Citations 5
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
Southey, Melissa C. , Goldgar, David E, Winqvist, Robert , Pylkäs, Katri , Michailidou, Kyriaki , Rensburg, Elizabeth J. van , Heikkinen, Tuomas , Hopper, John L. , Dörk, Thilo , Claes, Kathleen , Teo, Zhi L. , Radice, Paolo , Catucci, Irene, Peterlongo, Paolo , Odefrey, Fabrice, Dowty, James G., Schmidt, Marjanka K. , Hogervorst, Frans B.L., Verhoef, Senno, Carpenter, Jane, Clarke, Christine L. , Scott, Rodney J. , Fasching, Peter A. , Haeberle, Lothar, Ekici, Arif B. , Beckmann, Matthias W. , Peto, Julian , Fletcher, Olivia , Johnson, Nichola , Bolla, Manjeet K. , Sawyer, Elinor J. , Tomlinson, Ian , Kerin, Michael J. , Miller, Nicola, Marmé, F., Burwinkel, Barbara , Guénel, Pascal , Truong, Thérèse , Sanchez, Marie, Bojesen, Stig E. , Nielsen, Sune F. , Flyger, Henrik, Benı́tez, Javier , Zamora, M. Pilar , Menéndez, Primitiva, Brenner, Hermann , Stegmaier, Christa, Brauch, Hiltrud , Brüning, Thomas , Ko, Yon‐Dschun, Muranen, Taru , Aittomäki, Kristiina, Blomqvist, Carl , Bogdanova, Natalia , Antonenkova, Natalia, Lindblom, Annika , Margolin, Sara , Mannermaa, Arto, Kataja, Vesa , Kosma, Veli‐Matti , Hartikainen, Jaana M. , Investigators, kConFab, Group, Australian Ovarian Cancer Study, Wauters, Els , Smeets, Dominiek, Beuselinck, Benoit , Floris, Giuseppe , Chang‐Claude, Jenny , Flesch‐Janys, Dieter, Vachon, Celine M. , McLean, Catriona , Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick R. , Kristensen, Vessela, Alnæs, Grethe Grenaker, Zheng, Wei , Hunter, David J. , Lindström, Sara, Hankinson, Susan E. , Kraft, Peter , Andrulis, Irene L. , Knight, Julia A. , Glendon, Gord, Mulligan, Anna Marie , Jukkola‐Vuorinen, Arja , Grip, Mervi, Kauppila, Saila , Devilee, Peter , Tollenaar, Robert A.E.M., Seynaeve, Caroline, García‐Closas, Montserrat , Figueroa, Jonine D. , Lissowska, Jolanta , Darabi, Hatef, Eriksson, Mikael , Eccles, Diana M, Tapper, William , Gerty, Sue, Hooning, Maartje J. , Collée, J. Margriet, Tilanus‐Linthorst, Madeleine M.A., Li, Jingmei , Brand, Judith S. , Humphreys, Keith , Reed, Malcolm , Luccarini, Craig , Baynes, Caroline, Dunning, Alison M. , Hamann, Ute, Torres, Diana , Ulmer, Hans Ulrich, Rüdiger, Thomas , Jakubowska, Anna , Lubiński, Jan , Jaworska, Katarzyna, Durda, Katarzyna, Slager, Susan, Yannoukakos, Drakoulis , Swerdlow, Anthony J. , Ashworth, Alan , Orr, Nick , Jones, Michael E. , González‐Neira, Anna , Pita, Guillermo , Alonso, M. Rosario, Álvarez, Núria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel , Bacot, François, Simard, Jacques , Dumont, Martine , Soucy, Penny, Eeles, Rosalind A. , Muir, Kenneth , Grönberg, Henrik , Schleutker, Johanna , Nordestgaard, Børge G. , Weischer, Maren , Travis, Ruth C. , Neal, David E. , Donovan, Jenny , Hamdy, Freddie