R, Izatt L, Adlard J, Davidson R, Eccles D, Ong KR, Cook J, Douglas F, Paterson J, John Kennedy M, Miedzybrodzka Z; EMBRACE, Godwin A, Stoppa-Lyonnet D, Buecher B, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Lasset C, Leroux D, Faivre L, Bronner M, Prieur F, Nogues C, Rouleau E, Pujol P, Coupier I, Frénay M; CEMO Study Collaborators, Hopper JL, Daly MB, Terry MB, John EM, Buys SS, Yassin Y, Miron A, Goldgar D; Breast Cancer Family Registry, Singer CF, Tea MK, Pfeiler G, Catharina Dressler A, Hansen TV, Jønson L, Ejlertsen B, Bjork Barkardottir R, Kirchhoff T, Offit K, Piedmonte M, Rodriguez G, Small L, Boggess J, Blank S, Basil J, Azodi M, Ewart Toland A, Montagna M, Tognazzo S, Agata S, Imyanitov E, Janavicius R, Lazaro C, Blanco I, Pharoah PD, Sucheston L, Karlan BY, Walsh CS, Olah E, Bozsik A, Teo SH, Seldon JL, Beattie MS, van Rensburg EJ, Sluiter MD, Diez O, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ruehl I, Varon-Mateeva R, Kast K, Deissler H, Niederacher D, Arnold N, Gadzicki D, Schönbuchner I, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Dumont M, Chiquette J, Tischkowitz M, Chen X, Beesley J, Spurdle AB; kConFab investigators, Neuhausen SL, Chun Ding Y, Fredericksen Z, Wang X, Pankratz VS, Couch F, Simard J, Easton DF, Chenevix-Trench G; on behalf of CIMBA. 2011. Common alleles at 6q25. 1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet 20:3304-3321. Advanced access published on 18 May 2011.
6. Antoniou AC, Sinilnikova OM, McGuffog L, Healey S, Nevanlinna H, Heikkinen T, Simard J, Spurdle AB, Beesley J, Chen X; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Neuhausen SL, Ding YC, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Peissel B, Bonanni B, Viel A, Bernard L, Radice P, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai PL, Rennert G, Lejbkowicz F, Andrulis IL, Ozcelik H, Glendon G; OCGN, Gerdes AM, Thomassen M, Sunde L, Caligo MA, Laitman Y, Kontorovich T, Cohen S, Kaufman B, Dagan E, Baruch RG, Friedman E, Harbst K, Barbany-Bustinza G, Rantala J, Ehrencrona H, Karlsson P, Domchek SM, Nathanson KL, Osorio A, Blanco I, Lasa A, Benítez J, Hamann U, Hogervorst FB, Rookus MA, Collee JM, Devilee P, Ligtenberg MJ, van der Luijt RB, Aalfs CM, Waisfisz Q, Wijnen J, van Roozendaal CE; HEBON, Peock S, Cook M, Frost D, Oliver C, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C, Eccles D, Cole T, Hodgson S; EMBRACE, Godwin AK, Stoppa-Lyonnet D, Buecher B, Léoné M, Bressac-de Paillerets B, Remenieras A, Caron O, Lenoir GM, Sevenet N, Longy M, Ferrer SF, Prieur F; GEMO, Goldgar D, Miron A, John EM, Buys SS, Daly MB, Hopper JL, Terry MB, Yassin Y; Breast Cancer Family Registry, Singer C, Gschwantler-Kaulich D, Staudigl C, Hansen TO, Barkardottir RB, Kirchhoff T, Pal P, Kosarin K, Offit K, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Schwartz PE, Blank SV, Toland AE, Montagna M, Casella C, Imyanitov EN, Allavena A, Schmutzler RK, Versmold B, Engel C, Meindl A, Ditsch N, Arnold N, Niederacher D, Deissler H, Fiebig B, Suttner C, Schönbuchner I, Gadzicki D, Caldes T, de la Hoya M, Pooley KA, Easton DF, Chenevix-Trench G; CIMBA. 2009. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet 18:4442-4456.
