Evaluating Genome-Wide Association Study-Identified Breast Cancer Risk Variants in African-American Women

被引：66

作者：

Long, Jirong ^{[1
]}

Zhang, Ben ^{[1
]}

Signorello, Lisa B. ^{[1
,2
]}

Cai, Qiuyin ^{[1
]}

Deming-Halverson, Sandra ^{[1
]}

Shrubsole, Martha J. ^{[1
]}

Sanderson, Maureen ^{[3
]}

Dennis, Joe ^{[4
]}

Michailiou, Kyriaki ^{[4
]}

Easton, Douglas F. ^{[4
,5
]}

Shu, Xiao-Ou ^{[1
]}

Blot, William J. ^{[1
,2
]}

Zheng, Wei ^{[1
]}

机构：

[1] Vanderbilt Univ, Sch Med, Vanderbilt Ingram Canc Ctr, Vanderbilt Epidemiol Ctr,Dept Med,Div Epidemiol, Nashville, TN 37212 USA

[2] Int Epidemiol Inst, Rockville, MD USA

[3] Meharry Med Coll, Nashville, TN 37208 USA

[4] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England

[5] Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England

来源：

PLOS ONE | 2013年 / 8卷 / 04期

基金：

美国国家卫生研究院;

关键词：

SUSCEPTIBILITY LOCI; COMMON VARIANTS; CONFER SUSCEPTIBILITY; GENETIC-VARIANTS; CHROMOSOME; 5P12; FGFR2; HEALTH; ADMIXTURE; ALLELES;

D O I：

10.1371/journal.pone.0058350

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Genome-wide association studies (GWAS), conducted mostly in European or Asian descendants, have identified approximately 67 genetic susceptibility loci for breast cancer. Given the large differences in genetic architecture between the African-ancestry genome and genomes of Asians and Europeans, it is important to investigate these loci in African-ancestry populations. We evaluated index SNPs in all 67 breast cancer susceptibility loci identified to date in our study including up to 3,300 African-American women (1,231 cases and 2,069 controls), recruited in the Southern Community Cohort Study (SCCS) and the Nashville Breast Health Study (NBHS). Seven SNPs were statistically significant (P <= 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). A marginally significant association (P<0.10) was found for three additional SNPs: rs1045485 (2q33/CASP8), rs4849887 (2q14/INHBB), and rs4808801 (19p13/ELL). Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs17529111 (6q14/FAM46A), showed a significant association in analyses conducted by breast cancer subtype. The risk of breast cancer was elevated with an increasing number of risk variants, as measured by quintile of the genetic risk score, from 1.00 (reference), to 1.75 (1.30-2.37), 1.56 (1.15-2.11), 2.02 (1.50-2.74) and 2.63 (1.96-3.52), respectively, (P = 7.8 x 10(-10)). Results from this study highlight the need for large genetic studies in AAs to identify risk variants impacting this population.

引用

页数：7

共 39 条

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Ahmed, Shahana ;

Thomas, Gilles ;

Ghoussaini, Maya ;

Healey, Catherine S. ;

Humphreys, Manjeet K. ;

Platte, Radka ;

Morrison, Jonathan ;

Maranian, Melanie ;

Pooley, Karen A. ;

Luben, Robert ;

Eccles, Diana ;

Evans, D. Gareth ;

Fletcher, Olivia ;

Johnson, Nichola ;

Silva, Isabel dos Santos ;

Peto, Julian ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Jacobs, Kevin ;

Prentice, Ross ;

Anderson, Garnet L. ;

Rajkovic, Aleksandar ;

Curb, J. David ;

Ziegler, Regina G. ;

Berg, Christine D. ;

Buys, Saundra S. ;

McCarty, Catherine A. ;

Feigelson, Heather Spencer ;

Calle, Eugenia E. ;

Thun, Michael J. ;

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Bojesen, Stig ;

Nordestgaard, Borge G. ;

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Schuermann, Peter ;

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Bogdanova, Natalia V. ;

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John, Esther M. ;

Ambrosone, Christine B. ;

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Zheng, Wei ;

Hu, Jennifer J. ;

Ziegler, Regina G. ;

Deming, Sandra L. ;

Bandera, Elisa V. ;

Nyante, Sarah ;

Palmer, Julie R. ;

Rebbeck, Timothy R. ;

Ingles, Sue A. ;

Press, Michael F. ;

Rodriguez-Gil, Jorge L. ;

Chanock, Stephen J. ;

Le Marchand, Loic ;

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Henderson, Brian E. ;

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Haiman, Christopher A. .