C. , Stanford, Janet L. , Blot, William J. , Thibodeau, Stephen N. , Schaid, Daniel J. , Kelley, Joseph L., Maier, Christiane, Kibel, Adam S. , Butterbach, Katja, Kaneva, Radka , Batra, Jyotsna , Teixeira, Manuel R. , Olama, Ali Amin Al , Benlloch, Sara, Hartmann, Arndt , Hein, Alexander , Ruebner, Matthias , Lambrechts, Diether , Nieuwenhuysen, Els Van , Vergote, Ignace , Lambretchs, Sandrina, Rossing, Mary Anne, Nickels, Stefan , Eilber, Ursula, Wang‐Gohrke, Shan , Odunsi, Kunle , Sucheston‐Campbell, Lara, Friel, Grace , Lurie, Galina, Killeen, Jeffrey , Goodman, Marc T. , Runnebaum, Ingo B., Hillemanns, Peter , Pelttari, Liisa M. , Edwards, Robert P., Ness, Roberta B., Moysich, Kirsten B., Heitz, Florian , Harter, Philipp , Kommoss, Stefan , Walsh, Christine , Lester, Jenny, Jensen, Allan , Høgdall, Estrid , Peissel, Bernard , Bernard, Loris, Goode, Ellen L. , Vierkant, Robert A. , Cunningham, Julie M. , Fogarty, Zachary C. , Kalli, Kimberly R., Liang, Dong , Lu, Karen H., Hildebrandt, Michelle A.T., Wu, Xifeng , Levine, Douglas A. , Bisogna, Maria, Iversen, Edwin S., Marks, Jeffrey R. , Akushevich, Lucy , Schildkraut, Joellen M. , Terry, Kathryn L. , Stampfer, Meir J. , Tworoger, Shelley S. , Olson, Sara H. , Salvesen, Helga B., Altena, Anne M. van , Aben, Katja K.H. , Kiemeney, Lambertus A. , Massuger, Leon F.A.G. , Bean, Yukie T., Kelemen, Linda E., Le, Nhu D. , Górski, Bohdan , Menkiszak, Janusz , Høgdall, Claus , Lundvall, Lene, Nedergaard, Lotte , Engelholm, Svend Aage, Dicks, Ed , Campbell, Ian , McNeish, Iain A. , Whittemore, Alice S. , Rothstein, Joseph H. , McGuire, Valerie, Sieh, Weiva , Cai, Hui , Teten, Rachel Threet, Sutphen, Rebecca , McLaughlin, John R, Narod, Steven A., Phelan, Catherine M., Monteiro, Álvaro N.A. , Fenstermacher, David, Lin, Hui‐Yi , Sellers, Thomas A. , Chen, Y. Ann , Chen, Zhihua , Gayther, Simon A. , Ramus, Susan J. , Menon, Usha , Wu, Anna H. , Pearce, Celeste Leigh, Pike, Malcolm C., Dansonka‐Mieszkowska, Agnieszka , Plisiecka-Hałasa, Joanna, Moes-Sosnowska, Joanna , Kupryjańczyk, Jolanta , Song, Honglin , Winship, Ingrid , Chenevix‐Trench, Georgia , Tavtigian, Sean V. , Easton, Doug , Lu, Karen H. , Durocher, Francine , Eccles, Diana , Lambrechts, Diether , Vachon, Celine, Pankratz, Vernon S, Thibodeau, Stephen, Goldgar, David E, Couch, Fergus J. , Tischkowitz, Marc D. , Foulkes, William D. , Dennis, Joe , Nevanlinna, Heli , Reis‐Filho, Jorge S. , Tsimiklis, Helen , Broeks, Annegien , dos‐Santos‐Silva, Isabel , Yang, Rongxi , Ménégaux, F. , Sanchez, Marie, Pérez, José Ignacio Arias , Anton‐Culver, Hoda , Neuhausen, Susan L. , Ziogas, Argyrios , Clarke, Christina A. , Arndt, Volker , Mannermaa, Arto, Spurdle, Amanda B. , Group, Australian Ovarian Cancer Study, Rudolph, Anja , Seibold, Petra , Olson, Janet E. , Vachon, Celine