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2. Molecular profiling after short-term preoperative endocrine therapy to identify oestrogen receptor positive (ER+)/HER2+ early breast tumours with favourable prognosis.

Author

Bergamino Sirvén, Milana, primary, Lopez-Knowles, Elena, additional, Zhu, Xixuan, additional, Tovey, Holly, additional, Xiao, Hui, additional, Kilburn, Lucy, additional, Alataki, Anastasia, additional, Holcombe, Chris, additional, Skene, Anthony, additional, Smith, Ian E., additional, Robertson, John Forsyth Russell, additional, Bliss, Judith, additional, Schuster, Eugene F., additional, Dowsett, Mitchell, additional, and Cheang, Maggie Chon U, additional

Published
2024
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3. HER2-enriched subtype and novel molecular subgroups drive aromatase inhibitor resistance and an increased risk of relapse in early ER+/HER2+ breast cancer

Author

Evans, Abigail, Ball, Adrian, Johri, Akhil, Nejim, Ali, Jones, Alison, Corder, Allan, Thorne, Amanda, Anand, Ambika, Chakrabarti, Amitabha, Robinson, Anne, Skene, Anthony, Modi, Anupam, Patel, Ashraf, Kothari, Ashutosh, McFall, Brendan, Mortimer, Caroline, Lee, Caroline, Chan, Charlie, Abson, Charlotte, Holcombe, Christopher, Hinton, Christopher, Hollywood, Ciaran, Murphy, Claire, Crowley, Clare, Harding-Mackean, Claudia, Griffith, Clive, Lewanski, Conrad, Rea, Daniel, Hwang, David, Crawford, Derek, Thekkinkattil, Dinesh, Ferguson, Douglas, Adamson, Douglas, Wheatley, Duncan, Ravichandran, Duraisamy, Babu, Ed, Hyett, Elaine, Ashkanani, Fawzia, Hoar, Fiona, Kenny, Frances, Dyke, Gary, Sparrow, Geoffrey, Gilbert, Cunnick, Giles, Algurafi, Hafiz, Sweetland, Helen, Prof, Highes-Davies, Hamed, Hisham, Smith, Ian, Laidlaw, Ian, Khattak, Ilyas, Newby, Jacqueline, Rees-Lee, Jacqueline, Kokan, Jalal, Barrett, Jane, Naik, Jay Dolatrai, Vaidya, Jayant, Forrest, Jennifer, Parmar, Jitendra, Adams, Jocelyn, Fox, John, Roberts, Jonathan, Dawson, Jonathan, Doughty, Julie, Donnelly, Jull, Dunn, Kathleen, Chin, Kian, Horgan, Kieran, Thakur, Kislaya, Barthelmes, Ludger, Wyld, Lynda, Bhattacharyya, Madhumita, Hadaki, Maher, Kishore, Makam, Ornstein, Marcus, Bramley, Maria, Bews-Hair, Maria, Parton, Marina, Sibbering, Mark, Kissin, Mark, Churn, Mark, Hogg, Martin, Quigley, Mary, Hatton, Matthew, Winter, Matthew, Adelekan, Matthew, Shere, Michael, Carr, Michael, Williams, Michael, Absar, Mohammed, Sharif, Muhammad, Kelleher, Muireann, Walji, Nawaz, Williams, Nicholas, Gallegos, Nicholas, Bundred, Nigel, Hatcher, Olivia, Crellin, Perric, Crane, Peter, Donnelly, Peter, Kneeshaw, Peter, Walker, Philip, Sinha, Prakash, Bhaskar, Pudhupalayam, Soulsby, Racheal, Todd, Radha, Vidya, Raghavan, Mehra, Rakesh, Prasad, Ramachandran, Cutress, Ramsay, Sharma, Ravi, Roylance, Rebecca, Goranova, Rebecca, Salman, Reem Ramzi, Bonom, Riccardo, Johnson, Richard, Sutton, Richard, Linforth, Rick, Coleman, Rob, Grieve, Robert, Leonard, Robert, Reichert, Robert, Kennedy, Robert, Agarwal, Roshan, Allerton, Rozenn, Burcombe, Russell, Davis, Ruth, Narayanan, Sankaran, Chandrasekharan, Sankaran, Vesty, Sarah, Seetharam, Seema, Ledwidge, Serena, Iqbal, Shabana, Wahee, Shamaela, Silva, Shobha, Pain, Simon, Holt, Simon, Thomson, Simon, Smith, Simon, Ellenbogen, Simon, Laws, Siobhan, Chan, Stephen, Johnston, Stephen, Holt, Steve, Thrush, Steven, McIntosh, Stuart, Chatterjee, Sumohan, Cleator, Susan, Usman, Tamoor, Johnson, Tayo, Kovacs, Tibor, Irvine, Tracey, Barthkur, Urmila, Pope, Vanessa, Brown, Victoria Alexandra, Muralikrishna, Vummiti, Samra, Walid, Maxwell, William, Winters, Zoe, Bergamino, Milana A., López-Knowles, Elena, Morani, Gabriele, Tovey, Holly, Kilburn, Lucy, Schuster, Eugene F., Alataki, Anastasia, Hills, Margaret, Xiao, Hui, Holcombe, Chris, Robertson, John F., Smith, Ian E., Bliss, Judith M., Dowsett, Mitch, and Cheang, Maggie C.U.

Published
2022
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5. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

Author

Dunning, Alison M, Michailidou, Kyriaki, Kuchenbaecker, Karoline B, Thompson, Deborah, French, Juliet D, Beesley, Jonathan, Healey, Catherine S, Kar, Siddhartha, Pooley, Karen A, Lopez-Knowles, Elena, Dicks, Ed, Barrowdale, Daniel, Sinnott-Armstrong, Nicholas A, Sallari, Richard C, Hillman, Kristine M, Kaufmann, Susanne, Sivakumaran, Haran, Moradi Marjaneh, Mahdi, Lee, Jason S, Hills, Margaret, Jarosz, Monika, Drury, Suzie, Canisius, Sander, Bolla, Manjeet K, Dennis, Joe, Wang, Qin, Hopper, John L, Southey, Melissa C, Broeks, Annegien, Schmidt, Marjanka K, Lophatananon, Artitaya, Muir, Kenneth, Beckmann, Matthias W, Fasching, Peter A, Dos-Santos-Silva, Isabel, Peto, Julian, Sawyer, Elinor J, Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guénel, Pascal, Truong, Thérèse, Bojesen, Stig E, Flyger, Henrik, González-Neira, Anna, Perez, Jose IA, Anton-Culver, Hoda, Eunjung, Lee, Arndt, Volker, Brenner, Hermann, Meindl, Alfons, Schmutzler, Rita K, Brauch, Hiltrud, Hamann, Ute, Aittomäki, Kristiina, Blomqvist, Carl, Ito, Hidemi, Matsuo, Keitaro, Bogdanova, Natasha, Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Kosma, Veli-Matti, Mannermaa, Arto, Tseng, Chiu-Chen, Wu, Anna H, Lambrechts, Diether, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Peterlongo, Paolo, Radice, Paolo, Olson, Janet E, Giles, Graham G, Milne, Roger L, Haiman, Christopher A, Henderson, Brian E, Goldberg, Mark S, Teo, Soo H, Yip, Cheng Har, Nord, Silje, Borresen-Dale, Anne-Lise, Kristensen, Vessela, Long, Jirong, Zheng, Wei, Pylkäs, Katri, Winqvist, Robert, Andrulis, Irene L, Knight, Julia A, Devilee, Peter, Seynaeve, Caroline, Figueroa, Jonine, Sherman, Mark E, Czene, Kamila, Darabi, Hatef, Hollestelle, Antoinette, van den Ouweland, Ans MW, Humphreys, Keith, Gao, Yu-Tang, and Shu, Xiao-Ou