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Cox, Angela ;

Dunning, Alison M. ;

Garcia-Closas, Montserrat ;

Balasubramanian, Sabapathy ;

Reed, Malcolm W. R. ;

Pooley, Karen A. ;

Scollen, Serena ;

Baynes, Caroline ;

Ponder, Bruce A. J. ;

Chanock, Stephen ;

Lissowska, Jolanta ;

Brinton, Louise ;

Peplonska, Beata ;

Southey, Melissa C. ;

Hopper, John L. ;

McCredie, Margaret R. E. ;

Giles, Graham G. ;

Fletcher, Olivia ;

Johnson, Nichola ;

dos Santos Silva, Isabel ;

Gibson, Lorna ;

Bojesen, Stig E. ;

Nordestgaard, Borge G. ;

Axelsson, Christen K. ;

Torres, Diana ;

Hamann, Ute ;

Justenhoven, Christina ;

Brauch, Hiltrud ;

Chang-Claude, Jenny ;

Kropp, Silke ;

Risch, Angela ;

Wang-Gohrke, Shan ;

Schuermann, Peter ;

Bogdanova, Natalia ;

Doerk, Thilo ;

Fagerholm, Rainer ;

Aaltonen, Kirsimari ;

Blomqvist, Carl ;

Nevanlinna, Heli ;

Seal, Sheila ;

Renwick, Anthony ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Sangrajrang, Suleeporn ;

Hughes, David ;

Odefrey, Fabrice ;

Brennan, Paul ;

Spurdle, Amanda B. ;

Chenevix-Trench, Georgia ;

Beesley, Jonathan .

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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 ;

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, Borge 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 .

NATURE, 2007, 447 (7148) :1087-U7

[8] An Admixture Scan in 1,484 African American Women with Breast Cancer [J].

Fejerman, Laura ;

Haiman, Christopher A. ;

Reich, David ;

Tandon, Arti ;

Deo, Rahul C. ;

John, Esther M. ;

Ingles, Sue A. ;

Ambrosone, Christine B. ;

Bovbjerg, Dana Howard ;

Jandorf, Lina H. ;

Davis, Warren ;

Ciupak, Gregory ;

Whittemore, Alice S. ;

Press, Michael F. ;

Ursin, Giske ;

Bernstein, Leslie ;

Huntsman, Scott ;

Henderson, Brian E. ;

Ziv, Elad ;

Freedman, Matthew L. .

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2009, 18 (11) :3110-3117

[9] Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study [J].

Fletcher, Olivia ;

Johnson, Nichola ;

Orr, Nick ;

Hosking, Fay J. ;

Gibson, Lorna J. ;

Walker, Kate ;

Zelenika, Diana ;

Gut, Ivo ;

Heath, Simon ;

Palles, Claire ;

Coupland, Ben ;

Broderick, Peter ;

Schoemaker, Minouk ;

Jones, Michael ;

Williamson, Jill ;

Chilcott-Burns, Sarah ;

Tomczyk, Katarzyna ;

Simpson, Gemma ;

Jacobs, Kevin B. ;

Chanock, Stephen J. ;

Hunter, David J. ;

Tomlinson, Ian P. ;

Swerdlow, Anthony ;

Ashworth, Alan ;

Ross, Gillian ;

Silva, Isabel dos Santos ;

Lathrop, Mark ;

Houlston, Richard S. ;

Peto, Julian .

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2011, 103 (05) :425-435

[10] Genome-wide association analysis identifies three new breast cancer susceptibility loci [J].