M. , Pankratz, V. Shane , Marchand, Loı̈c Le , Kristensen, Vessela N. , Hankinson, Susan E. , Hollestelle, Antoinette , Chanock, Stephen Jacob , Czene, Kamila , Eriksson, Mikael , Eccles, Diana M, Rafiq, Sajjad , Hooning, Maartje J. , Martens, John W.M. , Hall, Per N , Cox, Angela , Toland, Amanda Ewart , Ambrosone, Christine B. , Wiklund, Fredrik E. , Khaw, Kay‐Tee , Cybulski, Cezary , Cannon‐Albright, Lisa , Park, Jong, Kote‐Jarai, Zsofia , Renner, Stefan P. , Doherty, Jennifer A. , Wilkens, Lynne R. , Bützow, Ralf C. , Modugno, Francesmary , Moysich, Kirsten B., Bois, Andreas du , Karlan, Beth Y. , Kjær, Susanne K. , Bonanni, Bernardo , Fridley, Brooke L. , Larson, Melissa C. , Hildebrandt, Michelle A.T. , Dao, Fanny , Berchuck, Andrew , Cramer, Daniel W. , Poole, Elizabeth M. , Bandera, Elisa V. , Orlow, Irene , Bjørge, Line , Pejovic, Tanja B. , Brooks‐Wilson, Angela , Cook, Linda S. , Gronwald, Jacek , Tyrer, Jonathan P. , Paul, James , Siddiqui, Nadeem , Glasspool, Rosalind , Shu, Xiao‐Ou , McLaughlin, John R, Permuth, Jennifer B. , Gentry‐Maharaj, Aleksandra , Berg, David Van Den , Pharoah, Paul D.P. , Giles, Graham G. , Milne, Roger L. , Pelttari, L M , Dörk, Thilo , Lambrechts, Diether , Kiemeney, Lambertus A , McNeish, Iain A , Peterlongo, Paolo , Ramus, Susan J , Teixeira, Manuel R , Tworoger, Shelley S , van Rensburg, Elizabeth J , Hein, Alexander , Hillemanns, Peter , Jensen, Allan , Vierkant, Robert A , Eccles, Diana , Menon, Usha , Monteiro, Alvaro N , Swerdlow, Anthony J , Moysich, Kirsten , Radice, Paolo , Lissowska, Jolanta , Claes, Kathleen B M , Campbell, Ian G , Eeles, Rosalind A , Southey, Melissa C , Menkiszak, Janusz , Donovan, Jenny L , Muir, Kenneth , Schleutker, Johanna , Travis, Ruth C , Lin, Hui-Yi , Fogarty, Zachary C , Dunning, Alison M , Heitz, Florian , Jakubowska, Anna , Jones, Michael E , Kupryjanczyk, Jolanta , Lambrechts, Diether , Sieh, Weiva , Brenner, Hermann , Guénel, Pascal , Li, Jingmei , Muranen, Taru A , Torres, Diana , García-Closas, Montserrat , Schmidt, Marjanka K , Winship, Ingrid M , Ekici, Arif B , Michailidou, Kyriaki , Hartikainen, Jaana M , Bogdanova, Natalia V , Kraft, Peter , Benitez, Javier , Simard, Jacques , Chenevix-Trench, Georgia , Zheng, Wei , Figueroa, Jonine D , Høgdall, Estrid , Høgdall, Claus K , Batra, Jyotsna , Pylkäs, Katri , Yannoukakos, Drakoulis , Devilee, Peter , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Goodman, Marc T , Truong, Therese , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Orr, Nick
Journal of Medical Genetics | September 5, 2016 | Volume: 53 | Issue: 12 | Pages: 800-811
Background The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10−5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10−8) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.