7. Antoniou AC, Sinilnikova OM, Simard J, Léoné M, Dumont M, Neuhausen SL, Struewing JP, Stoppa-Lyonnet D, Barjhoux L, Hughes DJ, Coupier I, Belotti M, Lasset C, Bonadona V, Bignon YJ; Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers Study (GEMO), Rebbeck TR, Wagner T, Lynch HT, Domchek SM, Nathanson KL, Garber JE, Weitzel J, Narod SA, Tomlinson G, Olopade OI, Godwin A, Isaacs C, Jakubowska A, Lubinski J, Gronwald J, Górski B, Byrski T, Huzarski T, Peock S, Cook M, Baynes C, Murray A, Rogers M, Daly PA, Dorkins H; Epidemiological Study of BRCA1 and BRCA2 Mutation Carriers (EMBRACE), Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Niederacher D, Deissler H; German Consortium for Hereditary Breast and Ovarian Cancer (GCHBOC), Spurdle AB, Chen X, Waddell N, Cloonan N; Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab), Kirchhoff T, Offit K, Friedman E, Kaufmann B, Laitman Y, Galore G, Rennert G, Lejbkowicz F, Raskin L, Andrulis IL, Ilyushik E, Ozcelik H, Devilee P, Vreeswijk MP, Greene MH, Prindiville SA, Osorio A, Benitez J, Zikan M, Szabo CI, Kilpivaara O, Nevanlinna H, Hamann U, Durocher F, Arason A, Couch FJ, Easton DF, Chenevix-Trench G; Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). 2007. RAD51 135G->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet 81:1186-1200.
8. Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Hofmann W, Sutter C, Niederacher D, Deissler H, Caldes T, Kämpjärvi K, Nevanlinna H, Simard J, Beesley J, Chen X; Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Neuhausen SL, Rebbeck TR, Wagner T, Lynch HT, Isaacs C, Weitzel J, Ganz PA, Daly MB, Tomlinson G, Olopade OI, Blum JL, Couch FJ, Peterlongo P, Manoukian S, Barile M, Radice P, Szabo CI, Pereira LH, Greene MH, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H; OCGN, Gerdes AM, Caligo MA, Laitman Y, Kaufman B, Milgrom R, Friedman E; Swedish BRCA1 and BRCA2 study collaborators, Domchek SM, Nathanson KL, Osorio A, Llort G, Milne RL, Benítez J, Hamann U, Hogervorst FB, Manders P, Ligtenberg MJ, van den Ouweland AM; DNA-HEBON collaborators, Peock S, Cook M, Platte R, Evans DG, Eeles R, Pichert G, Chu C, Eccles D, Davidson R, Douglas F; EMBRACE, Godwin AK, Barjhoux L, Mazoyer S, Sobol H, Bourdon V, Eisinger F, Chompret A, Capoulade C, Bressac-de Paillerets B, Lenoir GM, Gauthier-Villars M, Houdayer C, Stoppa-Lyonnet D; GEMO, Chenevix-Trench G, Easton DF; CIMBA. 2008a. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet 82:937-948.
9. Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM, Healey S, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D; EMBRACE, Peock S, Cook M, Oliver C, Frost D, Eccles D, Evans DG, Eeles R, Izatt L, Chu C, Douglas F, Paterson J, Stoppa-Lyonnet D, Houdayer C, Mazoyer S, Giraud S, Lasset C, Remenieras A, Caron O, Hardouin A, Berthet P; GEMO Study Collaborators, Hogervorst FB, Rookus MA, Jager A, van den Ouweland A, Hoogerbrugge N, van der Luijt RB, Meijers-Heijboer H, Gómez García EB; HEBON, Devilee P, Vreeswijk MP, Lubinski J, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Górski B, Cybulski C, Spurdle AB, Holland H; kConFab, Goldgar DE, John EM, Hopper JL, Southey M, Buys SS, Daly MB, Terry MB, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Preisler-Adams S, Arnold N, Niederacher D, Sutter C, Domchek SM, Nathanson KL, Rebbeck T, Blum JL, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Blank SV, Friedman E, Kaufman B, Laitman Y, Milgrom R, Andrulis IL, Glendon G, Ozcelik H, Kirchhoff T, Vijai J, Gaudet MM, Altshuler D, Guiducci C; SWE-BRCA, Loman N, Harbst K, Rantala J, Ehrencrona H, Gerdes AM, Thomassen M, Sunde L, Peterlongo P, Manoukian S, Bonanni B, Viel A, Radice P, Caldes T, de la Hoya M, Singer CF, Fink-Retter A, Greene MH, Mai PL, Loud JT, Guidugli L, Lindor NM, Hansen TV, Nielsen FC, Blanco I, Lazaro C, Garber J, Ramus SJ, Gayther SA, Phelan C, Narod S, Szabo CI; MOD SQUAD, Benitez J, Osorio A, Nevanlinna H, Heikkinen T, Caligo MA, Beattie MS, Hamann U, Godwin AK, Montagna M, Casella C, Neuhausen SL, Karlan BY, Tung N, Toland AE, Weitzel J, Olopade O, Simard J, Soucy P, Rubinstein WS, Arason A, Rennert G, Martin NG, Montgomery GW, Chang-Claude J, Flesch-Janys D, Brauch H; GENICA, Severi G, Baglietto L, Cox A, Cross SS, Miron P, Gerty SM, Tapper W, Yannoukakos D, Fountzilas G, Fasching PA, Beckmann MW, Dos Santos Silva I, Peto J, Lambrechts D, Paridaens R, Rüdiger T, Försti A, Winqvist R, Pylkäs K, Diasio RB, Lee AM, Eckel-Passow J, Vachon C, Blows F, Driver K, Dunning A, Pharoah PP, Offit K, Pankratz VS, Hakonarson H, Chenevix-Trench G, Easton DF, Couch FJ. 2010a. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet 42:885-892.
10. Barnes DR, Lee A, EMBRACE Investigators, kConFab Investigators, Easton DF, Antoniou AC. Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations. Genet Epidemiol In press.
11. Begg CB, Haile RW, Borg A, Malone KE, Concannon P, Thomas DC, Langholz B, Bernstein L, Olsen JH, Lynch CF, Anton-Culver H, Capanu M, Liang X, Hummer AJ, Sima C, Bernstein JL. 2008. Variation of breast cancer risk among BRCA1/2 carriers. JAMA 299:194-201.
12. Bolton KL, Tyrer J, Song H, Ramus SJ, Notaridou M, Jones C, Sher T, Gentry-Maharaj A, Wozniak E, Tsai YY, Weidhaas J, Paik D, Van Den Berg DJ, Stram DO, Pearce CL, Wu AH, Brewster W, Anton-Culver H, Ziogas A, Narod SA, Levine DA, Kaye SB, Brown R, Paul J, Flanagan J, Sieh W, McGuire V, Whittemore AS, Campbell I, Gore ME, Lissowska J, Yang HP, Medrek K, Gronwald J, Lubinski J, Jakubowska A, Le ND, Cook LS, Kelemen LE, Brook-Wilson A, Massuger LF, Kiemeney LA, Aben KK, van Altena AM, Houlston R, Tomlinson I, Palmieri RT, Moorman PG, Schildkraut J, Iversen ES, Phelan C, Vierkant RA, Cunningham JM, Goode EL, Fridley BL, Kruger-Kjaer S, Blaeker J, Hogdall E, Hogdall C, Gross J, Karlan BY, Ness RB, Edwards RP, Odunsi K, Moyisch KB, Baker JA, Modugno F, Heikkinenen T, Butzow R, Nevanlinna H, Leminen A, Bogdanova N, Antonenkova N, Doerk T, Hillemanns P, Dürst M, Runnebaum I, Thompson PJ, Carney ME, Goodman MT, Lurie G, Wang-Gohrke S, Hein R, Chang-Claude J, Rossing MA, Cushing-Haugen KL, Doherty J, Chen C, Rafnar T, Besenbacher S, Sulem P, Stefansson K, Birrer MJ, Terry KL, Hernandez D, Cramer DW, Vergote I, Amant F, Lambrechts D, Despierre E, Fasching PA, Beckmann MW, Thiel FC, Ekici AB, Chen X; Australian Ovarian Cancer Study Group; Australian Cancer Study (Ovarian Cancer); Ovarian Cancer Association Consortium, Johnatty SE, Webb PM, Beesley J, Chanock S, Garcia-Closas M, Sellers T, Easton DF, Berchuck A, Chenevix-Trench G, Pharoah PD, Gayther SA. 2010. Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet 42:880-884.
