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Genome - wide association study identifies novel breast cancer susceptibility loci

Easton, Douglas F., Pooley, Karen A., Dunning, Alison M., Pharoah, Paul D. P., Thompson, Deborah, Ballinger, Dennis G., Struewing, Jeffery P., Morrison, Jonathan, Field, Helen, Luben, Robert, Wareham, Nicholas, Ahmed, Shahana, Healey, Catherine S., Bowman, Richard, Luccarini, Craig, Conroy, Don, Shah, Mitul, Munday, Hannah, Jordan, Clare, Perkins, Barbara, West, Judy, Redman, Karen, Driver, Kristy, Meyer, Kerstin B., Haiman, Christopher A., Kolonel, Laurence K., Henderson, Brian E., Le Marchand, Loic, Brennan, Paul, Sangrajrang, Suleeporn, Gaborieau, Valerie, Odefrey, Fabrice, Shen, Chen-Yang, Wu, Pei-Ei, Wang, Hui-Chun, Eccles, Diana, Evans, D. Gareth, Peto, Julian, Fletcher, Olivia, Johnson, Nichola, Seal, Sheila, Stratton, Michael R., Rahman, Nazneen, Chenevix-Trench, Georgia, Bojesen, Stig E., Nordestgaard, Børge G., Axelsson, Christen K., Garcia-Closas, Montserrat, Brinton, Louise, Chanock, Stephen, Lissowska, Jolanta, Peplonska, Beata, Nevanlinna, Heli, Fagerholm, Rainer, Eerola, Hannaleena, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Hunter, David J., Hankinson, Susan E., Cox, David G., Hall, Per, Wedren, Sara, Liu, Jianjun, Low, Yen-Ling, Bogdanova, Natalia, Schürmann, Peter, Dörk, Thilo, Tollenaar, Rob A. E. M., Jacobi, Catharina E., Devilee, Peter, Klijn, Jan G. M., Sigurdson, Alice J., Doody, Michele M., Alexander, Bruce H., Zhang, Jinghui, Cox, Angela, Brock, Ian W., MacPherson, Gordon, Reed, Malcolm W. R., Couch, Fergus J., Goode, Ellen L., Olson, Janet E., Meijers-Heijboer, Hanne, van den Ouweland, Ans, Uitterlinden, André, Rivadeneira, Fernando, Milne, Roger L., Ribas, Gloria, Gonzalez-Neira, Anna, Benitez, Javier, Hopper, John L., McCredie, Margaret, Southey, Melissa, Giles, Graham G., Schroen, Chris, Justenhoven, Christina, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Aghmesheh, Morteza, Amor, David, Andrews, Lesley, Antill, Yoland, Armes, Jane, Armitage, Shane, Arnold, Leanne, Balleine, Rosemary, Begley, Glenn, Beilby, John, Bennett, Ian, Bennett, Barbara, Berry, Geoffrey, Blackburn, Anneke, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Byron, Keith, Callen, David, Campbell, Ian, Clarke, Christine, Colley, Alison, Cotton, Dick, Cui, Jisheng, Culling, Bronwyn, Cummings, Margaret, Dawson, Sarah-Jane, Dixon, Joanne, Dobrovic, Alexander, Dudding, Tracy, Edkins, Ted, Eisenbruch, Maurice, Farshid, Gelareh, Fawcett, Susan, Field, Michael, Firgaira, Frank, Fleming, Jean, Forbes, John, Friedlander, Michael, Gaff, Clara, Gardner, Mac, Gattas, Mike, George, Peter, Gill, Grantley, Goldblatt, Jack, Greening, Sian, Grist, Scott, Haan, Eric, Harris, Marion, Hart, Stewart, Hayward, Nick, Humphrey, Evelyn, Jenkins, Mark, Jones, Alison, Kefford, Rick, Kirk, Judy, Kollias, James, Kovalenko, Sergey, Lakhani, Sunil, Leary, Jennifer, Lim, Jacqueline, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Maclurcan, Mariette, Mann, Graham, Marsh, Deborah, McKay, Michael, McLachlan, Sue Anne, Meiser, Bettina, Mitchell, Gillian, Newman, Beth, O’Loughlin, Imelda, Osborne, Richard, Peters, Lester, Phillips, Kelly, Price, Melanie, Reeve, Jeanne, Reeve, Tony, Richards, Robert, Rinehart, Gina, Robinson, Bridget, Rudzki, Barney, Salisbury, Elizabeth, Sambrook, Joe, Saunders, Christobel, Scott, Clare, Scott, Elizabeth, Scott, Rodney, Seshadri, Ram, Shelling, Andrew, Suthers, Graeme, Taylor, Donna, Tennant, Christopher, Thorne, Heather, Townshend, Sharron, Tucker, Kathy, Tyler, Janet, Venter, Deon, Visvader, Jane, Walpole, Ian, Ward, Robin, Waring, Paul, Warner, Bev, Warren, Graham, Watson, Elizabeth, Williams, Rachael, Wilson, Judy, Winship, Ingrid, Young, Mary Ann, Bowtell, David, Green, Adele, de Fazio, Anna, Gertig, Dorota, Webb, Penny, Mannermaa, Arto, Kosma, Veli-Matti, Kataja, Vesa, Hartikainen, Jaana, Day, Nicholas E., Cox, David R. and Ponder, Bruce A. J. 2007, Genome - wide association study identifies novel breast cancer susceptibility loci, Nature, vol. 447, no. 7148, pp. 1087-93.