Subjects
EMBRACE, GEMO Study Collaborators, HEBON, kConFab Investigators, Chromosomes, Human, Pair 6, Humans, Breast Neoplasms, Genetic Predisposition to Disease, Carrier Proteins, Cell Cycle Proteins, Estrogen Receptor alpha, Risk Factors, Gene Expression, Gene Expression Regulation, Neoplastic, Base Sequence, Protein Binding, Phenotype, Polymorphism, Single Nucleotide, Female, Genetic Association Studies, Cancer, Clinical Research, Breast Cancer, Genetics, Aetiology, 2.1 Biological and endogenous factors, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.

Published
2016

7. Molecular profiling of aromatase inhibitor sensitive and resistant ER+HER2- postmenopausal breast cancers

Author

Schuster, Eugene F., primary, Lopez-Knowles, Elena, additional, Alataki, Anastasia, additional, Zabaglo, Lila, additional, Folkerd, Elizabeth, additional, Evans, David, additional, Sidhu, Kally, additional, Cheang, Maggie Chon U., additional, Tovey, Holly, additional, Salto-Tellez, Manuel, additional, Maxwell, Perry, additional, Robertson, John, additional, Smith, Ian, additional, Bliss, Judith M., additional, and Dowsett, Mitch, additional

Published
2023
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8. Supplementary Figure 5 from Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance

Author

Pearson, Alex, primary, Proszek, Paula, primary, Pascual, Javier, primary, Fribbens, Charlotte, primary, Shamsher, Monee K., primary, Kingston, Belinda, primary, O'Leary, Ben, primary, Herrera-Abreu, Maria T., primary, Cutts, Rosalind J., primary, Garcia-Murillas, Isaac, primary, Bye, Hannah, primary, Walker, Brian A., primary, Gonzalez De Castro, David, primary, Yuan, Lina, primary, Jamal, Sabri, primary, Hubank, Mike, primary, Lopez-Knowles, Elena, primary, Schuster, Eugene F., primary, Dowsett, Mitch, primary, Osin, Peter, primary, Nerurkar, Ashutosh, primary, Parton, Marina, primary, Okines, Alicia F.C., primary, Johnston, Stephen R.D., primary, Ring, Alistair, primary, and Turner, Nicholas C., primary

Published
2023
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9. Supplementary Figure 2 from Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance

Author

Pearson, Alex, primary, Proszek, Paula, primary, Pascual, Javier, primary, Fribbens, Charlotte, primary, Shamsher, Monee K., primary, Kingston, Belinda, primary, O'Leary, Ben, primary, Herrera-Abreu, Maria T., primary, Cutts, Rosalind J., primary, Garcia-Murillas, Isaac, primary, Bye, Hannah, primary, Walker, Brian A., primary, Gonzalez De Castro, David, primary, Yuan, Lina, primary, Jamal, Sabri, primary, Hubank, Mike, primary, Lopez-Knowles, Elena, primary, Schuster, Eugene F., primary, Dowsett, Mitch, primary, Osin, Peter, primary, Nerurkar, Ashutosh, primary, Parton, Marina, primary, Okines, Alicia F.C., primary, Johnston, Stephen R.D., primary, Ring, Alistair, primary, and Turner, Nicholas C., primary

Published
2023
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11. Supplementary Figure 4 from Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance

Author

Pearson, Alex, primary, Proszek, Paula, primary, Pascual, Javier, primary, Fribbens, Charlotte, primary, Shamsher, Monee K., primary, Kingston, Belinda, primary, O'Leary, Ben, primary, Herrera-Abreu, Maria T., primary, Cutts, Rosalind J., primary, Garcia-Murillas, Isaac, primary, Bye, Hannah, primary, Walker, Brian A., primary, Gonzalez De Castro, David, primary, Yuan, Lina, primary, Jamal, Sabri, primary, Hubank, Mike, primary, Lopez-Knowles, Elena, primary, Schuster, Eugene F., primary, Dowsett, Mitch, primary, Osin, Peter, primary, Nerurkar, Ashutosh, primary, Parton, Marina, primary, Okines, Alicia F.C., primary, Johnston, Stephen R.D., primary, Ring, Alistair, primary, and Turner, Nicholas C., primary

Published
2023
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12. Supplementary Figure 3 from Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance

Author

Pearson, Alex, primary, Proszek, Paula, primary, Pascual, Javier, primary, Fribbens, Charlotte, primary, Shamsher, Monee K., primary, Kingston, Belinda, primary, O'Leary, Ben, primary, Herrera-Abreu, Maria T., primary, Cutts, Rosalind J., primary, Garcia-Murillas, Isaac, primary, Bye, Hannah, primary, Walker, Brian A., primary, Gonzalez De Castro, David, primary, Yuan, Lina, primary, Jamal, Sabri, primary, Hubank, Mike, primary, Lopez-Knowles, Elena, primary, Schuster, Eugene F., primary, Dowsett, Mitch, primary, Osin, Peter, primary, Nerurkar, Ashutosh, primary, Parton, Marina, primary, Okines, Alicia F.C., primary, Johnston, Stephen R.D., primary, Ring, Alistair, primary, and Turner, Nicholas C., primary

Published
2023
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13. Supplementary Figure 1 from Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance

Author

Pearson, Alex, primary, Proszek, Paula, primary, Pascual, Javier, primary, Fribbens, Charlotte, primary, Shamsher, Monee K., primary, Kingston, Belinda, primary, O'Leary, Ben, primary, Herrera-Abreu, Maria T., primary, Cutts, Rosalind J., primary, Garcia-Murillas, Isaac, primary, Bye, Hannah, primary, Walker, Brian A., primary, Gonzalez De Castro, David, primary, Yuan, Lina, primary, Jamal, Sabri, primary, Hubank, Mike, primary, Lopez-Knowles, Elena, primary, Schuster, Eugene F., primary, Dowsett, Mitch, primary, Osin, Peter, primary, Nerurkar, Ashutosh, primary, Parton, Marina, primary, Okines, Alicia F.C., primary, Johnston, Stephen R.D., primary, Ring, Alistair, primary, and Turner, Nicholas C., primary

Published
2023
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14. Supplementary Tables 1-6 from Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance

