Citations 8
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Mesman, Romy L.S. , Nicolai, Catharina Von , Ehlén, Åsa , Guidugli, Lucia, Martin, Charlotte , Calléja, Fabienne M.G.R., Hallberg, Emily, Hinton, Jamie, Lilyquist, Jenna , Hu, Chunling , Aalfs, Cora M. , Aittomäki, Kristiina, Andrulis, Irene L. , Beckmann, Matthias W. , Benı́tez, Javier , Bogdanova, Natalia , Bojesen, Stig E. , Bolla, Manjeet K. , Børresen‐Dale, Anne‐Lise , Brauch, Hiltrud , Brennan, Paul , Brenner, Hermann , Brouwers, Barbara , Brüning, Thomas , Burwinkel, Barbara , Chang‐Claude, Jenny , Chenevix‐Trench, Georgia , Cheng, Ching‐Yu , Choi, Ji‐Yeob , Collée, J. Margriet, Darabi, Hatef, Dörk, Thilo , Fasching, Peter A. , Figueroa, Jonine D. , Flyger, Henrik, García‐Closas, Montserrat , Glendon, Gord, Guénel, Pascal , Haiman, Christopher A., Hamann, Ute, Hartman, Mikael , Hogervorst, Frans B.L., Hopper, John L. , Jakubowska, Anna , Kang, Daehee , Kosma, Veli‐Matti , Kristensen, Vessela N. , Lai, Kah-Nyin, Lambrechts, Diether , Li, Jingmei , Lindblom, Annika , Lubiński, Jan , Macháčková, Eva , Mannermaa, Arto, Margolin, Sara , Matsuo, Keitaro , Miao, Hui , Michailidou, Kyriaki , Muir, Kenneth , Olswold, Curtis, Oosterwijk, Jan J.C., Osório, Ana , Peterlongo, Paolo , Peto, Julian , Pylkäs, Katri , Radice, Paolo , Rashid, Muhammad Usman , Rhenius, Valerie , Sangrajrang, Suleeporn , Sawyer, Elinor J. , Schmidt, Marjanka K. , Schoemaker, Minouk J. , Seynaeve, Caroline, Shah, Mitul , Shrubsole, Martha J. , Slager, Susan, Southey, Melissa C. , Swerdlow, Anthony J. , Teo, Soo‐Hwang , Tomlinson, Ian , Torres, Diana , Truong, Thérèse , Kolk, Lizet E. van der, Wang, Qin, Winqvist, Robert , Wu, Anna H. , Yu, Jyh‐Cherng , Zheng, Wei , Zheng, Ying , Leary, Jennifer, Walker, Logan C. , Foretová, Lenka , Claes, Kathleen , Varesco, Liliana , Moghadasi, Setareh , Easton, Douglas F. , Devilee, Peter , Vrieling, Harry , Monteiro, Álvaro N.A. , Goldgar, David E., Carreira, Aura , Vreeswijk, Maaike P.G. , Bowtell, David D.L. , Lambrechts, Diether , Shimelis, Hermela , Meeks, Huong , Anton‐Culver, Hoda , Arndt, Volker , Broeks, Annegien , Cox, Angela , Cross, Simon S. , Czene, Kamila , Dennis, Joe , dos‐Santos‐Silva, Isabel , Dunning, Alison M. , Giles, Graham G. , Hall, Per N , Hollestelle, Antoinette , Ito, Hidemi , Marchand, Loı̈c Le , Lophatananon, Artitaya , Mannermaa, Arto, Marmé, Frederik , Milne, Roger L. , Neuhausen, Susan L. , Nevanlinna, Heli , Olson, Janet E. , Pharoah, Paul D.P. , Rudolph, Anja , Shen, Chen‐Yang , Shu, Xiao‐Ou , Stram, Daniel O. , Asperen, Christi J. van , Wang, Qin, Fostira, Florentia , Spurdle, Amanda B. , Goldgar, David E., Couch, Fergus J. , Dörk, Thilo , Lambrechts, Diether , Peterlongo, Paolo , Teo, Soo H , Shrubsole, Martha J , Monteiro, Alvaro N , Swerdlow, Anthony J , Vreeswijk, Maaike P G , Radice, Paolo , Claes, Kathleen B M , Southey, Melissa C , Muir, Kenneth , Matsuo, Keitaro , Jakubowska, Anna , Lambrechts, Diether , Brenner, Hermann , Guénel, Pascal , Hartman, Mikael , Li, Jingmei , Torres, Diana , García-Closas, Montserrat , Schmidt, Marjanka K , Hu, Chunling , Michailidou, Kyriaki , Bogdanova, Natalia V , Benitez, Javier , Chenevix-Trench, Georgia , Zheng, Wei , Figueroa, Jonine D , Bowtell, David D , Pylkäs, Katri , Rashid, Muhammad U , Devilee, Peter , Lubinski, Jan , Bojesen, Stig E , Schoemaker, Minouk J , Truong, Therese , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Kang, Daehee
Cancer Research | March 10, 2017 | Volume: 77 | Issue: 11 | Pages: 2789-2799
Abstract Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk were investigated through a breast cancer case–control study using genotyping data from 38 studies of predominantly European ancestry (41,890 cases and 41,607 controls) and nine studies of Asian ancestry (6,269 cases and 6,624 controls). The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; P = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; P = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; P = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; P = 0.004) were associated with moderate and low risks of breast cancer among Asians. Functional characterization of the BRCA2 variants using four quantitative assays showed reduced BRCA2 activity for p.Tyr3035Ser compared with wild-type. Overall, our results show how BRCA2 missense variants that influence protein function can confer clinically relevant, moderately increased risks of breast cancer, with potential implications for risk management guidelines in women with these specific variants. Cancer Res; 77(11); 2789–99. ©2017 AACR.