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Title Genome - wide association study identifies novel breast cancer susceptibility loci
Author(s) Easton, Douglas F.
Pooley, Karen A.
Dunning, Alison M.
Pharoah, Paul D. P.
Thompson, Deborah
Ballinger, Dennis G.
Struewing, Jeffery P.
Morrison, Jonathan
Field, Helen
Luben, Robert
Wareham, Nicholas
Ahmed, Shahana
Healey, Catherine S.
Bowman, Richard
Luccarini, Craig
Conroy, Don
Shah, Mitul
Munday, Hannah
Jordan, Clare
Perkins, Barbara
West, Judy
Redman, Karen
Driver, Kristy
Meyer, Kerstin B.
Haiman, Christopher A.
Kolonel, Laurence K.
Henderson, Brian E.
Le Marchand, Loic
Brennan, Paul
Sangrajrang, Suleeporn
Gaborieau, Valerie
Odefrey, Fabrice
Shen, Chen-Yang
Wu, Pei-Ei
Wang, Hui-Chun
Eccles, Diana
Evans, D. Gareth
Peto, Julian
Fletcher, Olivia
Johnson, Nichola
Seal, Sheila
Stratton, Michael R.
Rahman, Nazneen
Chenevix-Trench, Georgia
Bojesen, Stig E.
Nordestgaard, Børge G.
Axelsson, Christen K.
Garcia-Closas, Montserrat
Brinton, Louise
Chanock, Stephen
Lissowska, Jolanta
Peplonska, Beata
Nevanlinna, Heli
Fagerholm, Rainer
Eerola, Hannaleena
Kang, Daehee
Yoo, Keun-Young
Noh, Dong-Young
Ahn, Sei-Hyun
Hunter, David J.
Hankinson, Susan E.
Cox, David G.
Hall, Per
Wedren, Sara
Liu, Jianjun
Low, Yen-Ling
Bogdanova, Natalia
Schürmann, Peter
Dörk, Thilo
Tollenaar, Rob A. E. M.
Jacobi, Catharina E.
Devilee, Peter
Klijn, Jan G. M.
Sigurdson, Alice J.
Doody, Michele M.
Alexander, Bruce H.
Zhang, Jinghui
Cox, Angela
Brock, Ian W.
MacPherson, Gordon
Reed, Malcolm W. R.
Couch, Fergus J.
Goode, Ellen L.
Olson, Janet E.
Meijers-Heijboer, Hanne
van den Ouweland, Ans
Uitterlinden, André
Rivadeneira, Fernando
Milne, Roger L.
Ribas, Gloria
Gonzalez-Neira, Anna
Benitez, Javier
Hopper, John L.
McCredie, Margaret
Southey, Melissa
Giles, Graham G.
Schroen, Chris
Justenhoven, Christina
Brauch, Hiltrud
Hamann, Ute
Ko, Yon-Dschun
Spurdle, Amanda B.