Author

Pearson, Alex, primary, Proszek, Paula, primary, Pascual, Javier, primary, Fribbens, Charlotte, primary, Shamsher, Monee K., primary, Kingston, Belinda, primary, O'Leary, Ben, primary, Herrera-Abreu, Maria T., primary, Cutts, Rosalind J., primary, Garcia-Murillas, Isaac, primary, Bye, Hannah, primary, Walker, Brian A., primary, Gonzalez De Castro, David, primary, Yuan, Lina, primary, Jamal, Sabri, primary, Hubank, Mike, primary, Lopez-Knowles, Elena, primary, Schuster, Eugene F., primary, Dowsett, Mitch, primary, Osin, Peter, primary, Nerurkar, Ashutosh, primary, Parton, Marina, primary, Okines, Alicia F.C., primary, Johnston, Stephen R.D., primary, Ring, Alistair, primary, and Turner, Nicholas C., primary

Published
2023
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17. Supplementary Figure Legend from Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance

Author

Pearson, Alex, primary, Proszek, Paula, primary, Pascual, Javier, primary, Fribbens, Charlotte, primary, Shamsher, Monee K., primary, Kingston, Belinda, primary, O'Leary, Ben, primary, Herrera-Abreu, Maria T., primary, Cutts, Rosalind J., primary, Garcia-Murillas, Isaac, primary, Bye, Hannah, primary, Walker, Brian A., primary, Gonzalez De Castro, David, primary, Yuan, Lina, primary, Jamal, Sabri, primary, Hubank, Mike, primary, Lopez-Knowles, Elena, primary, Schuster, Eugene F., primary, Dowsett, Mitch, primary, Osin, Peter, primary, Nerurkar, Ashutosh, primary, Parton, Marina, primary, Okines, Alicia F.C., primary, Johnston, Stephen R.D., primary, Ring, Alistair, primary, and Turner, Nicholas C., primary

Published
2023
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18. Supplementary Figure 1 from β-Catenin Signaling Is a Critical Event in ErbB2-Mediated Mammary Tumor Progression

Author

Schade, Babette, primary, Lesurf, Robert, primary, Sanguin-Gendreau, Virginie, primary, Bui, Tung, primary, Deblois, Geneviève, primary, O'Toole, Sandra A., primary, Millar, Ewan K.A., primary, Zardawi, Sara J., primary, Lopez-Knowles, Elena, primary, Sutherland, Robert L., primary, Giguère, Vincent, primary, Kahn, Michael, primary, Hallett, Michael, primary, and Muller, William J., primary

Published
2023
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19. Supplementary Figure 3 from β-Catenin Signaling Is a Critical Event in ErbB2-Mediated Mammary Tumor Progression

Author

Schade, Babette, primary, Lesurf, Robert, primary, Sanguin-Gendreau, Virginie, primary, Bui, Tung, primary, Deblois, Geneviève, primary, O'Toole, Sandra A., primary, Millar, Ewan K.A., primary, Zardawi, Sara J., primary, Lopez-Knowles, Elena, primary, Sutherland, Robert L., primary, Giguère, Vincent, primary, Kahn, Michael, primary, Hallett, Michael, primary, and Muller, William J., primary

Published
2023
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20. Supplementary Figure 6 from β-Catenin Signaling Is a Critical Event in ErbB2-Mediated Mammary Tumor Progression

Author

Schade, Babette, primary, Lesurf, Robert, primary, Sanguin-Gendreau, Virginie, primary, Bui, Tung, primary, Deblois, Geneviève, primary, O'Toole, Sandra A., primary, Millar, Ewan K.A., primary, Zardawi, Sara J., primary, Lopez-Knowles, Elena, primary, Sutherland, Robert L., primary, Giguère, Vincent, primary, Kahn, Michael, primary, Hallett, Michael, primary, and Muller, William J., primary

Published
2023
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21. Supplementary Methods from β-Catenin Signaling Is a Critical Event in ErbB2-Mediated Mammary Tumor Progression

Author

Schade, Babette, primary, Lesurf, Robert, primary, Sanguin-Gendreau, Virginie, primary, Bui, Tung, primary, Deblois, Geneviève, primary, O'Toole, Sandra A., primary, Millar, Ewan K.A., primary, Zardawi, Sara J., primary, Lopez-Knowles, Elena, primary, Sutherland, Robert L., primary, Giguère, Vincent, primary, Kahn, Michael, primary, Hallett, Michael, primary, and Muller, William J., primary

Published
2023
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22. Supplementary Table 1 from β-Catenin Signaling Is a Critical Event in ErbB2-Mediated Mammary Tumor Progression

Author

Schade, Babette, primary, Lesurf, Robert, primary, Sanguin-Gendreau, Virginie, primary, Bui, Tung, primary, Deblois, Geneviève, primary, O'Toole, Sandra A., primary, Millar, Ewan K.A., primary, Zardawi, Sara J., primary, Lopez-Knowles, Elena, primary, Sutherland, Robert L., primary, Giguère, Vincent, primary, Kahn, Michael, primary, Hallett, Michael, primary, and Muller, William J., primary

Published
2023
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23. Data from β-Catenin Signaling Is a Critical Event in ErbB2-Mediated Mammary Tumor Progression

Author

Schade, Babette, primary, Lesurf, Robert, primary, Sanguin-Gendreau, Virginie, primary, Bui, Tung, primary, Deblois, Geneviève, primary, O'Toole, Sandra A., primary, Millar, Ewan K.A., primary, Zardawi, Sara J., primary, Lopez-Knowles, Elena, primary, Sutherland, Robert L., primary, Giguère, Vincent, primary, Kahn, Michael, primary, Hallett, Michael, primary, and Muller, William J., primary

Published
2023
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24. Supplementary Figure 2 from β-Catenin Signaling Is a Critical Event in ErbB2-Mediated Mammary Tumor Progression

Author

Schade, Babette, primary, Lesurf, Robert, primary, Sanguin-Gendreau, Virginie, primary, Bui, Tung, primary, Deblois, Geneviève, primary, O'Toole, Sandra A., primary, Millar, Ewan K.A., primary, Zardawi, Sara J., primary, Lopez-Knowles, Elena, primary, Sutherland, Robert L., primary, Giguère, Vincent, primary, Kahn, Michael, primary, Hallett, Michael, primary, and Muller, William J., primary

Published
2023
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25. Supplementary Figure Legend from β-Catenin Signaling Is a Critical Event in ErbB2-Mediated Mammary Tumor Progression

Author

Schade, Babette, primary, Lesurf, Robert, primary, Sanguin-Gendreau, Virginie, primary, Bui, Tung, primary, Deblois, Geneviève, primary, O'Toole, Sandra A., primary, Millar, Ewan K.A., primary, Zardawi, Sara J., primary, Lopez-Knowles, Elena, primary, Sutherland, Robert L., primary, Giguère, Vincent, primary, Kahn, Michael, primary, Hallett, Michael, primary, and Muller, William J., primary

Published
2023
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26. Supplementary Figure 5 from β-Catenin Signaling Is a Critical Event in ErbB2-Mediated Mammary Tumor Progression