Abstract 1924: Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes
Visscher, Daniel W., Carpenter, Jane, Mannerma, Arto, Zheng, Wei , Hamann, Ute , Vachon, Celine M. , Purrington, Kristen S. , Yannoukakos, Drakoulis , Nevanlinna, Heli , Wang, Xianshu , Giles, Graham G. , Cox, Angela , Brauch, Hiltrud , Eccles, Diana , Vachon, Celine M. , Couch, Fergus J. , Zheng, Wei
Cancer Research | August 5, 2015 | Volume: 75 | Issue: 15_Supplement | Pages: 1924-1924
Abstract Distinct subtypes of triple negative (TN) breast cancer have currently been identified by tumor expression profiling and are thought to be influenced by the tumor microenvironment. However, little is known about the relationship between distinguishing histopathologic features of TN tumors, which reflect aspects of both tumor behavior and tumor microenvironment, and molecular TN subtypes. We analyzed whole genome expression profiles of 593 TN tumors from the Triple Negative Breast Cancer Consortium (TNBCC) using the Illumina Whole Genome DASL array. Histopathologic review of mitotic index, grade, trabecular pattern, growth pattern, involution, presence of ductal carcinoma in situ, and degree of lymphoid infiltrate, necrosis, fibrosis, and lobulitis was completed for 310 of these tumors. Clusters were identified both agnostically and using genes associated with these histopathologic features, and subtypes were evaluated for enriched pathways and associations with histopathologic features. Agnostic clustering identified four stable clusters which represented a basal-like (BL) signature, a luminal signature with overexpression of androgen receptor and targets, an immune signature, and a stromal (STR) signature. Overall, the TN tumors tended to have little or no necrosis (91%), high grade (88%), a high mitotic index (80%), fibrosis (77%), an epicentric growth pattern (62%), incomplete lobular involution (55%), trabecular structures (37%), lymphocytic infiltration (25%), adjacent ductal carcinoma in situ (24%), and variable amounts of lobulitis. Using a combined total of 2,776 unique probes individually associated with the ten histopathologic features measured, we identified six distinct TN subtypes, with an additional BL and STR signature compared to the four agnostic subtypes. Our findings suggest that histopathologic features that reflect heterogeneity in tumor cell structure and behavior as well as the tumor microenvironment, particularly the presence of lymphocytic infiltrate, are critical for TN subtype identification. Further work is needed to validate these signatures and to better understand the immunologic pathways associated with each subtype. Citation Format: Kristen Purrington, Daniel Visscher, Drakoulis Yannoukakos, Jane Carpenter, Heli Nevanlinna, Arto Mannerma, Xianshu Wang, Graham Giles, Wei Zheng, Angela Cox, Hiltrud Brauch, Ute Hamann, Diana Eccles, Celine M. Vachon, Fergus J. Couch. Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 1924. doi:10.1158/1538-7445.AM2015-1924
Abstract 3266: Expression quantitative trait locus analysis of triple negative breast cancer