Ghoussaini, Maya ;

Fletcher, Olivia ;

Michailidou, Kyriaki ;

Turnbull, Clare ;

Schmidt, Marjanka K. ;

Dicks, Ed ;

Dennis, Joe ;

Wang, Qin ;

Humphreys, Manjeet K. ;

Luccarini, Craig ;

Baynes, Caroline ;

Conroy, Don ;

Maranian, Melanie ;

Ahmed, Shahana ;

Driver, Kristy ;

Johnson, Nichola ;

Orr, Nicholas ;

Silva, Isabel dos Santos ;

Waisfisz, Quinten ;

Meijers-Heijboer, Hanne ;

Uitterlinden, Andre G. ;

Rivadeneira, Fernando ;

Hall, Per ;

Czene, Kamila ;

Irwanto, Astrid ;

Liu, Jianjun ;

Nevanlinna, Heli ;

Aittomaki, Kristiina ;

Blomqvist, Carl ;

Meindl, Alfons ;

Schmutzler, Rita K. ;

Mueller-Myhsok, Bertram ;

Lichtner, Peter ;

Chang-Claude, Jenny ;

Hein, Rebecca ;

Nickels, Stefan ;

Flesch-Janys, Dieter ;

Tsimiklis, Helen ;

Makalic, Enes ;

Schmidt, Daniel ;

Bui, Minh ;

Hopper, John L. ;

Apicella, Carmel ;

Park, Daniel J. ;

Southey, Melissa ;

Hunter, David J. ;

Chanock, Stephen J. ;

Broeks, Annegien ;

Verhoef, Senno ;

Hogervorst, Frans B. L. .

NATURE GENETICS, 2012, 44 (03) :312-U120

← 1 2 3 4 →

共 39 条

[1] Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2 [J].

Ahmed, Shahana ;

Thomas, Gilles ;

Ghoussaini, Maya ;

Healey, Catherine S. ;

Humphreys, Manjeet K. ;

Platte, Radka ;

Morrison, Jonathan ;

Maranian, Melanie ;

Pooley, Karen A. ;

Luben, Robert ;

Eccles, Diana ;

Evans, D. Gareth ;

Fletcher, Olivia ;

Johnson, Nichola ;

Silva, Isabel dos Santos ;

Peto, Julian ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Jacobs, Kevin ;

Prentice, Ross ;

Anderson, Garnet L. ;

Rajkovic, Aleksandar ;

Curb, J. David ;

Ziegler, Regina G. ;

Berg, Christine D. ;

Buys, Saundra S. ;

McCarty, Catherine A. ;

Feigelson, Heather Spencer ;

Calle, Eugenia E. ;

Thun, Michael J. ;

Diver, W. Ryan ;

Bojesen, Stig ;

Nordestgaard, Borge G. ;

Flyger, Henrik ;

Doerk, Thilo ;

Schuermann, Peter ;

Hillemanns, Peter ;

Karstens, Johann H. ;

Bogdanova, Natalia V. ;

Antonenkova, Natalia N. ;

Zalutsky, Iosif V. ;

Bermisheva, Marina ;

Fedorova, Sardana ;

Khusnutdinova, Elza ;

Kang, Daehee ;

Yoo, Keun-Young ;

Noh, Dong Young ;

Ahn, Sei-Hyun ;

Devilee, Peter ;

van Asperen, Christi J. .

NATURE GENETICS, 2009, 41 (05) :585-590

[2]

Antoniou AC, 2010, NAT GENET

[3] FGFR2 and other loci identified in genome-wide association studies are associated with breast cancer in African-American and younger women [J].

Barnholtz-Sloan, Jill S. ;

Shetty, Priya B. ;

Guan, Xiaowei ;

Nyante, Sarah J. ;

Luo, Jingchun ;

Brennan, Donal J. ;

Millikan, Robert C. .

CARCINOGENESIS, 2010, 31 (08) :1417-1423

[4] Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium [J].