Author

Schade, Babette, primary, Lesurf, Robert, primary, Sanguin-Gendreau, Virginie, primary, Bui, Tung, primary, Deblois, Geneviève, primary, O'Toole, Sandra A., primary, Millar, Ewan K.A., primary, Zardawi, Sara J., primary, Lopez-Knowles, Elena, primary, Sutherland, Robert L., primary, Giguère, Vincent, primary, Kahn, Michael, primary, Hallett, Michael, primary, and Muller, William J., primary

Published
2023
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27. Supplementary Figure 4 from β-Catenin Signaling Is a Critical Event in ErbB2-Mediated Mammary Tumor Progression

Author

Schade, Babette, primary, Lesurf, Robert, primary, Sanguin-Gendreau, Virginie, primary, Bui, Tung, primary, Deblois, Geneviève, primary, O'Toole, Sandra A., primary, Millar, Ewan K.A., primary, Zardawi, Sara J., primary, Lopez-Knowles, Elena, primary, Sutherland, Robert L., primary, Giguère, Vincent, primary, Kahn, Michael, primary, Hallett, Michael, primary, and Muller, William J., primary

Published
2023
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30. Inositol polyphosphate 4-phosphatase II regulates PI3K/Akt signaling and is lost in human basal-like breast cancers

Author

Fedele, Clare G., Ooms, Lisa M., Ho, Miriel, Vieusseux, Jessica, O'Toole, Sandra A., Millar, Ewan K., Lopez-Knowles, Elena, Sriratana, Absorn, Gurung, Rajendra, Baglietto, Laura, Giles, Graham G., Bailey, Charles G., Rasko, John E. J., Shields, Benjamin J., Price, John T., Majerus, Philip W., Sutherland, Robert L., Tiganis, Tony, McLean, Catriona A., and Mitchell, Christina A.

Published
2010

33. Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance

Author

Pearson, Alex, primary, Proszek, Paula, additional, Pascual, Javier, additional, Fribbens, Charlotte, additional, Shamsher, Monee K., additional, Kingston, Belinda, additional, O'Leary, Ben, additional, Herrera-Abreu, Maria T., additional, Cutts, Rosalind J., additional, Garcia-Murillas, Isaac, additional, Bye, Hannah, additional, Walker, Brian A., additional, Gonzalez De Castro, David, additional, Yuan, Lina, additional, Jamal, Sabri, additional, Hubank, Mike, additional, Lopez-Knowles, Elena, additional, Schuster, Eugene F., additional, Dowsett, Mitch, additional, Osin, Peter, additional, Nerurkar, Ashutosh, additional, Parton, Marina, additional, Okines, Alicia F.C., additional, Johnston, Stephen R.D., additional, Ring, Alistair, additional, and Turner, Nicholas C., additional

Published
2020
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35. High Notch1 protein expression is an early event in breast cancer development and is associated with the HER-2 molecular subtype

Author

Zardawi, Sarah J, Zardawi, Ibrahim, McNeil, Catriona M, Millar, Ewan K A, McLeod, Duncan, Morey, Adrienne L, Crea, Paul, Murphy, Niamh C, Pinese, Mark, Lopez-Knowles, Elena, Oakes, Samantha R, Ormandy, Christopher J, Qiu, Min Ru, Hamilton, Anne, Spillane, Andrew, Lee, Cheok Soon, Sutherland, Robert L, Musgrove, Elizabeth A, and OʼToole, Sandra A

Published
2010
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36. Molecular characterisation of aromatase inhibitor-resistant advanced breast cancer: the phenotypic effect of ESR1 mutations

Author

Lopez-Knowles, Elena, primary, Pearson, Alex, additional, Schuster, Gene, additional, Gellert, Pascal, additional, Ribas, Ricardo, additional, Yeo, Belinda, additional, Cutts, Ros, additional, Buus, Richard, additional, Garcia-Murillas, Isaac, additional, Haynes, Ben, additional, Martin, Lesley-Ann, additional, Smith, Ian, additional, Turner, Nick, additional, and Dowsett, Mitch, additional

Published
2018
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37. Tumor PIK3CA Genotype and Prognosis in Early-Stage Breast Cancer: A Pooled Analysis of Individual Patient Data

Author

Zardavas, Dimitrios, te Marvelde, Luc, Milne, Roger L., Fumagalli, Debora, Fountzilas, George, Kotoula, Vassiliki, Razis, Evangelia, Papaxoinis, George, Joensuu, Heikki, Moynahan, Mary Ellen, Hennessy, Bryan T., Bieche, Ivan, Saal, Lao H., Stål, Olle, Iacopetta, Barry, Jensen, Jeanette Dupont, OToole, Sandra, Lopez-Knowles, Elena, Barbaraeschi, Mattia, Noguchi, Shinzaburo, Azim, Hatem A. Jr., Lerma, Enrique, Bachelot, Thomas, Wang, Qing, Perez Tenorio, Gizeh, de Velde, Cornelis J. H. Can, Rea, Daniel W., Sabine, Vicky, Bartlett, John M. S., Sotiriou, Christos, Michiels, Stefan, Loi, Sherene, Zardavas, Dimitrios, te Marvelde, Luc, Milne, Roger L., Fumagalli, Debora, Fountzilas, George, Kotoula, Vassiliki, Razis, Evangelia, Papaxoinis, George, Joensuu, Heikki, Moynahan, Mary Ellen, Hennessy, Bryan T., Bieche, Ivan, Saal, Lao H., Stål, Olle, Iacopetta, Barry, Jensen, Jeanette Dupont, OToole, Sandra, Lopez-Knowles, Elena, Barbaraeschi, Mattia, Noguchi, Shinzaburo, Azim, Hatem A. Jr., Lerma, Enrique, Bachelot, Thomas, Wang, Qing, Perez Tenorio, Gizeh, de Velde, Cornelis J. H. Can, Rea, Daniel W., Sabine, Vicky, Bartlett, John M. S., Sotiriou, Christos, Michiels, Stefan, and Loi, Sherene

Abstract

PurposePhosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) mutations are frequently observed in primary breast cancer. We evaluated their prognostic relevance by performing a pooled analysis of individual patient data.Patients and MethodsAssociations between PIK3CA status and clinicopathologic characteristics were tested by applying Cox regression models adjusted for age, tumor size, nodes, grade, estrogen receptor (ER) status, human epidermal growth factor receptor 2 (HER2) status, treatment, and study. Invasive disease-free survival (IDFS) was the primary end point; distant disease-free survival (DDFS) and overall survival (OS) were also assessed, overall and by breast cancer subtypes.ResultsData from 10,319 patients from 19 studies were included (median OS follow-up, 6.9 years); 1,787 patients (17%) received chemotherapy, 4,036 (39%) received endocrine monotherapy, 3,583 (35%) received both, and 913 (9%) received none or their treatment was unknown. PIK3CA mutations occurred in 32% of patients, with significant associations with ER positivity, increasing age, lower grade, and smaller size (all P amp;lt; .001). Prevalence of PIK3CA mutations was 18%, 22%, and 37% in the ER-negative/HER2-negative, HER2-positive, and ER-positive/HER2-negative subtypes, respectively. In univariable analysis, PIK3CA mutations were associated with better IDFS (HR, 0.77; 95% CI, 0.71 to 0.84; P amp;lt; .001), with evidence for a stronger effect in the first years of follow-up (0 to 5 years: HR, 0.73; 95% CI, 0.66 to 0.81; P amp;lt; .001; 5 to 10 years: HR, 0.82; 95% CI, 0.68 to 0.99; P = .037); amp;gt; 10 years: (HR, 1.15; 95% CI, 0.84 to 1.58; P = .38; P heterogeneity = .02). In multivariable analysis, PIK3CA genotype remained significant for improved IDFS (P = .043), but not for the DDFS and OS end points.ConclusionIn this large pooled analysis, PIK3CA mutations were significantly associated with a better IDFS, DDFS, and OS, but had a lesser prognostic eff, Funding Agencies|Cancer Council Victoria; National Health and Medical Research Council of Australia; National Breast Cancer Foundation, Australia; Breast Cancer Research Foundation, New York; Fonds de la Recherche Scientifique; Ontario Institute for Cancer Research; Government of Ontario; Trentino Biomolecular Oncologic Network (Trebionet) project; Swedish Research Council; Swedish Cancer Society