Beesley, Jonathan
Chen, Xiaoqing
Aghmesheh, Morteza
Amor, David
Andrews, Lesley
Antill, Yoland
Armes, Jane
Armitage, Shane
Arnold, Leanne
Balleine, Rosemary
Begley, Glenn
Beilby, John
Bennett, Ian
Bennett, Barbara
Berry, Geoffrey
Blackburn, Anneke
Brennan, Meagan
Brown, Melissa
Buckley, Michael
Burke, Jo
Butow, Phyllis
Byron, Keith
Callen, David
Campbell, Ian
Clarke, Christine
Colley, Alison
Cotton, Dick
Cui, Jisheng
Culling, Bronwyn
Cummings, Margaret
Dawson, Sarah-Jane
Dixon, Joanne
Dobrovic, Alexander
Dudding, Tracy
Edkins, Ted
Eisenbruch, Maurice
Farshid, Gelareh
Fawcett, Susan
Field, Michael
Firgaira, Frank
Fleming, Jean
Forbes, John
Friedlander, Michael
Gaff, Clara
Gardner, Mac
Gattas, Mike
George, Peter
Gill, Grantley
Goldblatt, Jack
Greening, Sian
Grist, Scott
Haan, Eric
Harris, Marion
Hart, Stewart
Hayward, Nick
Humphrey, Evelyn
Jenkins, Mark
Jones, Alison
Kefford, Rick
Kirk, Judy
Kollias, James
Kovalenko, Sergey
Lakhani, Sunil
Leary, Jennifer
Lim, Jacqueline
Lindeman, Geoff
Lipton, Lara
Lobb, Liz
Maclurcan, Mariette
Mann, Graham
Marsh, Deborah
McKay, Michael
McLachlan, Sue Anne
Meiser, Bettina
Mitchell, Gillian
Newman, Beth
O’Loughlin, Imelda
Osborne, Richard
Peters, Lester
Phillips, Kelly
Price, Melanie
Reeve, Jeanne
Reeve, Tony
Richards, Robert
Rinehart, Gina
Robinson, Bridget
Rudzki, Barney
Salisbury, Elizabeth
Sambrook, Joe
Saunders, Christobel
Scott, Clare
Scott, Elizabeth
Scott, Rodney
Seshadri, Ram
Shelling, Andrew
Suthers, Graeme
Taylor, Donna
Tennant, Christopher
Thorne, Heather
Townshend, Sharron
Tucker, Kathy
Tyler, Janet
Venter, Deon
Visvader, Jane
Walpole, Ian
Ward, Robin
Waring, Paul
Warner, Bev
Warren, Graham
Watson, Elizabeth
Williams, Rachael
Wilson, Judy
Winship, Ingrid
Young, Mary Ann
Bowtell, David
Green, Adele
de Fazio, Anna
Gertig, Dorota
Webb, Penny
Mannermaa, Arto
Kosma, Veli-Matti
Kataja, Vesa
Hartikainen, Jaana
Day, Nicholas E.
Cox, David R.
Ponder, Bruce A. J.
Journal name Nature
Volume number 447
Issue number 7148
Start page 1087
End page 93
Publisher Nature Publishing Group
Place of publication Basingstoke, England
Publication date 2007-06-28
ISSN 0028-0836
1476-4687
Keyword(s) Alleles
Asia, Southeastern
Australia
breast neoplasms
case-control studies
Europe/ethnology
female
genetic predisposition to disease
Summary Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the familial risk of breast cancer, and the residual genetic variance is likely to be due to variants conferring more moderate risks. To identify further susceptibility alleles, we conducted a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls, followed by a third stage in which 30 single nucleotide polymorphisms (SNPs) were tested for confirmation in 21,860 cases and 22,578 controls from 22 studies. We used 227,876 SNPs that were estimated to correlate with 77% of known common SNPs in Europeans at r2 > 0.5. SNPs in five novel independent loci exhibited strong and consistent evidence of association with breast cancer (P < 10-7). Four of these contain plausible causative genes (FGFR2, TNRC9, MAP3K1 and LSP1). At the second stage, 1,792 SNPs were significant at the P < 0.05 level compared with an estimated 1,343 that would be expected by chance, indicating that many additional common susceptibility alleles may be identifiable by this approach.
Language eng
Field of Research 111203 Cancer Genetics
Socio Economic Objective 970111 Expanding Knowledge in the Medical and Health Sciences
HERDC Research category C1.1 Refereed article in a scholarly journal
Copyright notice ©2007, Nature Publishing Group
Persistent URL http://hdl.handle.net/10536/DRO/DU:30025314

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Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.