Author: "Heikkinen, Tuomas" / Publisher: klinisk patologi och klinisk genetik - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Heikkinen, Tuomas"' showing total 15 results

Start Over Author "Heikkinen, Tuomas" Publisher klinisk patologi och klinisk genetik

15 results on '"Heikkinen, Tuomas"'

1. Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Author: Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schuermann, Peter, H. Karstens, Johann, Hillemanns, Peter, J. Couch, Fergus, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, W. R. Reed, Malcolm, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, K. Schmidt, Marjanka, J. Van t Veer, Laura, M. Braaf, Linde, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, C. Southey, Melissa, L. Hopper, John, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, L. Andrulis, Irene, Bogdanova, Natalia, Antonenkova, Natalia, I. Rogov, Juri, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, J. van Asperen, Christi, A. E. M. Tollenaar, Robert, J. Hooning, Maartje, Devilee, Peter, Margolin, Sara, Lindblom, Annika, L. Milne, Roger, Ignacio Arias, Jose, Pilar Zamora, M., Benitez, Javier, Severi, Gianluca, Baglietto, Laura, G. Giles, Graham, B. Spurdle, Amanda, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, A. Agnarsson, Bjarni, A. Caligo, Maria, K. Godwin, Andrew, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, L. Nathanson, Katherine, M. Domchek, Susan, Loman, Niklas, Karlsson, Per, Stenmark Askmalm, Marie, Melin, Beatrice, von Wachenfeldt, Anna, B. L. Hogervorst, Frans, Verheus, Martijn, A. Rookus, Matti, Seynaeve, Caroline, A. Oldenburg, Rogier, J. Ligtenberg, Marjolijn, G. E. M. Ausems, Margreet, M. Aalfs, Cora, J. P. Gille, Hans, T. Wijnen, Juul, B. Gomez Garcia, Encarna, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Gareth Evans, D., Eeles, Rosalind, Gold, Bert, D. P. Pharoah, Paul, Offit, Kenneth, Chenevix-Trench, Georgia, F. Easton, Douglas, Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schuermann, Peter, H. Karstens, Johann, Hillemanns, Peter, J. Couch, Fergus, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, W. R. Reed, Malcolm, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, K. Schmidt, Marjanka, J. Van t Veer, Laura, M. Braaf, Linde, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, C. Southey, Melissa, L. Hopper, John, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, L. Andrulis, Irene, Bogdanova, Natalia, Antonenkova, Natalia, I. Rogov, Juri, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, J. van Asperen, Christi, A. E. M. Tollenaar, Robert, J. Hooning, Maartje, Devilee, Peter, Margolin, Sara, Lindblom, Annika, L. Milne, Roger, Ignacio Arias, Jose, Pilar Zamora, M., Benitez, Javier, Severi, Gianluca, Baglietto, Laura, G. Giles, Graham, B. Spurdle, Amanda, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, A. Agnarsson, Bjarni, A. Caligo, Maria, K. Godwin, Andrew, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, L. Nathanson, Katherine, M. Domchek, Susan, Loman, Niklas, Karlsson, Per, Stenmark Askmalm, Marie, Melin, Beatrice, von Wachenfeldt, Anna, B. L. Hogervorst, Frans, Verheus, Martijn, A. Rookus, Matti, Seynaeve, Caroline, A. Oldenburg, Rogier, J. Ligtenberg, Marjolijn, G. E. M. Ausems, Margreet, M. Aalfs, Cora, J. P. Gille, Hans, T. Wijnen, Juul, B. Gomez Garcia, Encarna, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Gareth Evans, D., Eeles, Rosalind, Gold, Bert, D. P. Pharoah, Paul, Offit, Kenneth, Chenevix-Trench, Georgia, and F. Easton, Douglas
Abstract: Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I-2 = 49.3%; p = less than0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95% CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
Published: 2012
Full Text: View/download PDF

2. Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Author: Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schuermann, Peter, H. Karstens, Johann, Hillemanns, Peter, J. Couch, Fergus, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, W. R. Reed, Malcolm, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, K. Schmidt, Marjanka, J. Van t Veer, Laura, M. Braaf, Linde, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, C. Southey, Melissa, L. Hopper, John, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, L. Andrulis, Irene, Bogdanova, Natalia, Antonenkova, Natalia, I. Rogov, Juri, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, J. van Asperen, Christi, A. E. M. Tollenaar, Robert, J. Hooning, Maartje, Devilee, Peter, Margolin, Sara, Lindblom, Annika, L. Milne, Roger, Ignacio Arias, Jose, Pilar Zamora, M., Benitez, Javier, Severi, Gianluca, Baglietto, Laura, G. Giles, Graham, B. Spurdle, Amanda, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, A. Agnarsson, Bjarni, A. Caligo, Maria, K. Godwin, Andrew, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, L. Nathanson, Katherine, M. Domchek, Susan, Loman, Niklas, Karlsson, Per, Stenmark Askmalm, Marie, Melin, Beatrice, von Wachenfeldt, Anna, B. L. Hogervorst, Frans, Verheus, Martijn, A. Rookus, Matti, Seynaeve, Caroline, A. Oldenburg, Rogier, J. Ligtenberg, Marjolijn, G. E. M. Ausems, Margreet, M. Aalfs, Cora, J. P. Gille, Hans, T. Wijnen, Juul, B. Gomez Garcia, Encarna, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Gareth Evans, D., Eeles, Rosalind, Gold, Bert, D. P. Pharoah, Paul, Offit, Kenneth, Chenevix-Trench, Georgia, F. Easton, Douglas, Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schuermann, Peter, H. Karstens, Johann, Hillemanns, Peter, J. Couch, Fergus, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, W. R. Reed, Malcolm, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, K. Schmidt, Marjanka, J. Van t Veer, Laura, M. Braaf, Linde, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, C. Southey, Melissa, L. Hopper, John, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, L. Andrulis, Irene, Bogdanova, Natalia, Antonenkova, Natalia, I. Rogov, Juri, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, J. van Asperen, Christi, A. E. M. Tollenaar, Robert, J. Hooning, Maartje, Devilee, Peter, Margolin, Sara, Lindblom, Annika, L. Milne, Roger, Ignacio Arias, Jose, Pilar Zamora, M., Benitez, Javier, Severi, Gianluca, Baglietto, Laura, G. Giles, Graham, B. Spurdle, Amanda, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, A. Agnarsson, Bjarni, A. Caligo, Maria, K. Godwin, Andrew, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, L. Nathanson, Katherine, M. Domchek, Susan, Loman, Niklas, Karlsson, Per, Stenmark Askmalm, Marie, Melin, Beatrice, von Wachenfeldt, Anna, B. L. Hogervorst, Frans, Verheus, Martijn, A. Rookus, Matti, Seynaeve, Caroline, A. Oldenburg, Rogier, J. Ligtenberg, Marjolijn, G. E. M. Ausems, Margreet, M. Aalfs, Cora, J. P. Gille, Hans, T. Wijnen, Juul, B. Gomez Garcia, Encarna, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Gareth Evans, D., Eeles, Rosalind, Gold, Bert, D. P. Pharoah, Paul, Offit, Kenneth, Chenevix-Trench, Georgia, and F. Easton, Douglas
Abstract: Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I-2 = 49.3%; p = less than0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95% CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
Published: 2012
Full Text: View/download PDF

3. Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Author: Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schuermann, Peter, H. Karstens, Johann, Hillemanns, Peter, J. Couch, Fergus, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, W. R. Reed, Malcolm, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, K. Schmidt, Marjanka, J. Van t Veer, Laura, M. Braaf, Linde, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, C. Southey, Melissa, L. Hopper, John, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, L. Andrulis, Irene, Bogdanova, Natalia, Antonenkova, Natalia, I. Rogov, Juri, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, J. van Asperen, Christi, A. E. M. Tollenaar, Robert, J. Hooning, Maartje, Devilee, Peter, Margolin, Sara, Lindblom, Annika, L. Milne, Roger, Ignacio Arias, Jose, Pilar Zamora, M., Benitez, Javier, Severi, Gianluca, Baglietto, Laura, G. Giles, Graham, B. Spurdle, Amanda, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, A. Agnarsson, Bjarni, A. Caligo, Maria, K. Godwin, Andrew, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, L. Nathanson, Katherine, M. Domchek, Susan, Loman, Niklas, Karlsson, Per, Stenmark Askmalm, Marie, Melin, Beatrice, von Wachenfeldt, Anna, B. L. Hogervorst, Frans, Verheus, Martijn, A. Rookus, Matti, Seynaeve, Caroline, A. Oldenburg, Rogier, J. Ligtenberg, Marjolijn, G. E. M. Ausems, Margreet, M. Aalfs, Cora, J. P. Gille, Hans, T. Wijnen, Juul, B. Gomez Garcia, Encarna, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Gareth Evans, D., Eeles, Rosalind, Gold, Bert, D. P. Pharoah, Paul, Offit, Kenneth, Chenevix-Trench, Georgia, F. Easton, Douglas, Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schuermann, Peter, H. Karstens, Johann, Hillemanns, Peter, J. Couch, Fergus, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, W. R. Reed, Malcolm, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, K. Schmidt, Marjanka, J. Van t Veer, Laura, M. Braaf, Linde, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, C. Southey, Melissa, L. Hopper, John, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, L. Andrulis, Irene, Bogdanova, Natalia, Antonenkova, Natalia, I. Rogov, Juri, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, J. van Asperen, Christi, A. E. M. Tollenaar, Robert, J. Hooning, Maartje, Devilee, Peter, Margolin, Sara, Lindblom, Annika, L. Milne, Roger, Ignacio Arias, Jose, Pilar Zamora, M., Benitez, Javier, Severi, Gianluca, Baglietto, Laura, G. Giles, Graham, B. Spurdle, Amanda, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, A. Agnarsson, Bjarni, A. Caligo, Maria, K. Godwin, Andrew, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, L. Nathanson, Katherine, M. Domchek, Susan, Loman, Niklas, Karlsson, Per, Stenmark Askmalm, Marie, Melin, Beatrice, von Wachenfeldt, Anna, B. L. Hogervorst, Frans, Verheus, Martijn, A. Rookus, Matti, Seynaeve, Caroline, A. Oldenburg, Rogier, J. Ligtenberg, Marjolijn, G. E. M. Ausems, Margreet, M. Aalfs, Cora, J. P. Gille, Hans, T. Wijnen, Juul, B. Gomez Garcia, Encarna, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Gareth Evans, D., Eeles, Rosalind, Gold, Bert, D. P. Pharoah, Paul, Offit, Kenneth, Chenevix-Trench, Georgia, and F. Easton, Douglas
Abstract: Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I-2 = 49.3%; p = less than0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95% CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
Published: 2012
Full Text: View/download PDF

4. Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Author: Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schuermann, Peter, H. Karstens, Johann, Hillemanns, Peter, J. Couch, Fergus, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, W. R. Reed, Malcolm, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, K. Schmidt, Marjanka, J. Van t Veer, Laura, M. Braaf, Linde, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, C. Southey, Melissa, L. Hopper, John, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, L. Andrulis, Irene, Bogdanova, Natalia, Antonenkova, Natalia, I. Rogov, Juri, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, J. van Asperen, Christi, A. E. M. Tollenaar, Robert, J. Hooning, Maartje, Devilee, Peter, Margolin, Sara, Lindblom, Annika, L. Milne, Roger, Ignacio Arias, Jose, Pilar Zamora, M., Benitez, Javier, Severi, Gianluca, Baglietto, Laura, G. Giles, Graham, B. Spurdle, Amanda, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, A. Agnarsson, Bjarni, A. Caligo, Maria, K. Godwin, Andrew, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, L. Nathanson, Katherine, M. Domchek, Susan, Loman, Niklas, Karlsson, Per, Stenmark Askmalm, Marie, Melin, Beatrice, von Wachenfeldt, Anna, B. L. Hogervorst, Frans, Verheus, Martijn, A. Rookus, Matti, Seynaeve, Caroline, A. Oldenburg, Rogier, J. Ligtenberg, Marjolijn, G. E. M. Ausems, Margreet, M. Aalfs, Cora, J. P. Gille, Hans, T. Wijnen, Juul, B. Gomez Garcia, Encarna, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Gareth Evans, D., Eeles, Rosalind, Gold, Bert, D. P. Pharoah, Paul, Offit, Kenneth, Chenevix-Trench, Georgia, F. Easton, Douglas, Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schuermann, Peter, H. Karstens, Johann, Hillemanns, Peter, J. Couch, Fergus, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, W. R. Reed, Malcolm, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, K. Schmidt, Marjanka, J. Van t Veer, Laura, M. Braaf, Linde, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, C. Southey, Melissa, L. Hopper, John, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, L. Andrulis, Irene, Bogdanova, Natalia, Antonenkova, Natalia, I. Rogov, Juri, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, J. van Asperen, Christi, A. E. M. Tollenaar, Robert, J. Hooning, Maartje, Devilee, Peter, Margolin, Sara, Lindblom, Annika, L. Milne, Roger, Ignacio Arias, Jose, Pilar Zamora, M., Benitez, Javier, Severi, Gianluca, Baglietto, Laura, G. Giles, Graham, B. Spurdle, Amanda, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, A. Agnarsson, Bjarni, A. Caligo, Maria, K. Godwin, Andrew, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, L. Nathanson, Katherine, M. Domchek, Susan, Loman, Niklas, Karlsson, Per, Stenmark Askmalm, Marie, Melin, Beatrice, von Wachenfeldt, Anna, B. L. Hogervorst, Frans, Verheus, Martijn, A. Rookus, Matti, Seynaeve, Caroline, A. Oldenburg, Rogier, J. Ligtenberg, Marjolijn, G. E. M. Ausems, Margreet, M. Aalfs, Cora, J. P. Gille, Hans, T. Wijnen, Juul, B. Gomez Garcia, Encarna, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Gareth Evans, D., Eeles, Rosalind, Gold, Bert, D. P. Pharoah, Paul, Offit, Kenneth, Chenevix-Trench, Georgia, and F. Easton, Douglas
Abstract: Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I-2 = 49.3%; p = less than0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95% CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
Published: 2012
Full Text: View/download PDF

5. Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Author: Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schuermann, Peter, H. Karstens, Johann, Hillemanns, Peter, J. Couch, Fergus, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, W. R. Reed, Malcolm, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, K. Schmidt, Marjanka, J. Van t Veer, Laura, M. Braaf, Linde, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, C. Southey, Melissa, L. Hopper, John, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, L. Andrulis, Irene, Bogdanova, Natalia, Antonenkova, Natalia, I. Rogov, Juri, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, J. van Asperen, Christi, A. E. M. Tollenaar, Robert, J. Hooning, Maartje, Devilee, Peter, Margolin, Sara, Lindblom, Annika, L. Milne, Roger, Ignacio Arias, Jose, Pilar Zamora, M., Benitez, Javier, Severi, Gianluca, Baglietto, Laura, G. Giles, Graham, B. Spurdle, Amanda, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, A. Agnarsson, Bjarni, A. Caligo, Maria, K. Godwin, Andrew, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, L. Nathanson, Katherine, M. Domchek, Susan, Loman, Niklas, Karlsson, Per, Stenmark Askmalm, Marie, Melin, Beatrice, von Wachenfeldt, Anna, B. L. Hogervorst, Frans, Verheus, Martijn, A. Rookus, Matti, Seynaeve, Caroline, A. Oldenburg, Rogier, J. Ligtenberg, Marjolijn, G. E. M. Ausems, Margreet, M. Aalfs, Cora, J. P. Gille, Hans, T. Wijnen, Juul, B. Gomez Garcia, Encarna, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Gareth Evans, D., Eeles, Rosalind, Gold, Bert, D. P. Pharoah, Paul, Offit, Kenneth, Chenevix-Trench, Georgia, F. Easton, Douglas, Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schuermann, Peter, H. Karstens, Johann, Hillemanns, Peter, J. Couch, Fergus, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, W. R. Reed, Malcolm, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, K. Schmidt, Marjanka, J. Van t Veer, Laura, M. Braaf, Linde, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, C. Southey, Melissa, L. Hopper, John, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, L. Andrulis, Irene, Bogdanova, Natalia, Antonenkova, Natalia, I. Rogov, Juri, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, J. van Asperen, Christi, A. E. M. Tollenaar, Robert, J. Hooning, Maartje, Devilee, Peter, Margolin, Sara, Lindblom, Annika, L. Milne, Roger, Ignacio Arias, Jose, Pilar Zamora, M., Benitez, Javier, Severi, Gianluca, Baglietto, Laura, G. Giles, Graham, B. Spurdle, Amanda, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, A. Agnarsson, Bjarni, A. Caligo, Maria, K. Godwin, Andrew, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, L. Nathanson, Katherine, M. Domchek, Susan, Loman, Niklas, Karlsson, Per, Stenmark Askmalm, Marie, Melin, Beatrice, von Wachenfeldt, Anna, B. L. Hogervorst, Frans, Verheus, Martijn, A. Rookus, Matti, Seynaeve, Caroline, A. Oldenburg, Rogier, J. Ligtenberg, Marjolijn, G. E. M. Ausems, Margreet, M. Aalfs, Cora, J. P. Gille, Hans, T. Wijnen, Juul, B. Gomez Garcia, Encarna, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Gareth Evans, D., Eeles, Rosalind, Gold, Bert, D. P. Pharoah, Paul, Offit, Kenneth, Chenevix-Trench, Georgia, and F. Easton, Douglas
Abstract: Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I-2 = 49.3%; p = less than0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95% CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
Published: 2012
Full Text: View/download PDF