Published
2018
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38. Tumor PIK3CA genotype and prognosis in early-stage breast cancer: A pooled analysis of individual patient data

Author

Zardavas, Dimitros, Moynahan, Mary Ellen, Hennessy, Bryan B.T., Bieche, Ivan, Saal, Lao L.H., Stal, Olle, Iacopetta, Barry, Jensen, Jeanette Dupont, O'Toole, Sandra A, Lopez-Knowles, Elena, Barbaraeschi, Mattia, Te Marvelde, Luc, Noguchi, Shinzaburo, Abdel Azim, Hatem Hamdy, Lerma, Enrique, Bachelot, Thomas, Wang, Qing, Perez-Tenorio, Gizeh, Can De Velde, Cornelis C.J.H., Rea, Daniel William, Sabine, Vicky S, Bartlett, John, Milne, Roger R.L., Sotiriou, Christos, Michiels, Stefan, Loi, Sherene, Fumagalli, Debora, Fountzilas, George, Kotoula, Vassiliki, Razis, Evangelia, Papaxoinis, George, Joensuu, Heikki, Zardavas, Dimitros, Moynahan, Mary Ellen, Hennessy, Bryan B.T., Bieche, Ivan, Saal, Lao L.H., Stal, Olle, Iacopetta, Barry, Jensen, Jeanette Dupont, O'Toole, Sandra A, Lopez-Knowles, Elena, Barbaraeschi, Mattia, Te Marvelde, Luc, Noguchi, Shinzaburo, Abdel Azim, Hatem Hamdy, Lerma, Enrique, Bachelot, Thomas, Wang, Qing, Perez-Tenorio, Gizeh, Can De Velde, Cornelis C.J.H., Rea, Daniel William, Sabine, Vicky S, Bartlett, John, Milne, Roger R.L., Sotiriou, Christos, Michiels, Stefan, Loi, Sherene, Fumagalli, Debora, Fountzilas, George, Kotoula, Vassiliki, Razis, Evangelia, Papaxoinis, George, and Joensuu, Heikki

Abstract

Purpose Phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) mutations are frequently observed in primary breast cancer. We evaluated their prognostic relevance by performing a pooled analysis of individual patient data. Patients and Methods Associations between PIK3CA status and clinicopathologic characteristics were tested by applying Cox regression models adjusted for age, tumor size, nodes, grade, estrogen receptor (ER) status, human epidermal growth factor receptor 2 (HER2) status, treatment, and study. Invasive disease-free survival (IDFS) was the primary end point; distant disease-free survival (DDFS) and overall survival (OS) were also assessed, overall and by breast cancer subtypes. Results Data from 10,319 patients from 19 studies were included (median OS follow-up, 6.9 years); 1,787 patients (17%) received chemotherapy, 4,036 (39%) received endocrine monotherapy, 3,583 (35%) received both, and 913 (9%) received none or their treatment was unknown. PIK3CA mutations occurred in 32% of patients, with significant associations with ER positivity, increasing age, lower grade, and smaller size (all P, 001). Prevalence of PIK3CA mutations was 18%, 22%, and 37% in the ER-negative/HER2-negative, HER2-positive, and ER-positive/HER2-negative subtypes, respectively. In univariable analysis, PIK3CA mutations were associated with better IDFS (HR, 0.77; 95% CI, 0.71 to 0.84; P, 001), with evidence for a stronger effect in the first years of follow-up (0 to 5 years: HR, 0.73; 95% CI, 0.66 to 0.81; P, 001; 5 to 10 years: HR, 0.82; 95% CI, 0.68 to 0.99; P = .037); 10 years: (HR, 1.15; 95% CI, 0.84 to 1.58; P = .38; P heterogeneity = .02). In multivariable analysis, PIK3CA genotype remained significant for improved IDFS (P = .043), but not for the DDFS and OS end points. Conclusion In this large pooled analysis, PIK3CA mutations were significantly associated with a better IDFS, DDFS, and OS, but had a lesser prognostic effect after adjustment for, SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2018

39. Impact of a panel of 88 single nucleotide polymorphisms on the risk of breast cancer in high-risk women:Results from two randomized tamoxifen prevention trials

Author

Cuzick, Jack, Brentnall, Adam R., Segal, Corrinne, Byers, Helen, Reuter, Caroline, Detre, Simone, Lopez-Knowles, Elena, Sestak, Ivana, Howell, Anthony, Powles, Trevor J., Newman, William G., and Dowsett, Mitchell

Subjects
Tamoxifen, Manchester Cancer Research Centre, ResearchInstitutes_Networks_Beacons/mcrc, Breast Cancer, Humans, Breast Neoplasms, Female, ORIGINAL REPORTS, Breast, Polymorphism, Single Nucleotide, Risk Assessment
Abstract

Purpose At least 94 common single nucleotide polymorphisms (SNPs) are associated with breast cancer. The extent to which an SNP panel can refine risk in women who receive preventive therapy has not been directly assessed previously. Materials and Methods A risk score on the basis of 88 SNPs (SNP88) was investigated in a nested case-control study of women enrolled in the International Breast Intervention Study (IBIS-I) or the Royal Marsden study. A total of 359 women who developed cancer were matched to 636 controls by age, trial, follow-up time, and treatment arm. Genotyping was done using the OncoArray. Conditional logistic regression and matched concordance indices (mC) were used to measure the performance of SNP88 alone and with other breast cancer risk factors assessed using the Tyrer-Cuzick (TC) model. Results SNP88 was predictive of breast cancer risk overall (interquartile range odds ratio [IQ-OR], 1.37; 95% CI, 1.14 to 1.66; mC, 0.55), but mainly for estrogen receptor-positive disease (IQ-OR, 1.44; 95% CI, 1.16 to 1.79; P for heterogeneity = .10) versus estrogen receptor-negative disease. However, the observed risk of SNP88 was only 46% (95% CI, 19% to 74%) of expected. No significant interaction was observed with treatment arm (placebo IQ-OR, 1.46; 95% CI, 1.13 to 1.87; tamoxifen IQ-OR, 1.25; 95% CI, 0.96 to 1.64; P for heterogeneity = .5). The predictive power was similar to the TC model (IQ-OR, 1.45; 95% CI, 1.21 to 1.73; mC, 0.55), but SNP88 was independent of TC (Spearman rank-order correlation, 0.012; P = .7), and when combined multiplicatively, a substantial improvement was seen (IQ-OR, 1.64; 95% CI, 1.36 to 1.97; mC, 0.60). Conclusion A polygenic risk score may be used to refine risk from the TC or similar models in women who are at an elevated risk of breast cancer and considering preventive therapy. Recalibration may be necessary for accurate risk assessment.