Fine‐scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer
Shi, Jiajun , Zhang, Yanfeng , Zheng, Wei , Michailidou, Kyriaki , Ghoussaini, Maya , Bolla, Manjeet K. , Wang, Qin, Beesley, Jonathan, Kar, Siddhartha , Andrulis, Irene L. , Beckmann, Matthias W. , Zhao, Zhiguo , Benı́tez, Javier , Beeghly‐Fadiel, Alicia, Blot, William J. , Bogdanova, Natalia , Bojesen, Stig E. , Brauch, Hiltrud , Brenner, Hermann , Brinton, Louise A. , Brüning, Thomas , Burwinkel, Barbara , Cai, Hui , Canisius, Sander , Chang‐Claude, Jenny , Choi, Ji‐Yeob , Couch, Fergus J. , Darabi, Hatef, Devilee, Peter , Droit, Arnaud , Dörk, Thilo , Fasching, Peter A. , Fletcher, Olivia , Flyger, Henrik, Fostira, Florentia, Gaborieau, Valérie , García‐Closas, Montserrat , Giles, Graham G. , Grip, Mervi, Guénel, Pascal , Haiman, Christopher A., Hamann, Ute, Hartman, Mikael , Miao, Hui , Hopper, John L. , Hsiung, Chia‐Ni , Investigators, kConFab, Jakubowska, Anna , Johnson, Nichola , Torres, Diana , Kabisch, Maria, Kang, Daehee , Khan, Sofia , Knight, Julia A. , Kosma, Veli‐Matti, Lambrechts, Diether , Li, Jingmei , Lindblom, Annika , Lubiński, Jan , Mannermaa, Arto, Manoukian, Siranoush , Margolin, Sara , Matsuo, Keitaro , McLean, Catriona , Meindl, Alfons, Børresen‐Dale, Anne‐Lise , Orr, Nick , Ouweland, Ans M.W. van den, Peterlongo, Paolo , Putti, Thomas Choudary , Sangrajrang, Suleeporn , Sawyer, Elinor J. , Schmidt, Marjanka K. , Schmutzler, Rita K., Shen, Chen‐Yang , Hou, Ming‐Feng , Shrubsole, Matha J., Southey, Melissa C. , Swerdlow, Anthony J. , Teo, Soo‐Hwang , Thienpont, Bernard , Tollenaar, Robert A.E.M., Tomlinson, Ian , Truong, Thérèse , Tseng, Chiu-Chen , Wen, Wanqing , Winqvist, Robert , Wu, Anna H. , Yip, Cheng Har , Zheng, Ying , Floris, Giuseppe , Cheng, Ching‐Yu , Hooning, Maartje J. , Seynaeve, Caroline, Kristensen, Vessela N., Simard, Jacques , Chenevix‐Trench, Georgia , Dunning, Alison M. , Antoniou, Antonis C. , Easton, Douglas F. , Long, Jirong , Durocher, Francine , Thorne, Heather , Shrubsole, Martha J. , Lambrechts, Diether , Wang, Qin, Dennis, Joe , Lush, Michael J. , Milne, Roger L. , Shu, Xiao‐Ou , Anton‐Culver, Hoda , Arndt, Volker , Guo, Xingyi , Beeghly‐Fadiel, Alicia , Broeks, Annegien , Couch, Fergus J. , Cox, Angela , Cross, Simon S. , Czene, Kamila , Hollestelle, Antoinette , Investigators, kConFab, Ito, Hidemi , Lophatananon, Artitaya , Mannermaa, Arto , Marchand, Loı̈c Le , Marmé, Frederik , Meindl, Alfons, Muir, Kenneth , Neuhausen, Susan L. , Nevanlinna, Heli , Nord, Silje , Olson, Janet E. , Rudolph, Anja , Toland, Amanda Ewart , Zamora, Pilar M. , Hooning, Maartje J. , Martens, John W.M. , Kristensen, Vessela N. , Hall, Per N , Pharoah, Paul D.P. , Cai, Qiuyin , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Peterlongo, Paolo , Teo, Soo H , Shrubsole, Martha J , Swerdlow, Anthony J , Southey, Melissa C , Matsuo, Keitaro , Dunning, Alison M , Jakubowska, Anna , Lambrechts, Diether , Brenner, Hermann , Guénel, Pascal , Hartman, Mikael , Li, Jingmei , Torres, Diana , García-Closas, Montserrat , Schmidt, Marjanka K , Michailidou, Kyriaki , Bogdanova, Natalia V , Benitez, Javier , Simard, Jacques , Chenevix-Trench, Georgia , Zheng, Wei , Kar, Siddhartha , Devilee, Peter , Manoukian, Siranoush , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Truong, Therese , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Orr, Nick , Kang, Daehee , Droit, Arnaud
International Journal of Cancer | April 18, 2016 | Volume: 139 | Issue: 6 | Pages: 1303-1317
Previous genome‐wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. A fine‐mapping study across 2.06 Mb (chr8:127,561,724–129,624,067, hg19) in 55,540 breast cancer cases and 51,168 controls within the Breast Cancer Association Consortium was conducted. Three additional independent association signals in women of European ancestry, represented by rs35961416 (OR = 0.95, 95% CI = 0.93–0.97, conditional p = 5.8 × 10−6), rs7815245 (OR = 0.94, 95% CI = 0.91–0.96, conditional p = 1.1 × 10−6) and rs2033101 (OR = 1.05, 95% CI = 1.02–1.07, conditional p = 1.1 × 10−4) were found. Integrative analysis using functional genomic data from the Roadmap Epigenomics, the Encyclopedia of DNA Elements project, the Cancer Genome Atlas and other public resources implied that SNPs rs7815245 in Signal 3, and rs1121948 in Signal 5 (in linkage disequilibrium with rs11780156, r2 = 0.77), were putatively functional variants for two of the five independent association signals. The results highlighted multiple 8q24 variants associated with breast cancer susceptibility in women of European ancestry.
SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival
Jamshidi, Maral, Investigators, kConFab, Fagerholm, Rainer, Khan, Sofia , Aittomäki, Kristiina , Darabi, Hatef, Li, Jingmei , Andrulis, Irene L. , Chang‐Claude, Jenny, Devilee, Peter , Fasching, Peter A. , Michailidou, Kyriaki , Bolla, Manjeet K. , Wang, Qin, Guo, Qi , Rhenius, Valerie , Cornelissen, Sten , Knight, Julia A. , Loehberg, Christian R. , Burwinkel, Barbara , Hopper, John L. , Southey, Melissa C. , Bojesen, Stig E. , Flyger, Henrik, Brenner, Hermann , Holleczek, Bernd , Margolin, Sara , Mannermaa, Arto, Kosma, Veli‐Matti, Dyck, Laurien Van , Nevelsteen, Ines, Giles, Graham G. , McLean, Catriona , Haiman, Christopher A., Henderson, Brian E., Winqvist, Robert , Pylkäs, Katri , Tollenaar, Rob A.�E.�M. , García‐Closas, Montserrat , Figueroa, Jonine D. , Hooning, Maartje J. , Cox, Angela , Cross, Simon S. , Simard, Jacques , Dunning, Alison M. , Easton, Douglas F. , Blomqvist, Carl , Schmidt, Marjanka K. , Durocher, Francine , Thorne, Heather , Investigators, kConFab, Czene, Kamila , Dennis, Joe , Wang, Qin, Rudolph, Anja , Marmé, Frederik , Mannermaa, Arto, Couch, Fergus J. , Olson, Janet E. , Hooning, Maartje J. , Martens, John W.M. , Pharoah, Paul D.P. , Hall, Per N , Nevanlinna, Heli , Giles, Graham G , Southey, Melissa C , Dunning, Alison M , Brenner, Hermann , Cox, Angela , Li, Jingmei , García-Closas, Montserrat , Schmidt, Marjanka K , Michailidou, Kyriaki , Simard, Jacques , Figueroa, Jonine D , Pylkäs, Katri , Devilee, Peter , Bojesen, Stig E , Mclean, Catriona
Oncotarget | September 29, 2015 | Volume: 6 | Issue: 35 | Pages: 37979-37994
Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk
Long, Jirong , Zeng, Chenjie , Michailidou, Kyriaki , Ghoussaini, Maya , Bolla, Manjeet K. , Wang, Qin, Shu, Xiao-Ou, Beesley, Jonathan, Kar, Siddhartha , Andrulis, Irene L. , Beckmann, Matthias W. , Beeghly‐Fadiel, Alicia, Benı́tez, Javier , Blot, William J. , Bogdanova, Natalia , Bojesen, Stig E. , Brauch, Hiltrud , Brenner, Hermann , Brinton, Louise A. , Brüning, Thomas , Burwinkel, Barbara , Cai, Hui , Canisius, Sander , Chang‐Claude, Jenny , Choi, Ji‐Yeob , Couch, Fergus J. , Cox, Angela , Cross, Simon S. , Darabi, Hatef, Devilee, Peter , Droit, Arnaud , Dörk, Thilo , Fasching, Peter A. , Fletcher, Olivia , Flyger, Henrik, Fostira, Florentia, Gaborieau, Valérie , García‐Closas, Montserrat , Giles, Graham G. , Grip, Mervi, Guénel, Pascal , Haiman, Christopher A., Hamann, Ute , Hartman, Mikael , Hollestelle, Antoinette , Hopper, John L. , Hsiung, Chia-Ni, Jakubowska, Anna , Johnson, Nichola , Kabisch, Maria, Kang, Daehee , Khan, Sofia , Knight, Julia A. , Kosma, Veli-Matti, Lambrechts, Diether , Li, Jingmei , Lindblom, Annika , Lubiński, Jan , Mannermaa, Arto, Manoukian, Siranoush , Margolin, Sara , Matsuo, Keitaro , McLean, Catriona , Meindl, Alfons , Muir, Kenneth , Orr, Nick , Peterlongo, Paolo , Putti, Thomas Choudary , Sangrajrang, Suleeporn , Sawyer, Elinor J. , Schmidt, Marjanka K. , Schmutzler, Rita K., Shrubsole, Martha J. , Southey, Melissa C. , Swerdlow, Anthony J. , Teo, Soo‐Hwang , Thienpont, Bernard , Tollenaar, Robert A.E.M., Tomlinson, Ian , Truong, Thérèse , Tseng, Chiu-Chen, Ouweland, Ans van den, Wen, Wanqing , Winqvist, Robert , Wu, Anna H. , Yip, Cheng Har , Zamora, M. Pilar , Zheng, Ying , Simard, Jacques , Chenevix‐Trench, Georgia , Investigators, on behalf of kConFab, Dunning, Alison M. , Easton, Douglas F. , Zheng, Wei , Wang, Sophia , Radice, Paolo , Webb, Penelope M. , Whiteman, David C. , Pepłońska, Beata , Durocher, Francine , Heikkinen, Tuomas , Balasubramanian, Sabapathy P. , DeFazio, Anna , Peissel, Bernard , Zaffaroni, Daniela , Hillemanns, Peter , Kerin, Michael J. , Pylkäs, Katri , Thorne, Heather , Cai, Hui , Laurent‐Puig, Pierre , Lambrechts, Diether , Taib, Nur Aishah Mohd , Colleran, Gabrielle , Fazio, Anna de , Guo, Xingyi , Wang, Qin, Milne, Roger L. , Cai, Qiuyin , Anton‐Culver, Hoda , Arndt, Volker , Beeghly‐Fadiel, Alicia , Broeks, Annegien , Couch, Fergus J. , Czene, Kamila , Ito, Hidemi , Marchand, Loı̈c Le , Lophatananon, Artitaya , Mannermaa, Arto, Marmé, Frederik , Meindl, Alfons , Neuhausen, Susan L. , Nevanlinna, Heli , Nord, Silje , Olson, Janet E. , Rudolph, Anja , Shen, Chen‐Yang , Shi, Jiajun , Toland, Amanda Ewart , Hall, Per N , Pharoah, Paul D.P. , Investigators, on behalf of kConFab, Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Peterlongo, Paolo , Teo, Soo H , Webb, Penelope M , Hillemanns, Peter , Shrubsole, Martha J , Swerdlow, Anthony J , Radice, Paolo , Southey, Melissa C , Muir, Kenneth , Matsuo, Keitaro , Dunning, Alison M , Jakubowska, Anna , Lambrechts, Diether , Brenner, Hermann , Cox, Angela , Guénel, Pascal , Hartman, Mikael , Li, Jingmei , García-Closas, Montserrat , Schmidt, Marjanka K , Michailidou, Kyriaki , Bogdanova, Natalia V , Benitez, Javier , Simard, Jacques , Chenevix-Trench, Georgia , Zheng, Wei , Wang, Sophia S , Whiteman, David C , Kar, Siddhartha , Pylkäs, Katri , Laurent-Puig, Pierre , Devilee, Peter , Manoukian, Siranoush , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Truong, Therese , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Mohd Taib, Nur Aishah , Sawyer, Elinor J , Orr, Nick , Kang, Daehee , Droit, Arnaud
Cancer Epidemiology, Biomarkers & Prevention | September 10, 2015 | Volume: 24 | Issue: 11 | Pages: 1680-1691
Abstract Background: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. Methods: We conducted a fine-mapping analysis in 55,540 breast cancer cases and 51,168 controls from the Breast Cancer Association Consortium. Results: Conditional analyses identified two independent association signals among women of European ancestry, represented by rs9790517 [conditional P = 2.51 × 10−4; OR, 1.04; 95% confidence interval (CI), 1.02–1.07] and rs77928427 (P = 1.86 × 10−4; OR, 1.04; 95% CI, 1.02–1.07). Functional annotation using data from the Encyclopedia of DNA Elements (ENCODE) project revealed two putative functional variants, rs62331150 and rs73838678 in linkage disequilibrium (LD) with rs9790517 (r2 ≥ 0.90) residing in the active promoter or enhancer, respectively, of the nearest gene, TET2. Both variants are located in DNase I hypersensitivity and transcription factor–binding sites. Using data from both The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), we showed that rs62331150 was associated with level of expression of TET2 in breast normal and tumor tissue. Conclusion: Our study identified two independent association signals at 4q24 in relation to breast cancer risk and suggested that observed association in this locus may be mediated through the regulation of TET2. Impact: Fine-mapping study with large sample size warranted for identification of independent loci for breast cancer risk. Cancer Epidemiol Biomarkers Prev; 24(11); 1680–91. ©2015 AACR.
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk
Lin, Wei‐Yu , Camp, Nicola J. , Ghoussaini, Maya , Beesley, Jonathan, Michailidou, Kyriaki , Hopper, John L. , Apicella, Carmel, Southey, Melissa C. , Stone, Jennifer , Schmidt, Marjanka K. , Veer, Laura J. van’t , Muir, Kenneth , Lophatananon, Artitaya, Stewart‐Brown, Sarah , Siriwanarangsan, Pornthep, Fasching, Peter A. , Haeberle, Lothar, Ekici, Arif B. , Beckmann, Matthias W. , Peto, Julian, dos‐Santos‐Silva, Isabel , Fletcher, Olivia , Johnson, Nichola , Bolla, Manjeet K. , Wang, Qin, Sawyer, Elinor J. , Cheng, Timothy, Tomlinson, Ian , Kerin, Michael J. , Miller, Nicola, Surowy, Harald , Burwinkel, Barbara , Guénel, Pascal , Truong, Thérèse , Ménégaux, F. , Mulot, Claire , Bojesen, Stig E. , Nordestgaard, Børge G. , Nielsen, Sune F. , Flyger, Henrik, Benı́tez, Javier , Zamora, M. Pilar , Pérez, José Ignacio Arias , Menéndez, Primitiva, González‐Neira, Anna , Pita, Guillermo , Alonso, M. Rosario, Álvarez, Núria, Herrero, Daniel, Brenner, Hermann , Dieffenbach, Aida Karina, Stegmaier, Christa, Meindl, Alfons , Lichtner, Peter , Schmutzler, Rita K., Müller‐Myhsok, Bertram , Brauch, Hiltrud , Brüning, Thomas , Ko, Yon‐Dschun, Network, The GENICA, Tessier, Daniel C., Vincent, Daniel , Bacot, François, Nevanlinna, Heli , Aittomäki, Kristiina, Blomqvist, Carl , Khan, Sofia , Matsuo, Keitaro , Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia , Antonenkova, Natalia, Dörk, Thilo , Lindblom, Annika , Margolin, Sara , Mannermaa, Arto, Kataja, Vesa , Kosma, Veli‐Matti, Hartikainen, Jaana