13. Boos D.D. 1992. On generalised score tests. Am Stat 46:327-333.
14. Buzzai M, Licht JD. 2008. New molecular concepts and targets in acute myeloid leukemia. Curr Opin Hematol 15:82-87.
15. Chen S, Iversen ES, Friebel T, Finkelstein D, Weber BL, Eisen A, Peterson LE, Schildkraut JM, Isaacs C, Peshkin BN, Corio C, Leondaridis L, Tomlinson G, Dutson D, Kerber R, Amos CI, Strong LC, Berry DA, Euhus DM, Parmigiani G. 2006. Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol 24:863-871.
16. Chenevix-Trench G, Milne RL, Antoniou AC, Couch FJ, Easton DF, Goldgar DE; CIMBA. 2007. An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res 9:104 (doi:10.1186/bcr1670).
17. Couch FJ, Gaudet MM, Antoniou AA, Ramus SJ, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, Wang X, Kirchhoff T, McGuffog L, Barrowdale D, Lee A, Healey S, Sinilnikova OM, Andrulis IL, Ozcelik H, Mulligan AM, OCGN, Thomassen M, Gerdes A-M, Jensen UB, Skytte A-B, Kruse TA, Caligo MA, SWE-BRCA-, von Wachenfeldt A, Barbany-Bustinza G, Loman N, Soller M, Ehrencrona H, Karlsson P, Nathanson K, Rebbeck T, Domchek S, Jakubowska A, Lubinski J, Jaworska K, Durda K, Złowocka E, Huzarski T, Byrski T, Gronwald J, Cybulski C, Górski B, Osorio A, Durán M, Tejada MI, Benitez J, Hamann U, Hogervorst FBL, van Os TA, van Leeuwen FE. Meijers-Heijboer HEJ, Wijnen J, Blok MJ, Kets M, Hooning MJ, Oldenburg RA, Ausems MGEM, HEBON, EMBRACE, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Jacobs C, Eeles R, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Paterson P, Brewer C, Douglas F, Hodgson S, .Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Side LE, Bove B, Godwin AK, GEMO Study Collaborators, Stoppa-Lyonnet D, Fassy-Colcombet M, Castera L, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Bressac-de Paillerets B, Caron O, Pujol P, Coupier I, Delnatte C, Akloul L, Lynch HT, Snyder CL, Buys SS, Daly MB, Terry MB, Chung WJ, John EM, Miron A, Southey MC, Hopper JL, Goldgar D, Singer CF, Rappaport C, Tea MM-K, Retter A-F, Hansen TVO, Nielsen FC, Arason A, Vijai J, Shah S, Sarrel K, Robson M, Piedmonte M, Phillips K, Basil J, Rubinstein W, Boggess J, Wakeley K, Toland AE, Montagna M, Agata S, Imyanitov E, Isaacs C, Janavicius R, Lazaro C, Blanco I, Feliubadalo L, Brunet J, Gayther SA, Pharoah PPD, Odunsi K, Karlan B, Walsh CS, Olah E, Teo SH, Ganz PA, Beattie MS, van Rensburg EJ, Dorfling CM, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Heinritz W, Caldes T, de la Hoya M, Muranen TA, Nevanlinna H, Tischkowitz M, Spurdle AB, kConFab investigators, Neuhausen SL, Ding YC, Lindor N, Fredericksen Z, Pankratz VN, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Bernard L, Viel A, Giannini G, Varesco L, Radice P, Greene MH, Mai PH, Easton DF, Chenevix-Trench G, Offit K, Simard J. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers Cancer Epi Bio Prevent (In Press).