Published
2017

40. Tumor PIK3CA Genotype and Prognosis in Early-Stage Breast Cancer: A Pooled Analysis of Individual Patient Data

Author

Zardavas, Dimitrios, primary, te Marvelde, Luc, additional, Milne, Roger L., additional, Fumagalli, Debora, additional, Fountzilas, George, additional, Kotoula, Vassiliki, additional, Razis, Evangelia, additional, Papaxoinis, George, additional, Joensuu, Heikki, additional, Moynahan, Mary Ellen, additional, Hennessy, Bryan T., additional, Bieche, Ivan, additional, Saal, Lao H., additional, Stal, Olle, additional, Iacopetta, Barry, additional, Jensen, Jeanette Dupont, additional, O’Toole, Sandra, additional, Lopez-Knowles, Elena, additional, Barbaraeschi, Mattia, additional, Noguchi, Shinzaburo, additional, Azim, Hatem A., additional, Lerma, Enrique, additional, Bachelot, Thomas, additional, Wang, Qing, additional, Perez-Tenorio, Gizeh, additional, can de Velde, Cornelis J.H., additional, Rea, Daniel W., additional, Sabine, Vicky, additional, Bartlett, John M.S., additional, Sotiriou, Christos, additional, Michiels, Stefan, additional, and Loi, Sherene, additional

Published
2018
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41. Impact of a Panel of 88 Single Nucleotide Polymorphisms on the Risk of Breast Cancer in High-Risk Women: Results From Two Randomized Tamoxifen Prevention Trials

Author

Cuzick, Jack, primary, Brentnall, Adam R., additional, Segal, Corrinne, additional, Byers, Helen, additional, Reuter, Caroline, additional, Detre, Simone, additional, Lopez-Knowles, Elena, additional, Sestak, Ivana, additional, Howell, Anthony, additional, Powles, Trevor J., additional, Newman, William G., additional, and Dowsett, Mitchell, additional

Published
2017
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42. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