M. , Investigators, kConFab, Group, Australian Ovarian Cancer Study, Wu, Anna H. , Tseng, Chiu-Chen , Neven, Patrick , Wauters, Els , Wildiers, Hans , Lambrechts, Diether , Chang‐Claude, Jenny , Flesch‐Janys, Dieter, Radice, Paolo , Peterlongo, Paolo , Manoukian, Siranoush , Couch, Fergus J. , Vachon, Celine M. , Purrington, Kristen S. , Giles, Graham G. , McLean, Catriona , Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick R. , Simard, Jacques , Goldberg, Mark S. , Dumont, Martine , Teo, Soo‐Hwang , Yip, Cheng Har , Vithana, Eranga N. , Kristensen, Vessela N. , Deming-Halverson, Sandra, Shrubsole, Martha J. , Long, Jirong , Winqvist, Robert , Pylkäs, Katri , Jukkola‐Vuorinen, Arja , Kauppila, Saila , Andrulis, Irene L. , Knight, Julia A. , Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter , Tollenaar, Robert A.E.M., Seynaeve, Caroline, García‐Closas, Montserrat , Figueroa, Jonine D. , Lissowska, Jolanta , Brinton, Louise A. , Czene, Kamila , Darabi, Hatef, Eriksson, Mikael , Brand, Judith S. , Hooning, Maartje J. , Hollestelle, Antoinette , Ouweland, Ans M.W. van den, Jager, Agnes , Li, Jingmei , Liu, Jianjun , Humphreys, Keith , Shu, Xiao‐Ou , Lu, Wei , Gao, Yu‐Tang , Cai, Hui , Cross, Simon S. , Reed, Malcolm , Blot, William J. , Signorello, Lisa B., Cai, Qiuyin, Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee , Yoo, Keun-Young, Noh, Dong‐Young , Hartman, Mikael , Miao, Hui , Chia, Kee Seng , Putti, Thomas Choudary , Hamann, Ute , Luccarini, Craig , Baynes, Caroline, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna , Lubiński, Jan , Jaworska–Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn , Gaborieau, Valérie , Brennan, Paul , McKay, James , Slager, Susan, Yannoukakos, Drakoulis , Hsiung, Chia‐Ni , Wu, Pei‐Ei , Ding, Shian-ling, Ashworth, Alan , Jones, Michael E. , Orr, Nick , Swerdlow, Anthony J. , Makalic, Enes , Bui, Minh , Hunter, David J. , Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars , Aaltonen, Kirsimari, Muranen, Taru , Heikkinen, Tuomas , Irwanto, Astrid , Rahman, Nazneen , Turnbull, Clare , Study, The Breast and Ovarian Cancer Susceptibility (BOCS), Waisfisz, Quinten , Meijers‐Heijboer, Hanne , Adank, Muriel A. , Luijt, Rob B. van der , Chenevix‐Trench, Georgia , Dunning, Alison M. , Easton, Douglas F. , Cox, Angela , Durocher, Francine , Zheng, Wei , Thorne, Heather , Lambrechts, Diether , Vachon, Celine, Broeks, Annegien , Rutgers, Emiel J. , Wang, Qin, Dennis, Joe , Marmé, Frederik , Anton‐Culver, Hoda , Arndt, Volker , Meindl, Alfons , Network, The GENICA, Ito, Hidemi , Iwata, Hiroji , Mannermaa, Arto , Investigators, kConFab, Group, Australian Ovarian Cancer Study, Berg, David Van Den , Stram, Daniel O. , Rudolph, Anja , Seibold, Petra , Bonanni, Bernardo , Couch, Fergus J. , Wang, Xianshu , Vachon, Celine M. , Milne, Roger L. , Marchand, Loı̈c Le , Labrèche, France , Rudolph, Anja , Zheng, Wei , Asperen, Christi J. van , Eriksson, Mikael , Hooning, Maartje J. , Pharoah, Paul D.P. , Ahmed, Shahana , Toland, Amanda Ewart , Shen, Chen‐Yang , Tsimiklis, Helen , Schmidt, Daniel Frederick , Bui, Minh , Chanock, Stephen Jacob , Study, The Breast and Ovarian Cancer Susceptibility (BOCS), Hall, Per N , Nevanlinna, H , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Peterlongo, Paolo , Teo, Soo H , Shrubsole, Martha J , Swerdlow, Anthony J , Radice, Paolo , Lissowska, Jolanta , Southey, Melissa C , van der Luijt, Rob B , Muir, Kenneth , Shu, Xiao-Ou , Matsuo, Keitaro , Dunning, Alison M , Jakubowska, Anna , Jones, Michael E , Lambrechts, Diether , Brenner, Hermann , Cox, Angela , Guénel, Pascal , Hartman, Mikael , Li, Jingmei , Muranen, Taru A , García-Closas, Montserrat , Schmidt, Marjanka K , Makalic, Enes , Ekici, Arif B , Michailidou, Kyriaki , Hartikainen, Jaana M , Bogdanova, Natalia V , Benitez, Javier , Simard, Jacques , Chenevix-Trench, Georgia , Zheng, Wei , Figueroa, Jonine D , Czene, Kamila , Stone, Jennifer , Pylkäs, Katri , Yannoukakos, Drakoulis , Devilee, Peter , Manoukian, Siranoush , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Purrington, Kristen S , Truong, Therese , Wildiers, Hans , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Orr, Nick , Liu, Jing , Kang, Daehee