Carpenter, Jane, Severi, Gianluca , Fasching, Peter A. , Miron, Penelope , Chang‐Claude, Jenny , Kristensen, Vessela N. , Goodfellow, Paul J. , Sicotte, Hugues , Prodduturi, Naresh, Visscher, Daniel W., Eckel‐Passow, Jeanette E. , Anderson, S. Keith , Olswold, Curtis, Mannermaa, Arto, Hamann, Ute , Eccles, Diana M., Vachon, Celine M., Purrington, Kristen S. , Yannoukakos, Drakoulis , Nevanlinna, Heli , Cox, Angela , Ambrosone, Christine B. , Toland, Amanda Ewart , Godwin, Andrew K. , Brauch, Hiltrud , Martin, Nicholas G. , Montgomery, Grant W. , Anton‐Culver, Hoda , Olson, Janet E. , Slettedahl, Seth W. , Wang, Xianshu , Pankratz, V. Shane , Slager, Susan L. , Zheng, Wei , Mannermaa, Arto, Eccles, Diana M., Couch, Fergus J. , Severi, Gianluca
Cancer Research | May 1, 2015 | Volume: 74 | Issue: 19_Supplement | Pages: 3266-3266
Abstract Recent studies have shown that associations between common genetic variation and gene expression in breast tumors provide insight into the functional mechanisms underlying breast cancer risk loci. However, the relationship between genetic variation, gene expression, and risk of triple negative (TN) breast cancer remains largely unexplored. We performed a genome-wide expression quantitative trait locus (eQTL) analysis of TN breast cancer using 668 formalin-fixed paraffin embedded TN tumors from the Triple Negative Breast Cancer Consortium (TNBCC) to identify novel genes relevant to TN breast cancer risk and to further explore the biology underlying known TN risk loci. Cis-eQTLs were defined as correlations between single nucleotide polymorphisms (SNP) and expression of genes within 1Mb, and trans-eQTLs were defined as the remainder of all SNP-gene correlations. In a genome-wide analysis, we identified 68,012 cis-eQTLs, representing correlations between 42,193 SNPs and 2,092 genes that were significant at a 10% false discovery rate (FDR). We also identified 70 trans-eQTLs across two unique genes at the same FDR threshold. Five cis-eQTLs involved SNPs previously associated with TN breast cancer risk (p<5.0x10-5) in 3,700 TN cases and 4,700 controls from the TNBCC. Three of these, located on chromosomes 5p (cis-eQTL p=4.8x10-34; risk p=1.1x10-7), 7p (cis-eQTL p=6.1x10-10; risk p=1.3x10-7), and 17q (cis-eQTL p=1.8x10-15; risk p=2.9x10-7), have previously been reported in public databases of normal tissue. The remaining two TN breast cancer cis-eQTLs, located on chromosomes 8q (cis-eQTL p=6.3x10-6, risk p=8.3x10-6) and 14q (cis-eQTL p=3.1x10-6, risk p=1.2x10-5), have not been reported as eQTLs in other tissues. In addition, 12 of 25 known TN breast cancer risk loci (PEX14, MDM4, 2q31.1, ESR1, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, 19p13.1, MLK1), contained at least one significant cis-eQTL. In summary, we have identified five cis-eQTLs that may identify novel risk loci for TN breast cancer. Citation Format: Kristen S. Purrington, Drakoulis Yannoukakos, Jane Carpenter, Heli Nevanlinna, Angela Cox, Gianluca Severi, Christine Ambrosone, Amanda Ewart Toland, Andrew K. Godwin, Hiltrud Brauch, Peter A. Fasching, Penelope Miron, Jenny Chang-Claude, Nicholas G. Martin, Grant W. Montgomery, Vessela Kristensen, Hoda Anton-Culver, Paul Goodfellow, Janet E. Olson, Hugues Sicotte, Naresh Prodduturi, Daniel W. Visscher, Jeanette E. Eckel-Passow, S. Keith Anderson, Seth Slettedahl, Curtis Olswold, Xianshu Wang, V. Shane Pankratz, Susan Slager, Wei Zheng, Arto Mannermaa, Ute Hamann, Diana M. Eccles, Celine M. Vachon, Fergus J. Couch. Expression quantitative trait locus analysis of triple negative breast cancer. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 3266. doi:10.1158/1538-7445.AM2014-3266
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11