18. Easton DF, Eeles RA. 2008. Genome-wide association studies in cancer. Hum Mol Genet 17:R109-R115.
19. Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R; SEARCH collaborators, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Eccles D, Evans DG, Peto J, Fletcher O, Johnson N, Seal S, Stratton MR, Rahman N, Chenevix-Trench G, Bojesen SE, Nordestgaard BG, Axelsson CK, Garcia-Closas M, Brinton L, Chanock S, Lissowska J, Peplonska B, Nevanlinna H, Fagerholm R, Eerola H, Kang D, Yoo KY, Noh DY, Ahn SH, Hunter DJ, Hankinson SE, Cox DG, Hall P, Wedren S, Liu J, Low YL, Bogdanova N, Schürmann P, Dörk T, Tollenaar RA, Jacobi CE, Devilee P, Klijn JG, Sigurdson AJ, Doody MM, Alexander BH, Zhang J, Cox A, Brock IW, MacPherson G, Reed MW, Couch FJ, Goode EL, Olson JE, Meijers-Heijboer H, van den Ouweland A, Uitterlinden A, Rivadeneira F, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Hopper JL, McCredie M, Southey M, Giles GG, Schroen C, Justenhoven C, Brauch H, Hamann U, Ko YD, Spurdle AB, Beesley J, Chen X; kConFab; AOCS Management Group, Mannermaa A, Kosma VM, Kataja V, Hartikainen J, Day NE, Cox DR, Ponder BA. 2007. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447:1087-1093.
20. Fang L, Seki A, Fang G. 2009. SKAP associates with kinetochores and promotes the metaphase-to-anaphase transition. Cell Cycle 8:2819-2827.
21. Fong PC, Boss DS, Yap TA, Tutt A, Wu P, Mergui-Roelvink M, Mortimer P, Swaisland H, Lau A, O'Connor MJ, Ashworth A, Carmichael J, Kaye SB, Schellens JH, de Bono JS. 2009. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 361:123-134.
22. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M, and the Breast Cancer Linkage Consortium. 1998. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62:676-689.
23. Gold B, Kirchhoff T, Stefanov S, Lautenberger J, Viale A, Garber J, Friedman E, Narod S, Olshen AB, Gregersen P, Kosarin K, Olsh A, Bergeron J, Ellis NA, Klein RJ, Clark AG, Norton L, Dean M, Boyd J, Offit K. 2008. Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Proc Natl Acad Sci USA 105:4340-4345.