Human Molecular Genetics | August 29, 2014 | Volume: 24 | Issue: 1 | Pages: 285-298
The role of genetic breast cancer susceptibility variants as prognostic factors
Fasching, Peter A. , Cox, Angela , Nevanlinna, Heli , Bojesen, Stig E. , Karn, Thomas , Leeuwen, Flora E. van , Veer, Laura van ‘t , Udo, Renate, Dunning, Alison M. , Greco, Dario , Aittomäki, Kristiina, Blomqvist, Carl , Shah, Mitul , Nordestgaard, Børge G. , Flyger, Henrik, Hopper, John L. , Southey, Melissa C. , Apicella, Carmel, García‐Closas, Montserrat , Sherman, Mark E., Lissowska, Jolanta , Seynaeve, Caroline, Huijts, Petra E.A., Tollenaar, Rob A.�E.�M. , Ekici, Arif B. , Rauh, Claudia , Mannermaa, Arto, Kataja, Vesa , Kosma, Veli-Matti, Hartikainen, Jaana M. , Andrulis, Irene L. , Özçelik, Hilmi, Mulligan, Anna Marie , Glendon, Gord, Czene, Kamila , Liu, Jianjun , Chang‐Claude, Jenny , Wang‐Gohrke, Shan , Eilber, Ursula, Nickels, Stefan , Dörk, Thilo , Schiekel, Maria, Bremer, Michael , Park‐Simon, Tjoung‐Won, Giles, Graham G. , Severi, Gianluca , Baglietto, Laura , Hooning, Maartje J. , Jager, Agnes , Kriege, Mieke, Lindblom, Annika , Margolin, Sara , Stevens, Kristen N., Kosel, Matthew , Cross, Simon S. , Balasubramanian, Sabapathy P. , Reed, Malcolm , Miron, Alexander, John, Esther M. , Winqvist, Robert , Pylkäs, Katri , Jukkola‐Vuorinen, Arja , Kauppila, Saila , Burwinkel, Barbara , Schneeweiß, Andreas , Sohn, Christof , Chenevix‐Trench, Georgia , Investigators, kConFab, Lambrechts, Diether , Dieudonné, Anne-Sophie, Hatse, Sigrid , Limbergen, Erik Van, Zamora, M. Pilar , Peissel, Bernard , Loris, Bernard, Peterlongo, Paolo , Rajaraman, Preetha , Beckmann, Matthias W. , Slamon, Dennis J. , Phillips, Kelly‐Anne , Humphreys, Manjeet K., Easton, Douglas F. , Schmidt, Marjanka K. , Thorne, Heather , Purrington, Kristen S. , Lambrechts, Diether , Pharoah, Paul D.P. , Broeks, Annegien , Veer, Laura J. van’t , Ziogas, Argyrios , Mannermaa, Arto, Hall, Per N , Martens, John W.M. , Couch, Fergus J. , Olson, Janet E. , Marmé, Frederik , Investigators, kConFab, Benı́tez, Javier , Milne, Roger L. , Pérez, José Ignacio Arias , Bonanni, Bernardo , Schonfeld, Sara J. , Anton‐Culver, Hoda , Devilee, Peter , Figueroa, Jonine D. , Nevanlinna, H , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Peterlongo, Paolo , Lissowska, Jolanta , John, Esther M , Southey, Melissa C , Dunning, Alison M , Lambrechts, Diether , Cox, Angela , García-Closas, Montserrat , Schmidt, Marjanka K , Severi, Gianluca , Ekici, Arif B , Hartikainen, Jaana M , Chenevix-Trench, Georgia , Czene, Kamila , Pylkäs, Katri , Baglietto, Laura , Bojesen, Stig E , Purrington, Kristen S , Phillips, Kelly-Anne , Lindblom, Annika , Liu, Jing
Human Molecular Genetics | April 25, 2012 | Volume: 21 | Issue: 17 | Pages: 3926-3939
Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer
Goode, Ellen L. , García‐Closas, Montserrat , Severi, Gianluca , Hein, Rebecca, Fredericksen, Zachary, Malats, Núria , Zamora, M. Pilar , Dörk, Thilo , Schürmann, Peter , Karstens, Johann H., Hillemanns, Peter , Cox, Angela , Brock, Ian W., Elliot, Graeme, Cross, Simon S. , Seal, Sheila, Turnbull, Clare , Renwick, Anthony, Rahman, Nazneen , Shen, Chen‐Yang , Yu, Jyh‐Cherng , Huang, Chiun‐Sheng , Hou, Ming‐Feng , Nordestgaard, Børge G. , Bojesen, Stig E. , Lanng, Charlotte, Alnæs, Grethe Grenaker, Kristensen, Vessela N. , Børrensen-Dale, Anne-Lise, Hopper, John L. , Dite, Gillian S. , Apicella, Carmel, Southey, Melissa C. , Lambrechts, Diether , Yesilyurt, Betül T., Floris, Giuseppe , Leunen, Karin, Sangrajrang, Suleeporn , Gaborieau, Valérie , McKay, James , Chang‐Claude, Jenny , Wang‐Gohrke, Shan , Radice, Paolo , Peterlongo, Paolo , Manoukian, Siranoush , Barile, Monica, Giles, Graham G. , Baglietto, Laura , John, Esther M. , Miron, Alexander, Lissowska, Jolanta , Sherman, Mark E., Bogdanova, Natalia , Antonenkova, Natalia, Zalutsky, Iosif V., Rogov, Yuriy , Fasching, Peter A. , Ekici, Arif B. , Beckmann, Matthias W. , Brenner, Hermann , Stegmaier, Christa, Andrulis, Irene L. , Knight, Julia A. , Glendon, Gord, Mulligan, Anna Marie , Mannermaa, Arto, Kataja, Vesa , Kosma, Veli‐Matti , Hartikainen, Jaana M. , Meindl, Alfons , Bartram, Claus R., Schmutzler, Rita K., Thomas, Gilles D., Hoover, Robert N. , Fletcher, Olivia , Gibson, Lorna J., dos‐Santos‐Silva, Isabel , Peto, Julian, Nickels, Stefan , Flesch‐Janys, Dieter, Sawyer, Elinor J. , Tomlinson, Ian , Kerin, Michael J. , Miller, Nicola, Schmidt, Marjanka K. , Veer, Laura van ‘t , Tollenaar, Rob A.