Cai, Qiuyin ;

Long, Jirong ;

Lu, Wei ;

Qu, Shimian ;

Wen, Wanqing ;

Kang, Daehee ;

Lee, Ji-Young ;

Chen, Kexin ;

Shen, Hongbing ;

Shen, Chen-Yang ;

Sung, Hyuna ;

Matsuo, Keitaro ;

Haiman, Christopher A. ;

Khoo, Ui Soon ;

Ren, Zefang ;

Iwasaki, Motoki ;

Gu, Kai ;

Xiang, Yong-Bing ;

Choi, Ji-Yeob ;

Park, Sue K. ;

Zhang, Lina ;

Hu, Zhibin ;

Wu, Pei-Ei ;

Noh, Dong-Young ;

Tajima, Kazuo ;

Henderson, Brian E. ;

Chan, Kelvin Y. K. ;

Su, Fengxi ;

Kasuga, Yoshio ;

Wang, Wenjing ;

Cheng, Jia-Rong ;

Yoo, Keun-Young ;

Lee, Jong-Young ;

Zheng, Hong ;

Liu, Yao ;

Shieh, Ya-Lan ;

Kim, Sung-Won ;

Lee, Jong Won ;

Iwata, Hiroji ;

Le Marchand, Loic ;

Chan, Sum Yin ;

Xie, Xiaoming ;

Tsugane, Shoichiro ;

Lee, Min Hyuk ;

Wang, Shenming ;

Li, Guoliang ;

Levy, Shawn ;

Huang, Bo ;

Shi, Jiajun ;

Delahanty, Ryan .

HUMAN MOLECULAR GENETICS, 2011, 20 (24) :4991-4999

[5] Fine-mapping of breast cancer susceptibility loci characterizes genetic risk in African Americans [J].

Chen, Fang ;

Chen, Gary K. ;

Millikan, Robert C. ;

John, Esther M. ;

Ambrosone, Christine B. ;

Bernstein, Leslie ;

Zheng, Wei ;

Hu, Jennifer J. ;

Ziegler, Regina G. ;

Deming, Sandra L. ;

Bandera, Elisa V. ;

Nyante, Sarah ;

Palmer, Julie R. ;

Rebbeck, Timothy R. ;

Ingles, Sue A. ;

Press, Michael F. ;

Rodriguez-Gil, Jorge L. ;

Chanock, Stephen J. ;

Le Marchand, Loic ;

Kolonel, Laurence N. ;

Henderson, Brian E. ;

Stram, Daniel O. ;

Haiman, Christopher A. .

HUMAN MOLECULAR GENETICS, 2011, 20 (22) :4491-4503

[6] A common coding variant in CASP8 is associated with breast cancer risk [J].

Cox, Angela ;

Dunning, Alison M. ;

Garcia-Closas, Montserrat ;

Balasubramanian, Sabapathy ;

Reed, Malcolm W. R. ;

Pooley, Karen A. ;

Scollen, Serena ;

Baynes, Caroline ;

Ponder, Bruce A. J. ;

Chanock, Stephen ;

Lissowska, Jolanta ;

Brinton, Louise ;

Peplonska, Beata ;

Southey, Melissa C. ;

Hopper, John L. ;

McCredie, Margaret R. E. ;

Giles, Graham G. ;

Fletcher, Olivia ;

Johnson, Nichola ;

dos Santos Silva, Isabel ;

Gibson, Lorna ;

Bojesen, Stig E. ;

Nordestgaard, Borge G. ;

Axelsson, Christen K. ;

Torres, Diana ;

Hamann, Ute ;

Justenhoven, Christina ;

Brauch, Hiltrud ;

Chang-Claude, Jenny ;

Kropp, Silke ;

Risch, Angela ;

Wang-Gohrke, Shan ;

Schuermann, Peter ;

Bogdanova, Natalia ;

Doerk, Thilo ;

Fagerholm, Rainer ;

Aaltonen, Kirsimari ;

Blomqvist, Carl ;

Nevanlinna, Heli ;

Seal, Sheila ;

Renwick, Anthony ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Sangrajrang, Suleeporn ;

Hughes, David ;

Odefrey, Fabrice ;

Brennan, Paul ;

Spurdle, Amanda B. ;

Chenevix-Trench, Georgia ;

Beesley, Jonathan .