24. Goode EL, Chenevix-Trench G, Song H, Ramus SJ, Notaridou M, Lawrenson K, Widschwendter M, Vierkant RA, Larson MC, Kjaer SK, Birrer MJ, Berchuck A, Schildkraut J, Tomlinson I, Kiemeney LA, Cook LS, Gronwald J, Garcia-Closas M, Gore ME, Campbell I, Whittemore AS, Sutphen R, Phelan C, Anton-Culver H, Pearce CL, Lambrechts D, Rossing MA, Chang-Claude J, Moysich KB, Goodman MT, Dörk T, Nevanlinna H, Ness RB, Rafnar T, Hogdall C, Hogdall E, Fridley BL, Cunningham JM, Sieh W, McGuire V, Godwin AK, Cramer DW, Hernandez D, Levine D, Lu K, Iversen ES, Palmieri RT, Houlston R, van Altena AM, Aben KK, Massuger LF, Brooks-Wilson A, Kelemen LE, Le ND, Jakubowska A, Lubinski J, Medrek K, Stafford A, Easton DF, Tyrer J, Bolton KL, Harrington P, Eccles D, Chen A, Molina AN, Davila BN, Arango H, Tsai YY, Chen Z, Risch HA, McLaughlin J, Narod SA, Ziogas A, Brewster W, Gentry-Maharaj A, Menon U, Wu AH, Stram DO, Pike MC; Wellcome Trust Case-Control Consortium, Beesley J, Webb PM Australian Cancer Study (Ovarian Cancer); Australian Ovarian Cancer Study Group; Ovarian Cancer Association Consortium (OCAC), Chen X, Ekici AB, Thiel FC, Beckmann MW, Yang H, Wentzensen N, Lissowska J, Fasching PA, Despierre E, Amant F, Vergote I, Doherty J, Hein R, Wang-Gohrke S, Lurie G, Carney ME, Thompson PJ, Runnebaum I, Hillemanns P, Dürst M, Antonenkova N, Bogdanova N, Leminen A, Butzow R, Heikkinen T, Stefansson K, Sulem P, Besenbacher S, Sellers TA, Gayther SA, Pharoah PD; Ovarian Cancer Association Consortium (OCAC). 2010. A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet 42:874-879.
25. Guan Y, Kuo WL, Stilwell JL, Takano H, Lapuk AV, Fridlyand J, Mao JH, Yu M, Miller MA, Santos JL, Kalloger SE, Carlson JW, Ginzinger DG, Celniker SE, Mills GB, Huntsman DG, Gray JW. 2007. Amplification of PVT1 contributes to the pathophysiology of ovarian and breast cancer. Clin Cancer Res 13:5745-5755.
26. Hopper JL, Southey MC, Dite GS, Jolley DJ, Giles GG, McCredie MR, Easton DF, Venter DJ. 1999. Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. Cancer Epidem Biomar Prev 8:741-747.
27. Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, Hankinson SE, Wacholder S, Wang Z, Welch R, Hutchinson A, Wang J, Yu K, Chatterjee N, Orr N, Willett WC, Colditz GA, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Hayes RB, Tucker M, Gerhard DS, Fraumeni JF Jr, Hoover RN, Thomas G, Chanock SJ. 2007. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 39:870-874.
28. Jia L, Landan G, Pomerantz M, Jaschek R, Herman P, Reich D, Yan C, Khalid O, Kantoff P, Oh W, Manak JR, Berman BP, Henderson BE, Frenkel B, Haiman CA, Freedman M, Tanay A, Coetzee GA. 2009. Functional enhancers at the gene-poor 8q24 cancer-linked locus. PLoS Genet 5:e1000597. Epub 2009 Aug 14.
29. Kosco KA, Cerignoli F, Williams S, Abraham RT, Mustelin T. 2008. SKAP55 modulates T cell antigen receptor-induced activation of the Ras-Erk-AP1 pathway by binding RasGRP1. Mol Immunol 45:510-522.
30. Lange K, Weeks D, Boehnke M. 1988. Programs for Pedigree Analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol 5:471-472.
31. McCarthy MI, Hirschhorn JN. 2008. Genome-wide association studies: past, present and future. Hum Mol Genet 17:R100-R101.
32. Meyer KB, Maia AT, O'Reilly M, Ghoussaini M, Prathalingam R, Porter-Gill P, Ambs S, Prokunina-Olsson L, Carroll J, Ponder BA. A Functional Variant at a Prostate Cancer Predisposition Locus at 8q24 Is Associated with PVT1 Expression. PLoS Genet 2011 7:e1002165. doi: 10.1371/journal.pgen.1002165. Epub 2011 Jul 21.
33. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure C, Frye C, Hattier T, Phelps P, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow P, Norris F, Helvering L, Morrison P, Rosteck P, Lai M, Barrett C, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wisemen R, Kamb A, Skolnick MH. 1994. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71.
34. Milne RL, Osorio A, Cajal TR, Vega A, Llort G, de la Hoya M, Díez O, Alonso MC, Lazaro C, Blanco I, Sánchez-de-Abajo A, Caldés T, Blanco A, Graña B, Durán M, Velasco E, Chirivella I, Cardeñosa EE, Tejada MI, Beristain E, Miramar MD, Calvo MT, Martínez E, Guillén C, Salazar R, San Román C, Antoniou AC, Urioste M, Benítez J. 2008. The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain. Clin Cancer Res 14:2861-2869.
35. Pomerantz MM, Ahmadiyeh N, Jia L, Herman P, Verzi MP, Doddapaneni H, Beckwith CA, Chan JA, Hills A, Davis M, Yao K, Kehoe SM, Lenz HJ, Haiman CA, Yan C, Henderson BE, Frenkel B, Barretina J, Bass A, Tabernero J, Baselga J, Regan MM, Manak JR, Shivdasani R, Coetzee GA, Freedman ML. 2009. The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer. Nat Genet 41:882-884.
36. Ramus SJ, Kartsonaki C, Gayther SA, Pharoah PD, Sinilnikova OM, Beesley J, Chen X, McGuffog L, Healey S, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Allavena A, Ottini L, Papi L, Gismondi V, Capra F, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H; OCGN, Thomassen M, Gerdes AM, Kruse TA, Cruger D, Jensen UB, Caligo MA, Olsson H, Kristoffersson U, Lindblom A, Arver B, Karlsson P, Stenmark Askmalm M, Borg A, Neuhausen SL, Ding YC, Nathanson KL, Domchek SM, Jakubowska A, Lubiński J, Huzarski T, Byrski T, Gronwald J, Górski B, Cybulski C, Debniak T, Osorio A, Durán M, Tejada MI, Benítez J, Hamann U, Rookus MA, Verhoef S, Tilanus-Linthorst MA, Vreeswijk MP, Bodmer D, Ausems MG, van Os TA, Asperen CJ, Blok MJ, Meijers-Heijboer HE; HEBON; EMBRACE, Peock S, Cook M, Oliver C, Frost D, Dunning AM, Evans DG, Eeles R, Pichert G, Cole T, Hodgson S, Brewer C, Morrison PJ, Porteous M, Kennedy MJ, Rogers MT, Side LE, Donaldson A, Gregory H, Godwin A, Stoppa-Lyonnet D, Moncoutier V, Castera L, Mazoyer S, Barjhoux L, Bonadona V, Leroux D, Faivre L, Lidereau R, Nogues C, Bignon YJ, Prieur F, Collonge-Rame MA, Venat-Bouvet L, Fert-Ferrer S; GEMO Study Collaborators, Miron A, Buys SS, Hopper JL, Daly MB, John EM, Terry MB, Goldgar D; BCFR, Hansen TO, Jønson L, Ejlertsen B, Agnarsson BA, Offit K, Kirchhoff T, Vijai J, Dutra-Clarke AV, Przybylo JA, Montagna M, Casella C, Imyanitov EN, Janavicius R, Blanco I, Lázaro C, Moysich KB, Karlan BY, Gross J, Beattie MS, Schmutzler R, Wappenschmidt B, Meindl A, Ruehl I, Fiebig B, Sutter C, Arnold N, Deissler H, Varon-Mateeva R, Kast K, Niederacher D, Gadzicki D, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Simard J, Soucy P; kConFab Investigators, Spurdle AB, Holland H, Chenevix-Trench G, Easton DF, Antoniou AC; Consortium of Investigators of Modifiers of BRCA1/2. 2011. Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 103:105-116.