�E.�M. , Dunning, Alison M. , Pooley, Karen A. , Schneeweiß, Andreas , Sohn, Christof , Burwinkel, Barbara , Jakubowska, Anna , Lubiński, Jan , Jaworska, Katarzyna, Durda, Katarzyna, Kang, Daehee , Noh, Dong‐Young , Ahn, Sei-Hyun, Hunter, David J. , Hankinson, Susan E. , Lindström, Sara, Chen, Xiaoqing, Beesley, Jonathan, Hamann, Ute, Justenhoven, Christina , Network, for the GENICA, Winqvist, Robert , Pylkäs, Katri , Jukkola‐Vuorinen, Arja , Grip, Mervi, Hooning, Maartje J. , Hollestelle, Antoinette , Oldenburg, Rogier A., Tilanus‐Linthorst, Madeleine M.A., Хуснутдинова, Э. К. , Bermisheva, Marina , Prokofieva, Darya, Farahtdinova, Albina, Humphreys, Manjeet K., Wang, Qin , Chenevix‐Trench, Georgia , Easton, Douglas F. , Lambrechts, Diether , Milne, Roger L. , Couch, Fergus J. , Pérez, José Ignacio Arias , Benı́tez, Javier , Børrensen-Dale, Anne-Lise, Brennan, Paul , Chanock, Stephen Jacob , Figueroa, Jonine D. , Bayer, Christian , Müller, Heiko , Arndt, Volker , Mannermaa, Arto, Meindl, Alfons , Heil, Joerg , Anton‐Culver, Hoda , Ziogas, Argyrios , Broeks, Annegien , Veer, Laura J. van’t , Pharoah, Paul D.P. , Marmé, Frederik , Yoo, Keun-Young , Hankinson, Susan E. , Kraft, Peter , Chen, Xiaoqing, Harth, Volker , Network, for the GENICA, Olson, Janet E. , Wang, Xianshu , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Peterlongo, Paolo , Hillemanns, Peter , Radice, Paolo , Lissowska, Jolanta , John, Esther M , Southey, Melissa C , Malats, Nuria , Dunning, Alison M , Jakubowska, Anna , Lambrechts, Diether , Brenner, Hermann , Cox, Angela , García-Closas, Montserrat , Schmidt, Marjanka K , Severi, Gianluca , Ekici, Arif B , Hartikainen, Jaana M , Bogdanova, Natalia V , Chenevix-Trench, Georgia , Pylkäs, Katri , Manoukian, Siranoush , Lubinski, Jan , Baglietto, Laura , Fletcher, Olivia , Bojesen, Stig E , Huang, Chiun-Sheng , Sawyer, Elinor J , Kang, Daehee
Cancer Epidemiology, Biomarkers & Prevention | October 6, 2011 | Volume: 20 | Issue: 10 | Pages: 2222-2231
Abstract Background: The single-nucleotide polymorphism (SNP) 5p12-rs10941679 has been found to be associated with risk of breast cancer, particularly estrogen receptor (ER)-positive disease. We aimed to further explore this association overall, and by tumor histopathology, in the Breast Cancer Association Consortium. Methods: Data were combined from 37 studies, including 40,972 invasive cases, 1,398 cases of ductal carcinoma in situ (DCIS), and 46,334 controls, all of white European ancestry, as well as 3,007 invasive cases and 2,337 controls of Asian ancestry. Associations overall and by tumor invasiveness and histopathology were assessed using logistic regression. Results: For white Europeans, the per-allele OR associated with 5p12-rs10941679 was 1.11 (95% CI = 1.08–1.14, P = 7 × 10−18) for invasive breast cancer and 1.10 (95% CI = 1.01–1.21, P = 0.03) for DCIS. For Asian women, the estimated OR for invasive disease was similar (OR = 1.07, 95%CI = 0.99–1.15, P = 0.09). Further analyses suggested that the association in white Europeans was largely limited to progesterone receptor (PR)-positive disease (per-allele OR = 1.16, 95% CI = 1.12–1.20, P = 1 × 10−18 vs. OR = 1.03, 95% CI = 0.99–1.07, P = 0.2 for PR-negative disease; Pheterogeneity = 2 × 10−7); heterogeneity by ER status was not observed (P = 0.2) once PR status was accounted for. The association was also stronger for lower grade tumors [per-allele OR (95% CI) = 1.20 (1.14–1.25), 1.13 (1.09–1.16), and 1.04 (0.99–1.08) for grade 1, 2, and 3/4, respectively; Ptrend = 5 × 10−7]. Conclusion: 5p12 is a breast cancer susceptibility locus for PR-positive, lower grade breast cancer. Impact: Multicenter fine-mapping studies of this region are needed as a first step to identifying the causal variant or variants. Cancer Epidemiol Biomarkers Prev; 20(10); 2222–31. ©2011 AACR.