Author

Dunning, Alison M., Michailidou, Kyriaki, Kuchenbaecker, Karoline B., Thompson, Deborah, French, Juliet D., Beesley, Jonathan, Healey, Catherine S., Kar, Siddhartha, Pooley, Karen A., Lopez-Knowles, Elena, Dicks, Ed, Barrowdale, Daniel, Sinnott-Armstrong, Nicholas A., Sallari, Richard C., Hillman, Kristine M., Kaufmann, Susanne, Sivakumaran, Haran, Marjaneh, Mahdi Moradi, Lee, Jason S., Hills, Margaret, Jarosz, Monika, Drury, Suzie, Canisius, Sander, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Hopper, John L., Southey, Melissa C., Broeks, Annegien, Schmidt, Marjanka K., Lophatananon, Artitaya, Muir, Kenneth, Beckmann, Matthias W., Fasching, Peter A., dos-Santos-Silva, Isabel, Peto, Julian, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal, Truong, Therese, Bojesen, Stig E., Flyger, Henrik, Gonzalez-Neira, Anna, Perez, Jose I. A., Anton-Culver, Hoda, Eunjung, Lee, Arndt, Volker, Brenner, Hermann, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Hamann, Ute, Aittomaki, Kristiina, Blomqvist, Carl, Ito, Hidemi, Matsuo, Keitaro, Bogdanova, Natasha, Dork, Thilo, Lindblom, Annika, Margolin, Sara, Kosma, Veli-Matti, Mannermaa, Arto, Tseng, Chiu-chen, Wu, Anna H., Lambrechts, Diether, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Peterlongo, Paolo, Radice, Paolo, Olson, Janet E., Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Henderson, Brian E., Goldberg, Mark S., Teo, Soo H., Yip, Cheng Har, Nord, Silje, Borresen-Dale, Anne-Lise, Kristensen, Vessela, Long, Jirong, Zheng, Wei, Pylkas, Katri, Winqvist, Robert, Andrulis, Irene L., Knight, Julia A., Devilee, Peter, Seynaeve, Caroline, Figueroa, Jonine, Sherman, Mark E., Czene, Kamila, Darabi, Hatef, Hollestelle, Antoinette, van den Ouweland, Ans M. W., Humphreys, Keith, Gao, Yu-Tang, Shu, Xiao-Ou, Cox, Angela, Cross, Simon S., Blot, William, Cai, Qiuyin, Ghoussaini, Maya, Perkins, Barbara J., Shah, Mitul, Choi, Ji-Yeob, Kang, Daehee, Lee, Soo Chin, Hartman, Mikael, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Brennan, Paul, Sangrajrang, Suleeporn, Ambrosone, Christine B., Toland, Amanda E., Shen, Chen-Yang, Wu, Pei-Ei, Orr, Nick, Swerdlow, Anthony, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Kapuscinski, Miroslav, John, Esther M., Terry, Mary Beth, Daly, Mary B., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Neuhausen, Susan L., Ejlertsen, Bent, Hansen, Thomas V. O., Osorio, Ana, Benitez, Javier, Rando, Rachel, Weitzel, Jeffrey N., Bonanni, Bernardo, Peissel, Bernard, Manoukian, Siranoush, Papi, Laura, Ottini, Laura, Konstantopoulou, Irene, Apostolou, Paraskevi, Garber, Judy, Rashid, Muhammad Usman, Frost, Debra, Izatt, Louise, Ellis, Steve, Godwin, Andrew K., Arnold, Norbert, Niederacher, Dieter, Rhiem, Kerstin, Bogdanova-Markov, Nadja, Sagne, Charlotte, Stoppa-Lyonnet, Dominique, Damiola, Francesca, Sinilnikova, Olga M., Mazoyer, Sylvie, Isaacs, Claudine, Claes, Kathleen B. M., De Leeneer, Kim, De la Hoya, Miguel, Caldes, Trinidad, Nevanlinna, Heli, Khan, Sofia, Mensenkamp, Arjen R., Hooning, Maartje J., Rookus, Matti A., Kwong, Ava, Olah, Edith, Diez, Orland, Brunet, Joan, Pujana, Miquel Angel, Gronwald, Jacek, Huzarski, Tomasz, Barkardottir, Rosa B., Laframboise, Rachel, Soucy, Penny, Montagna, Marco, Agata, Simona, Teixeira, Manuel R., Park, Sue Kyung, Lindor, Noralane, Couch, Fergus J., Tischkowitz, Marc, Foretova, Lenka, Vijai, Joseph, Offit, Kenneth, Singer, Christian F., Rappaport, Christine, Phelan, Catherine M., Greene, Mark H., Mai, Phuong L., Rennert, Gad, Imyanitov, Evgeny N., Hulick, Peter J., Phillips, Kelly-Anne, Piedmonte, Marion, Mulligan, Anna Marie, Glendon, Gord, Bojesen, Anders, Thomassen, Mads, Caligo, Maria A., Yoon, Sook-Yee, Friedman, Eitan, Laitman, Yael, Borg, Ake, Von Wachenfeldt, Anna, Ehrencrona, Hans, Rantala, Johanna, Olopade, Olufunmilayo I., Ganz, Patricia A., Nussbaum, Robert L., Gayther, Simon A., Nathanson, Katherine L., Domchek, Susan M., Arun, Banu K., Mitchell, Gillian, Karlan, Beth Y., Lester, Jenny, Maskarinec, Gertraud, Woolcott, Christy, Scott, Christopher, Stone, Jennifer, Apicella, Carmel, Tamimi, Rulla, Luben, Robert, Khaw, Kay-Tee, Helland, Aslaug, Haakensen, Vilde, Dowsett, Mitch, Pharoah, Paul D. P., Simard, Jacques, Hall, Per, Garcia-Closas, Montserrat, Vachon, Celine, Chenevix-Trench, Georgia, Antoniou, Antonis C., Easton, Douglas F., Edwards, Stacey L., Dunning, Alison M., Michailidou, Kyriaki, Kuchenbaecker, Karoline B., Thompson, Deborah, French, Juliet D., Beesley, Jonathan, Healey, Catherine S., Kar, Siddhartha, Pooley, Karen A., Lopez-Knowles, Elena, Dicks, Ed, Barrowdale, Daniel, Sinnott-Armstrong, Nicholas A., Sallari, Richard C., Hillman, Kristine M., Kaufmann, Susanne, Sivakumaran, Haran, Marjaneh, Mahdi Moradi, Lee, Jason S., Hills, Margaret, Jarosz, Monika, Drury, Suzie, Canisius, Sander, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Hopper, John L., Southey, Melissa C., Broeks, Annegien, Schmidt, Marjanka K., Lophatananon, Artitaya, Muir, Kenneth, Beckmann, Matthias W., Fasching, Peter A., dos-Santos-Silva, Isabel, Peto, Julian, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guenel, Pascal, Truong, Therese, Bojesen, Stig E., Flyger, Henrik, Gonzalez-Neira, Anna, Perez, Jose I. A., Anton-Culver, Hoda, Eunjung, Lee, Arndt, Volker, Brenner, Hermann, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Hamann, Ute, Aittomaki, Kristiina, Blomqvist, Carl, Ito, Hidemi, Matsuo, Keitaro, Bogdanova, Natasha, Dork, Thilo, Lindblom, Annika, Margolin, Sara, Kosma, Veli-Matti, Mannermaa, Arto, Tseng, Chiu-chen, Wu, Anna H., Lambrechts, Diether, Wildiers, Hans, Chang-Claude, Jenny, Rudolph, Anja, Peterlongo, Paolo, Radice, Paolo, Olson, Janet E., Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Henderson, Brian E., Goldberg, Mark S., Teo, Soo H., Yip, Cheng Har, Nord, Silje, Borresen-Dale, Anne-Lise, Kristensen, Vessela, Long, Jirong, Zheng, Wei, Pylkas, Katri, Winqvist, Robert, Andrulis, Irene L., Knight, Julia A., Devilee, Peter, Seynaeve, Caroline, Figueroa, Jonine, Sherman, Mark E., Czene, Kamila, Darabi, Hatef, Hollestelle, Antoinette, van den Ouweland, Ans M. W., Humphreys, Keith, Gao, Yu-Tang, Shu, Xiao-Ou, Cox, Angela, Cross, Simon S., Blot, William, Cai, Qiuyin, Ghoussaini, Maya, Perkins, Barbara J., Shah, Mitul, Choi, Ji-Yeob, Kang, Daehee, Lee, Soo Chin, Hartman, Mikael, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Brennan, Paul, Sangrajrang, Suleeporn, Ambrosone, Christine B., Toland, Amanda E., Shen, Chen-Yang, Wu, Pei-Ei, Orr, Nick, Swerdlow, Anthony, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Kapuscinski, Miroslav, John, Esther M., Terry, Mary Beth, Daly, Mary B., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Neuhausen, Susan L., Ejlertsen, Bent, Hansen, Thomas V. O., Osorio, Ana, Benitez, Javier, Rando, Rachel, Weitzel, Jeffrey N., Bonanni, Bernardo, Peissel, Bernard, Manoukian, Siranoush, Papi, Laura, Ottini, Laura, Konstantopoulou, Irene, Apostolou, Paraskevi, Garber, Judy, Rashid, Muhammad Usman, Frost, Debra, Izatt, Louise, Ellis, Steve, Godwin, Andrew K., Arnold, Norbert, Niederacher, Dieter, Rhiem, Kerstin, Bogdanova-Markov, Nadja, Sagne, Charlotte, Stoppa-Lyonnet, Dominique, Damiola, Francesca, Sinilnikova, Olga M., Mazoyer, Sylvie, Isaacs, Claudine, Claes, Kathleen B. M., De Leeneer, Kim, De la Hoya, Miguel, Caldes, Trinidad, Nevanlinna, Heli, Khan, Sofia, Mensenkamp, Arjen R., Hooning, Maartje J., Rookus, Matti A., Kwong, Ava, Olah, Edith, Diez, Orland, Brunet, Joan, Pujana, Miquel Angel, Gronwald, Jacek, Huzarski, Tomasz, Barkardottir, Rosa B., Laframboise, Rachel, Soucy, Penny, Montagna, Marco, Agata, Simona, Teixeira, Manuel R., Park, Sue Kyung, Lindor, Noralane, Couch, Fergus J., Tischkowitz, Marc, Foretova, Lenka, Vijai, Joseph, Offit, Kenneth, Singer, Christian F., Rappaport, Christine, Phelan, Catherine M., Greene, Mark H., Mai, Phuong L., Rennert, Gad, Imyanitov, Evgeny N., Hulick, Peter J., Phillips, Kelly-Anne, Piedmonte, Marion, Mulligan, Anna Marie, Glendon, Gord, Bojesen, Anders, Thomassen, Mads, Caligo, Maria A., Yoon, Sook-Yee, Friedman, Eitan, Laitman, Yael, Borg, Ake, Von Wachenfeldt, Anna, Ehrencrona, Hans, Rantala, Johanna, Olopade, Olufunmilayo I., Ganz, Patricia A., Nussbaum, Robert L., Gayther, Simon A., Nathanson, Katherine L., Domchek, Susan M., Arun, Banu K., Mitchell, Gillian, Karlan, Beth Y., Lester, Jenny, Maskarinec, Gertraud, Woolcott, Christy, Scott, Christopher, Stone, Jennifer, Apicella, Carmel, Tamimi, Rulla, Luben, Robert, Khaw, Kay-Tee, Helland, Aslaug, Haakensen, Vilde, Dowsett, Mitch, Pharoah, Paul D. P., Simard, Jacques, Hall, Per, Garcia-Closas, Montserrat, Vachon, Celine, Chenevix-Trench, Georgia, Antoniou, Antonis C., Easton, Douglas F., and Edwards, Stacey L.