37. Safran M, Dalah I, Alexander J, Rosen N, Iny Stein T, Shmoish M, Nativ N, Bahir I, Doniger T, Krug H, Sirota-Madi A, Olender T, Golan Y, Stelzer G, Harel A, Lancet D. 2010. GeneCards Version 3: the human gene integrator database 2010; doi: 10.1093/database/baq020 Database (Oxford). 2010 Aug 5;2010:baq020. Print 2010.
38. Shiraishi M, Sekiguchi A, Oates AJ, Terry MJ, Miyamoto Y. 2002. HOX gene clusters are hotspots of de novo methylation in CpG islands of human lung adenocarcinomas. Oncogene 21:3659-3662.
39. Simchoni S, Friedman E, Kaufman B, Gershoni-Baruch R, Orr-Urtreger A, Kedar-Barnes I, Shiri-Sverdlov R, Dagan E, Tsabari S, Shohat M, Catane R, King MC, Lahad A, Levy-Lahad E. 2006. Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci USA 103:3770-3774.
40. Song H, Ramus SJ, Tyrer J, Bolton KL, Gentry-Maharaj A, Wozniak E, Anton-Culver H, Chang-Claude J, Cramer DW, DiCioccio R, Dörk T, Goode EL, Goodman MT, Schildkraut JM, Sellers T, Baglietto L, Beckmann MW, Beesley J, Blaakaer J, Carney ME, Chanock S, Chen Z, Cunningham JM, Dicks E, Doherty JA, Dürst M, Ekici AB, Fenstermacher D, Fridley BL, Giles G, Gore ME, De Vivo I, Hillemanns P, Hogdall C, Hogdall E, Iversen ES, Jacobs IJ, Jakubowska A, Li D, Lissowska J, Lubiński J, Lurie G, McGuire V, McLaughlin J, Medrek K, Moorman PG, Moysich K, Narod S, Phelan C, Pye C, Risch H, Runnebaum IB, Severi G, Southey M, Stram DO, Thiel FC, Terry KL, Tsai YY, Tworoger SS, Van Den Berg DJ, Vierkant RA, Wang-Gohrke S, Webb PM, Wilkens LR, Wu AH, Yang H, Brewster W, Ziogas A; Australian Cancer (Ovarian) Study; Australian Ovarian Cancer Study Group; Ovarian Cancer Association Consortium, Houlston R, Tomlinson I, Whittemore AS, Rossing MA, Ponder BA, Pearce CL, Ness RB, Menon U, Kjaer SK, Gronwald J, Garcia-Closas M, Fasching PA, Easton DF, Chenevix-Trench G, Berchuck A, Pharoah PD, Gayther SA. 2009. A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet 41:996-1000.
41. Struewing JP, Hartge P, Wacholder S. 1997. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336:1401-1408.
42. Thomas G, Jacobs KB, Kraft P, Yeager M, Wacholder S, Cox DG, Hankinson SE, Hutchinson A, Wang Z, Yu K, Chatterjee N, Garcia-Closas M, Gonzalez-Bosquet J, Prokunina-Olsson L, Orr N, Willett WC, Colditz GA, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Diver R, Prentice R, Jackson R, Kooperberg C, Chlebowski R, Lissowska J, Peplonska B, Brinton LA, Sigurdson A, Doody M, Bhatti P, Alexander BH, Buring J, Lee IM, Vatten LJ, Hveem K, Kumle M, Hayes RB, Tucker M, Gerhard DS, Fraumeni JF Jr, Hoover RN, Chanock SJ, Hunter DJ. 2009. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet 41:579-584.
43. Thompson D, Easton D, Breast Cancer Linkage Consortium. 2002. Variation in BRCA1 cancer risks by mutation position. Cancer Epidem Biomark Prev 11:329-336.
44. Thompson D, Easton D, the BCLC. 2001. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 68:410-419.
45. Wacholder S, Han SS, Weinberg CR. 2011. Inference from a multiplicative model of joint genetic effects or ovarian cancer risk. J Natl Cancer Inst 103:82-83.
46. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G. 1995. Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-792.