NATURE GENETICS, 2007, 39 (03) :352-358

[7] Genome-wide association study identifies novel breast cancer susceptibility loci [J].

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 ;

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, Borge 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 .

NATURE, 2007, 447 (7148) :1087-U7

[8] An Admixture Scan in 1,484 African American Women with Breast Cancer [J].

Fejerman, Laura ;

Haiman, Christopher A. ;

Reich, David ;

Tandon, Arti ;

Deo, Rahul C. ;

John, Esther M. ;

Ingles, Sue A. ;

Ambrosone, Christine B. ;

Bovbjerg, Dana Howard ;

Jandorf, Lina H. ;

Davis, Warren ;

Ciupak, Gregory ;

Whittemore, Alice S. ;

Press, Michael F. ;

Ursin, Giske ;

Bernstein, Leslie ;

Huntsman, Scott ;

Henderson, Brian E. ;

Ziv, Elad ;

Freedman, Matthew L. .

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2009, 18 (11) :3110-3117

[9] Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study [J].

Fletcher, Olivia ;

Johnson, Nichola ;

Orr, Nick ;

Hosking, Fay J. ;

Gibson, Lorna J. ;

Walker, Kate ;

Zelenika, Diana ;

Gut, Ivo ;

Heath, Simon ;

Palles, Claire ;

Coupland, Ben ;

Broderick, Peter ;

Schoemaker, Minouk ;

Jones, Michael ;

Williamson, Jill ;

Chilcott-Burns, Sarah ;

Tomczyk, Katarzyna ;

Simpson, Gemma ;

Jacobs, Kevin B. ;

Chanock, Stephen J. ;

Hunter, David J. ;

Tomlinson, Ian P. ;

Swerdlow, Anthony ;

Ashworth, Alan ;

Ross, Gillian ;

Silva, Isabel dos Santos ;

Lathrop, Mark ;

Houlston, Richard S. ;

Peto, Julian .

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2011, 103 (05) :425-435

[10] Genome-wide association analysis identifies three new breast cancer susceptibility loci [J].

Ghoussaini, Maya ;

Fletcher, Olivia ;

Michailidou, Kyriaki ;

Turnbull, Clare ;

Schmidt, Marjanka K. ;

Dicks, Ed ;

Dennis, Joe ;

Wang, Qin ;

Humphreys, Manjeet K. ;

Luccarini, Craig ;

Baynes, Caroline ;

Conroy, Don ;

Maranian, Melanie ;

Ahmed, Shahana ;

Driver, Kristy ;

Johnson, Nichola ;

Orr, Nicholas ;

Silva, Isabel dos Santos ;

Waisfisz, Quinten ;

Meijers-Heijboer, Hanne ;

Uitterlinden, Andre G. ;

Rivadeneira, Fernando ;

Hall, Per ;

Czene, Kamila ;

Irwanto, Astrid ;

Liu, Jianjun ;

Nevanlinna, Heli ;

Aittomaki, Kristiina ;

Blomqvist, Carl ;

Meindl, Alfons ;

Schmutzler, Rita K. ;

Mueller-Myhsok, Bertram ;

Lichtner, Peter ;

Chang-Claude, Jenny ;

Hein, Rebecca ;

Nickels, Stefan ;

Flesch-Janys, Dieter ;

Tsimiklis, Helen ;

Makalic, Enes ;

Schmidt, Daniel ;

Bui, Minh ;

Hopper, John L. ;

Apicella, Carmel ;

Park, Daniel J. ;

Southey, Melissa ;

Hunter, David J. ;

Chanock, Stephen J. ;

Broeks, Annegien ;

Verhoef, Senno ;

Hogervorst, Frans B. L. .

NATURE GENETICS, 2012, 44 (03) :312-U120

← 1 2 3 4 →