Siddiq, Afshan , Chen, Gary K., Lindström, Sara, Eccles, Diana , Millikan, Robert C., Michailidou, Kyriaki , Beckmann, Lars , Aittomäki, Kristiina , Apicella, Carmel, Investigators, Australian Breast Cancer Tissue Bank, Baglietto, Laura , Bandera, Elisa V. , Beckmann, Matthias W. , Berg, Christine D. , Blomqvist, Carl , Brauch, Hiltrud , Brinton, Louise A. , Bui, Minh , Buring, Julie E. , Campa, Daniele , Carpenter, Jane, Chang‐Claude, Jenny, Chen, Constance, Clavel-Chapelon, Françoise, Cox, Angela , Cross, Simon S. , Czene, Kamila , Deming, Sandra L., Diasio, Robert B. , Diver, W. Ryan , Dunning, Alison M. , Durcan, Lorraine , Ekici, Arif B. , Fasching, Peter A. , Study, Familial Breast Cancer, Fejerman, Laura , Figueroa, Jonine D. , Flesch‐Janys, Dieter, Gaudet, Mia M., Gerty, Susan M. , Rodriguez‐Gil, Jorge L. , Giles, Graham G. , Gils, Carla H. van , Graham, Nikki , Greco, Dario , Hankinson, Susan E. , Hartmann, Arndt, Hein, Rebecca, Heinz, Judith , Hoover, Robert N. , Hu, Jennifer J. , Huntsman, Scott , Irwanto, Astrid , Jacobs, Kevin B. , John, Esther M. , Justenhoven, Christina , Kolonel, Laurence N. , Coetzee, Gerhard A. , Lathrop, Mark, Lee, I‐Min , Lesnick, Timothy G. , Lichtner, Peter , Liu, Jianjun , Lund, Eiliv , Makalic, Enes , Martin, Nicholas G. , McLean, Catriona , Meijers‐Heijboer, Hanne , Meindl, Alfons , Miron, Penelope , Montgomery, Grant W. , Müller‐Myhsok, Bertram , Nickels, Stefan , Nyante, Sarah J. , Olswold, Curtis, Overvad, Kim , Palli, Domenico , Park, Daniel J. , Palmer, Julie R. , Peto, Julian , Rahman, Nazneen , Rivadeneira, Fernando , Schmutzler, Rita K. , Slager, Susan, Southey, Melissa C. , Stevens, Kristen N., Sinn, Hans‐Peter , Ross, Eric A. , Ríboli, Elio , Schumacher, Fredrick R. , Severi, Gianluca , Stone, Jennifer , Sund, Malin , Tapper, William , Thun, Michael J., Travis, Ruth C. , Turnbull, Clare , Uitterlinden, André G. , Waisfisz, Quinten , Wang, Zhaoming , Weaver, JoEllen , Schulz-Wendtland, Rüdiger, Nevanlinna, Heli , Easton, Douglas F., Hunter, David J. , Henderson, Brian E., García‐Closas, Montserrat , Kraft, Peter , Haiman, Christopher A. , Vachon, Celine M. , Zheng, Wei , Purrington, Kristen S. , Couch, Fergus J. , Stram, Daniel O. , Rhie, Suhn K. , Ambrosone, Christine B. , Amiano, Pilar , Investigators, Australian Breast Cancer Tissue Bank, Bernstein, Leslie , Bui, Minh , Buys, Saundra S. , Chasman, Daniel I. , Study, Familial Breast Cancer, Feigelson, Heather Spencer , Fletcher, Olivia , Godwin, Andrew K. , Hall, Per N , Hankinson, Susan E. , Hopper, John L. , Ingles, Sue A. , Isaacs, Claudine , Kaaks, Rudolf , Marchand, Loı̈c Le , Lee, Adam M. , Meindl, Alfons , Monroe, Kristine R. , Pathak, Harsh B. , Pharoah, Paul D.P. , Schmidt, Daniel F. , Press, Michael F. , Ridker, Paul M. , dos‐Santos‐Silva, Isabel , Wang, Xianshu , Wilkens, Lynne R. , Berg, David Van Den , Zheng, Wei , Ziegler, Regina G. , Ziv, Elad , Chanock, Stephen Jacob , Vachon, Celine M. , Nevanlinna, H , Giles, Graham G , Eccles, Diana , John, Esther M , Palli, Domenico , Southey, Melissa C , Martin, Nicholas G , Sinn, Peter , Travis, Ruth C , Wang, Zhaoming , Dunning, Alison M , Cox, Angela , García-Closas, Montserrat , Severi, Gianluca , Makalic, Enes , Ekici, Arif B , Michailidou, Kyriaki , Palmer, Julie R , Kraft, Peter , Zheng, Wei , Figueroa, Jonine D , Nyante, Sarah , Czene, Kamila , Stone, Jennifer , Riboli, Elio , Sund, Malin , Baglietto, Laura , Purrington, Kristen S , Mclean, Catriona , Brauch, Hiltrud , Liu, Jing , Bandera, Elisa V.