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium
Schmidt, Marjanka K. , Sherman, Mark E., Hopper, John L. , Dite, Gillian S. , Apicella, Carmel, Smith, Letitia, Hammet, Fleur, Southey, Melissa C. , Veer, Laura van ‘t , Smit, Vincent T.H.B.M. , Fasching, Peter A. , Beckmann, Matthias W. , Jud, Sebastian M. , Ekici, Arif B. , Hartmann, Arndt , Hein, Alexander , Schulz-Wendtland, R., Burwinkel, Barbara , Schneeweiß, Andreas , Sinn, Hans‐Peter , Sohn, Christof , Tchatchou, Sandrine, Bojesen, Stig E. , Nordestgaard, Børge G. , Flyger, Henrik, Ørsted, David D., Kaur‐Knudsen, Diljit, Rodríguez, Primitiva Menéndez, Brauch, Hiltrud , Justenhoven, Christina , Ko, Yon‐Dschun, Network, The Genica, Hamann, Ute, Fischer, Hans‐Peter , Brüning, Thomas , Pesch, Beate, Chang‐Claude, Jenny , Wang‐Gohrke, Shan , Bremer, Michael , Karstens, Johann H., Hillemanns, Peter , Dörk, Thilo , Nevanlinna, Heli , Heikkinen, Tuomas , Blomqvist, Carl , Aittomäki, Kristiina, Aaltonen, Kirsimari, Lindblom, Annika , Margolin, Sara , Mannermaa, Arto, Kosma, Veli‐Matti , Kauppinen, Jaana M., Kataja, Vesa , Auvinen, Päivi , Eskelinen, Matti , Soini, Ylermi, Chenevix‐Trench, Georgia , Spurdle, Amanda B. , Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, kConFab, AOCS, Lambrechts, Diether , Claes, Bart, Vandorpe, T., Neven, Patrick , Wildiers, Hans , Flesch‐Janys, Dieter, Hein, Rebecca, Löning, Thomas , Kosel, Matthew , Fredericksen, Zachary S., Giles, Graham G. , Baglietto, Laura , Severi, Gianluca , McLean, Catriona , Haiman, Christopher A., Henderson, Brian E., Kolonel, Laurence N. , Alnæs, Grethe Grenaker, Kristensen, Vessela, Børresen‐Dale, Anne‐Lise , Hunter, David J. , Hankinson, Susan E. , Andrulis, Irene L. , Mulligan, Anna Marie , O’Malley, Frances P., Huijts, Petra E.A., Tollenaar, Rob A.�E.�M. , Seynaeve, Caroline, Lissowska, Jolanta , Brinton, Louise A. , Pepłońska, Beata , Yang, Xiaohong R. , Hooning, Maartje J. , Hollestelle, Antoinette , Oldenburg, Rogier A., Jager, Agnes , Kriege, Mieke, Ozturk, Bahar, Czene, Kamila , Humphreys, Keith , Liu, Jianjun , Cox, Angela , Connley, Daniel, Cramp, Helen, Balasubramanian, Sabapathy P. , Reed, Malcolm , Dunning, Alison M. , Easton, Douglas F., Humphreys, Manjeet K., Caldas, Carlos , Blows, Fiona M., Driver, Kristy, Provenzano, Elena , Lubiński, Jan , Jakubowska, Anna , Huzarski, Tomasz , Byrski, Tomasz , Górski, Bohdan , Brennan, Paul , Sangrajrang, Suleeporn , Gaborieau, Valérie , Shen, Chen‐Yang , Hsiung, Chia‐Ni , Yu, Jyh‐Cherng , Chen, Shou‐Tung , Hsu, Giu‐Cheng, Hou, Ming‐Feng , Huang, Chiun‐Sheng , García‐Closas, Montserrat , Thorne, Heather , Hartikainen, Jaana M. , Bowtell, David D.L. , Lambrechts, Diether , Broeks, Annegien , Couch, Fergus J. , Veer, Laura J. van’t , Groot, Renate H. M. de , Marmé, Frederik , Milne, Roger L. , Pérez, José Ignacio Arias , Zamora, Pilar M. , Benı́tez, Javier , Network, The Genica, Heikkilä, Päivi , Mannermaa, Arto, Chen, Xiaoqing, kConFab, AOCS, Wang, Xianshu , Marchand, Loı̈c Le , Kristensen, Vessela N. , Devilee, Peter , Asperen, Christi J. van , Chanock, Stephen Jacob , Figueroa, Jonine D. , Leenders, Geert J.L.H. van , Hall, Per N , Cross, Simon S. , Cybulski, Cezary , Gronwald, Jacek , Anton‐Culver, Hoda , Ziogas, Argyrios , Pharoah, Paul D.P. , Nevanlinna, H , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Spurdle, Amanda B , Hein, Alexander , Hillemanns, Peter , Lissowska, Jolanta , Caldas, Carlos , Southey, Melissa C , Sinn, Peter , Dunning, Alison M , Jakubowska, Anna , Lambrechts, Diether , Cox, Angela , García-Closas, Montserrat , Schmidt, Marjanka K , Severi, Gianluca , Ekici, Arif B , Hartikainen, Jaana M , Chenevix-Trench, Georgia , Huzarski, Tomasz , Czene, Kamila , Bowtell, David D , Lubinski, Jan , Baglietto, Laura , Bojesen, Stig E , Huang, Chiun-Sheng , Wildiers, Hans , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Liu, Jing
Human Molecular Genetics | May 19, 2011 | Volume: 20 | Issue: 16 | Pages: 3289-3303