Abstract

We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor a) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER+ or ER-) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER-tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression., Funding: We thank all the individuals who took part in these studies and all the researchers, clinicians, technicians and administrative staff who have enabled this work to be carried out. This study would not have been possible without the contributions of the following: A. Berchuck (OCAC), R.A. Eeles, A. A. Al Olama, Z. Kote-Jarai and S. Benlloch (PRACTICAL), C. Luccarini and the staff of the Centre for Genetic Epidemiology Laboratory, the staff of the CNIO genotyping unit, D.C. Tessier, F. Bacot, D. Vincent, S. LaBoissiere, F. Robidoux and the staff of the McGill University and Genome Quebec Innovation Centre, S. F. Nielsen, B.G. Nordestgaard and the staff of the Copenhagen DNA laboratory, and J.M. Cunningham, S. A. Windebank, C. A. Hilker, J. Meyer and the staff of the Mayo Clinic Genotyping Core Facility. Normal human tissues from the Susan G. Komen for the Cure Tissue Bank at the Indiana University Simon Cancer Center (Indianapolis) were used in this study. We thank the contributors, including Indiana University who collected samples used in this study, as well as the donors and their families, whose help and participation made this work possible. We also acknowledge National Institute for Health Research (NIHR) support to the Royal Marsden Biomedical Research Centre. Funding for the iCOGS infrastructure came from the European Community's Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692 and C8197/A16565), the US National Institutes of Health (NIH; CA128978, CA192393, CA116167, CA176785 and an NIH Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201)) and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112, the GAME-ON initiative), the US Department of Defense (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Famili

Published
2016
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43. Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy

Author

Balbas-Martinez, Cristina Sagrera, Ana Carrillo-de-Santa-Pau, Enrique Earl, Julie Marquez, Mirari Vazquez, Miguel and Lapi, Eleonora Castro-Giner, Francesc Beltran, Sergi Bayes, Monica Carrato, Alfredo Cigudosa, Juan C. Dominguez, Orlando and Gut, Marta Herranz, Jesus Juanpere, Nuria Kogevinas, Manolis Langa, Xavier Lopez-Knowles, Elena Lorente, Jose A. and Lloreta, Josep Pisano, David G. Richart, Laia Rico, Daniel Salgado, Rocio N. Tardon, Adonina Chanock, Stephen and Heath, Simon Valencia, Alfonso Losada, Ana Gut, Ivo and Malats, Nuria Real, Francisco X.

Abstract

Urothelial bladder cancer (UBC) is heterogeneous at the clinical, pathological and genetic levels. Tumor invasiveness (T) and grade (G) are the main factors associated with outcome and determine patient management(1). A discovery exome sequencing screen (n = 17), followed by a prevalence screen (n = 60), identified new genes mutated in this tumor coding for proteins involved in chromatin modification (MLL2, ASXL2 and BPTF), cell division (STAG2, SMC1A and SMC1B) and DNA repair (ATM, ERCC2 and FANCA). STAG2, a subunit of cohesin, was significantly and commonly mutated or lost in UBC, mainly in tumors of low stage or grade, and its loss was associated with improved outcome. Loss of expression was often observed in chromosomally stable tumors, and STAG2 knockdown in bladder cancer cells did not increase aneuploidy. STAG2 reintroduction in non-expressing cells led to reduced colony formation. Our findings indicate that STAG2 is a new UBC tumor suppressor acting through mechanisms that are different from its role in preventing aneuploidy.

Published
2013

44. Tumor PIK3CAG enotype and Prognosis in Early-Stage Breast Cancer: A Pooled Analysis of Individual Patient Data.

Author

Zardavas, Dimitrios, te Marvelde, Luc, Milne, Roger L., Fumagalli, Debora, Fountzilas, George, Kotoula, Vassiliki, Razis, Evangelia, Papaxoinis, George, Joensuu, Heikki, Moynahan, Mary Ellen, Hennessy, Bryan T., Bieche, Ivan, Saal, Lao H., Stal, Olle, Iacopetta, Barry, Jensen, Jeanette Dupont, O’Toole, Sandra, Lopez-Knowles, Elena, Barbaraeschi, Mattia, and Noguchi, Shinzaburo

Published
2018
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45. Analysis of ESR1 mutation in circulating tumor DNA demonstrates evolution during therapy for metastatic breast cancer

Author

Schiavon, Gaia, primary, Hrebien, Sarah, additional, Garcia-Murillas, Isaac, additional, Cutts, Rosalind J., additional, Pearson, Alex, additional, Tarazona, Noelia, additional, Fenwick, Kerry, additional, Kozarewa, Iwanka, additional, Lopez-Knowles, Elena, additional, Ribas, Ricardo, additional, Nerurkar, Ashutosh, additional, Osin, Peter, additional, Chandarlapaty, Sarat, additional, Martin, Lesley-Ann, additional, Dowsett, Mitch, additional, Smith, Ian E., additional, and Turner, Nicholas C., additional

Published
2015
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46. Abstract 926: ESR1 mutations evolve during the treatment of metastatic breast cancer, and detection in ctDNA predicts sensitivity to subsequent hormone therapy

Author

Schiavon, Gaia, primary, Hrebien, Sarah, additional, Garcia-Murillas, Isaac, additional, Pearson, Alex, additional, Tarazona, Noelia, additional, Lopez-Knowles, Elena, additional, Ribas, Ricardo, additional, Nerurkar, Ashutosh, additional, Osin, Peter, additional, Martin, Lesley-Ann, additional, Dowsett, Mitch, additional, Smith, Ian E., additional, and Turner, Nicholas C., additional

Published
2015
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48. Prediction of Late Distant Recurrence After 5 Years of Endocrine Treatment: A Combined Analysis of Patients From the Austrian Breast and Colorectal Cancer Study Group 8 and Arimidex, Tamoxifen Alone or in Combination Randomized Trials Using the PAM50 Risk of Recurrence Score

Author

Sestak, Ivana, primary, Cuzick, Jack, additional, Dowsett, Mitch, additional, Lopez-Knowles, Elena, additional, Filipits, Martin, additional, Dubsky, Peter, additional, Cowens, John Wayne, additional, Ferree, Sean, additional, Schaper, Carl, additional, Fesl, Christian, additional, and Gnant, Michael, additional

Published
2015
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50. β-Catenin Signaling Is a Critical Event in ErbB2-Mediated Mammary Tumor Progression

Author

Schade, Babette, primary, Lesurf, Robert, additional, Sanguin-Gendreau, Virginie, additional, Bui, Tung, additional, Deblois, Geneviève, additional, O'Toole, Sandra A., additional, Millar, Ewan K.A., additional, Zardawi, Sara J., additional, Lopez-Knowles, Elena, additional, Sutherland, Robert L., additional, Giguère, Vincent, additional, Kahn, Michael, additional, Hallett, Michael, additional, and Muller, William J., additional

Published
2013
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