Human Molecular Genetics | September 14, 2012 | Volume: 21 | Issue: 24 | Pages: 5373-5384
Common Breast Cancer Susceptibility Loci Are Associated with Triple-Negative Breast Cancer
Stevens, Kristen N., Vachon, Celine M. , Slager, Susan, Lesnick, Timothy G. , Olswold, Curtis, Fasching, Peter A. , Miron, Penelope , Eccles, Diana , Carpenter, Jane, Winqvist, Robert , Brauch, Hiltrud , Schmidt, Marjanka K. , Cox, Angela , Cross, Simon S. , Sawyer, Elinor J. , Hartmann, Arndt, Beckmann, Matthias W. , Schulz-Wendtland, Rüdiger, Ekici, Arif B. , Tapper, William , Gerty, Susan M. , Durcan, Lorraine , Graham, Nikki , Hein, Rebecca, Nickels, Stephan, Flesch‐Janys, Dieter, Heinz, Judith , Sinn, Hans‐Peter , Konstantopoulou, Irene , Pectasides, Dimitrios , Dimopoulos, Athanasios M., Clarke, Christine L. , Balleine, Rosemary L. , Fredericksen, Zachary, Diasio, Robert B. , Ross, Eric A. , Weaver, JoEllen , Rüdiger, Thomas , Dünnebier, Thomas, Ademuyiwa, Foluso O. , Kulkarni, Swati , Pylkäs, Katri , Jukkola‐Vuorinen, Arja , Ko, Yon‐Dschun, Limbergen, Erik Van, Janssen, Hilde, Peto, Julian , Fletcher, Olivia , Giles, Graham G. , Baglietto, Laura , Verhoef, Senno, Tomlinson, Ian , Kosma, Veli‐Matti , Greco, Dario , Blomqvist, Carl , Irwanto, Astrid , Liu, Jianjun , Blows, Fiona M., Dawson, Sarah‐Jane , Margolin, Sara , Mannermaa, Arto, Martin, Nicholas G. , Montgomery, Grant W. , Lambrechts, Diether , dos‐Santos‐Silva, Isabel , Severi, Gianluca , Hamann, Ute, Easton, Douglas F., Chang‐Claude, Jenny , Yannoukakos, Drakoulis , Nevanlinna, Heli , Dimopoulos, Meletios Α. , Purrington, Kristen S. , Lambrechts, Diether , Vachon, Celine M. , Lee, Adam M. , Godwin, Andrew K. , Ambrosone, Christine B. , Fostira, Florentia , Dimopoulos, Athanasios M., Fountzilas, George , Olson, Janet E. , Pathak, Harsh B. , Försti, Asta , Beesley, Jonathan , Mannermaa, Arto, Pharoah, Paul D.P. , Wang, Xianshu , Couch, Fergus J. , Nevanlinna, H , Lambrechts, Diether , Giles, Graham G , Eccles, Diana , Dimopoulos, Meletios A , Konstantopoulou, Irene , Martin, Nicholas G , Sinn, Peter , Lambrechts, Diether , Cox, Angela , Schmidt, Marjanka K , Severi, Gianluca , Ekici, Arif B , Ademuyiwa, Foluso O , Pylkäs, Katri , Yannoukakos, Drakoulis , Baglietto, Laura , Fletcher, Olivia , Purrington, Kristen S , Brauch, Hiltrud , Sawyer, Elinor J , Liu, Jing
Cancer Research | August 15, 2011 | Volume: 71 | Issue: 19 | Pages: 6240-6249
Abstract Triple-negative breast cancers are an aggressive subtype of breast cancer with poor survival, but there remains little known about the etiologic factors that promote its initiation and development. Commonly inherited breast cancer risk factors identified through genome-wide association studies display heterogeneity of effect among breast cancer subtypes as defined by the status of estrogen and progesterone receptors. In the Triple Negative Breast Cancer Consortium (TNBCC), 22 common breast cancer susceptibility variants were investigated in 2,980 Caucasian women with triple-negative breast cancer and 4,978 healthy controls. We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs3803662 (TOX3), rs999737 (RAD51L1), rs8170 (19p13.1), and rs8100241 (19p13.1), significantly associated with the risk of triple-negative breast cancer. Together, our results provide convincing evidence of genetic susceptibility for triple-negative breast cancer. Cancer Res; 71(19); 6240–9. ©2011 AACR.