6. Exploring the link between MORF4L1 and risk of breast cancer

Author: Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Küehl, Julia, Neveling, Kornelia, Schindler, Detlev, J. Ramirez, Maria, Castella, Maria, Hernandez, Gonzalo, F. Easton, Douglas, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Platte, Radka, Gareth Evans, D., Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, J. Morrison, Patrick, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Laura Putignano, Anna, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, A. Rookus, Matti, Verhoef, Senno, A. Tilanus-Linthorst, Madeleine, P. Vreeswijk, Maaike, J. Asperen, Christi, Bodmer, Danielle, G. E. M. Ausems, Margreet, A. van Os, Theo, J. Blok, Marinus, E. J. Meijers-Heijboer, Hanne, B. L. Hogervorst, Frans, E. Goldgar, David, Buys, Saundra, M. John, Esther, Miron, Alexander, Southey, Melissa, B. Daly, Mary, Harbst, Katja, Borg, Ake, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, M. Domchek, Susan, L. Nathanson, Katherine, R. Rebbeck, Timothy, Thor Johannsson, Oskar, J. Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, K. Pientka, Friederike, Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Adelaide Caligo, Maria, K. Godwin, Andrew, N. Imyanitov, Evgeny, Janavicius, Ramunas, M. Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, M. Pereira-Smith, Olivia, C. Antoniou, Antonis, Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, Angel Pujana, Miguel, Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Küehl, Julia, Neveling, Kornelia, Schindler, Detlev, J. Ramirez, Maria, Castella, Maria, Hernandez, Gonzalo, F. Easton, Douglas, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Platte, Radka, Gareth Evans, D., Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, J. Morrison, Patrick, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Laura Putignano, Anna, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, A. Rookus, Matti, Verhoef, Senno, A. Tilanus-Linthorst, Madeleine, P. Vreeswijk, Maaike, J. Asperen, Christi, Bodmer, Danielle, G. E. M. Ausems, Margreet, A. van Os, Theo, J. Blok, Marinus, E. J. Meijers-Heijboer, Hanne, B. L. Hogervorst, Frans, E. Goldgar, David, Buys, Saundra, M. John, Esther, Miron, Alexander, Southey, Melissa, B. Daly, Mary, Harbst, Katja, Borg, Ake, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, M. Domchek, Susan, L. Nathanson, Katherine, R. Rebbeck, Timothy, Thor Johannsson, Oskar, J. Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, K. Pientka, Friederike, Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Adelaide Caligo, Maria, K. Godwin, Andrew, N. Imyanitov, Evgeny, Janavicius, Ramunas, M. Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, M. Pereira-Smith, Olivia, C. Antoniou, Antonis, Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, and Angel Pujana, Miguel
Abstract: Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to g-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, P(trend) = 0.45 and 0.05, P(2df) = 0.51 and 0.14, respectively; and rs10519219, P(trend) =
Published: 2011
Full Text: View/download PDF

7. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, C Antoniou, Antonis, Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, and C Antoniou, Antonis
Abstract: Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. less thanbrgreater than less thanbrgreater thanMethods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. less thanbrgreater than less thanbrgreater thanResults: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 x 10(-6)). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. less thanbrgreater than less thanbrgreater thanConclusions: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of, Funding Agencies|Breast Cancer Research Foundation||MacDonald Family Foundation||Komen Foundation||NIH, NCI|P50 CA 058207|Avon Foundation||UCSF Helen Diller Family Comprehensive Cancer Center UK||CRUK||Russian Federation for Basic Research|10-04-9260110-04-9211011-04-00227|Federal Agency for Science and Innovations|02.740.11.0780|Commission of the European Communities|PITN-GA-2009-238132|Royal Society|JP090615|US National Cancer Institute||Westat, Inc., Rockville, MD||Starr Cancer Consortium||Norman and Carol Stone Genetic Research Fund||Robert and Kate Niehaus Clinical Genetics Initiative at MSKCC||NIH|CA116167CA128978|Research Excellence (SPORE) in Breast Cancer|CA116201|Ministero della Salute|RFPS 2006-5-341353ACC2/R6.9|Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab)||Icelandic Association||Landspitali University Hospital||NEYE Foundation||Deutsches Krebsforschungszentrum (DKFZ)||Associazione Italiana per la Ricerca sul Cancro|4017|Italian citizens||Fondazione Italiana per la Ricerca sul Cancro||Cancer Research UK|C12292/A11174C1287/A10118C1287/A11990C5047/A8385|NIHR||Eileen Stein Jacoby Fund||University of Kansas Cancer Center||Kansas Bioscience Authority Eminent Scholar Program||Familial Cancer Registry (CI)||Tissue Culture Shared Registry at Georgetown University (NIH/NCI)|P30-CA051008|Cancer Genetics Network|HHSN261200744000C|Swing Fore the Cure||German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) GC-HBOC||German Cancer Aid|109076|Centre of Molecular Medicine Cologne (CMMC)||Ligue National Contre le Cancer||Association for International Cancer|AICR-07-0454|Association "Le cancer du sein, parlons-en!" Award||European Community|223175 (HEALTH-F2-2009-223175)|National Cancer Institute, National Institutes of Health|RFA-CA-06-503|Liepajas municipal council|||NO2-CP-11019-50||N02-CP-65504||U01CA69631||5U01CA113916
Published: 2011
Full Text: View/download PDF

8. Exploring the link between MORF4L1 and risk of breast cancer

Author: Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Küehl, Julia, Neveling, Kornelia, Schindler, Detlev, J. Ramirez, Maria, Castella, Maria, Hernandez, Gonzalo, F. Easton, Douglas, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Platte, Radka, Gareth Evans, D., Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, J. Morrison, Patrick, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Laura Putignano, Anna, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, A. Rookus, Matti, Verhoef, Senno, A. Tilanus-Linthorst, Madeleine, P. Vreeswijk, Maaike, J. Asperen, Christi, Bodmer, Danielle, G. E. M. Ausems, Margreet, A. van Os, Theo, J. Blok, Marinus, E. J. Meijers-Heijboer, Hanne, B. L. Hogervorst, Frans, E. Goldgar, David, Buys, Saundra, M. John, Esther, Miron, Alexander, Southey, Melissa, B. Daly, Mary, Harbst, Katja, Borg, Ake, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, M. Domchek, Susan, L. Nathanson, Katherine, R. Rebbeck, Timothy, Thor Johannsson, Oskar, J. Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, K. Pientka, Friederike, Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Adelaide Caligo, Maria, K. Godwin, Andrew, N. Imyanitov, Evgeny, Janavicius, Ramunas, M. Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, M. Pereira-Smith, Olivia, C. Antoniou, Antonis, Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, Angel Pujana, Miguel, Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Küehl, Julia, Neveling, Kornelia, Schindler, Detlev, J. Ramirez, Maria, Castella, Maria, Hernandez, Gonzalo, F. Easton, Douglas, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Platte, Radka, Gareth Evans, D., Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, J. Morrison, Patrick, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Laura Putignano, Anna, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, A. Rookus, Matti, Verhoef, Senno, A. Tilanus-Linthorst, Madeleine, P. Vreeswijk, Maaike, J. Asperen, Christi, Bodmer, Danielle, G. E. M. Ausems, Margreet, A. van Os, Theo, J. Blok, Marinus, E. J. Meijers-Heijboer, Hanne, B. L. Hogervorst, Frans, E. Goldgar, David, Buys, Saundra, M. John, Esther, Miron, Alexander, Southey, Melissa, B. Daly, Mary, Harbst, Katja, Borg, Ake, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, M. Domchek, Susan, L. Nathanson, Katherine, R. Rebbeck, Timothy, Thor Johannsson, Oskar, J. Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, K. Pientka, Friederike, Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Adelaide Caligo, Maria, K. Godwin, Andrew, N. Imyanitov, Evgeny, Janavicius, Ramunas, M. Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, M. Pereira-Smith, Olivia, C. Antoniou, Antonis, Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, and Angel Pujana, Miguel
Abstract: Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to g-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, P(trend) = 0.45 and 0.05, P(2df) = 0.51 and 0.14, respectively; and rs10519219, P(trend) =
Published: 2011
Full Text: View/download PDF

9. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, C Antoniou, Antonis, Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, and C Antoniou, Antonis
Abstract: Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. less thanbrgreater than less thanbrgreater thanMethods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. less thanbrgreater than less thanbrgreater thanResults: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 x 10(-6)). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. less thanbrgreater than less thanbrgreater thanConclusions: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of, Funding Agencies|Breast Cancer Research Foundation||MacDonald Family Foundation||Komen Foundation||NIH, NCI|P50 CA 058207|Avon Foundation||UCSF Helen Diller Family Comprehensive Cancer Center UK||CRUK||Russian Federation for Basic Research|10-04-9260110-04-9211011-04-00227|Federal Agency for Science and Innovations|02.740.11.0780|Commission of the European Communities|PITN-GA-2009-238132|Royal Society|JP090615|US National Cancer Institute||Westat, Inc., Rockville, MD||Starr Cancer Consortium||Norman and Carol Stone Genetic Research Fund||Robert and Kate Niehaus Clinical Genetics Initiative at MSKCC||NIH|CA116167CA128978|Research Excellence (SPORE) in Breast Cancer|CA116201|Ministero della Salute|RFPS 2006-5-341353ACC2/R6.9|Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab)||Icelandic Association||Landspitali University Hospital||NEYE Foundation||Deutsches Krebsforschungszentrum (DKFZ)||Associazione Italiana per la Ricerca sul Cancro|4017|Italian citizens||Fondazione Italiana per la Ricerca sul Cancro||Cancer Research UK|C12292/A11174C1287/A10118C1287/A11990C5047/A8385|NIHR||Eileen Stein Jacoby Fund||University of Kansas Cancer Center||Kansas Bioscience Authority Eminent Scholar Program||Familial Cancer Registry (CI)||Tissue Culture Shared Registry at Georgetown University (NIH/NCI)|P30-CA051008|Cancer Genetics Network|HHSN261200744000C|Swing Fore the Cure||German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) GC-HBOC||German Cancer Aid|109076|Centre of Molecular Medicine Cologne (CMMC)||Ligue National Contre le Cancer||Association for International Cancer|AICR-07-0454|Association "Le cancer du sein, parlons-en!" Award||European Community|223175 (HEALTH-F2-2009-223175)|National Cancer Institute, National Institutes of Health|RFA-CA-06-503|Liepajas municipal council|||NO2-CP-11019-50||N02-CP-65504||U01CA69631||5U01CA113916
Published: 2011
Full Text: View/download PDF

10. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, C Antoniou, Antonis, Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, and C Antoniou, Antonis
Abstract: Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. less thanbrgreater than less thanbrgreater thanMethods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. less thanbrgreater than less thanbrgreater thanResults: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 x 10(-6)). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. less thanbrgreater than less thanbrgreater thanConclusions: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of, Funding Agencies|Breast Cancer Research Foundation||MacDonald Family Foundation||Komen Foundation||NIH, NCI|P50 CA 058207|Avon Foundation||UCSF Helen Diller Family Comprehensive Cancer Center UK||CRUK||Russian Federation for Basic Research|10-04-9260110-04-9211011-04-00227|Federal Agency for Science and Innovations|02.740.11.0780|Commission of the European Communities|PITN-GA-2009-238132|Royal Society|JP090615|US National Cancer Institute||Westat, Inc., Rockville, MD||Starr Cancer Consortium||Norman and Carol Stone Genetic Research Fund||Robert and Kate Niehaus Clinical Genetics Initiative at MSKCC||NIH|CA116167CA128978|Research Excellence (SPORE) in Breast Cancer|CA116201|Ministero della Salute|RFPS 2006-5-341353ACC2/R6.9|Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab)||Icelandic Association||Landspitali University Hospital||NEYE Foundation||Deutsches Krebsforschungszentrum (DKFZ)||Associazione Italiana per la Ricerca sul Cancro|4017|Italian citizens||Fondazione Italiana per la Ricerca sul Cancro||Cancer Research UK|C12292/A11174C1287/A10118C1287/A11990C5047/A8385|NIHR||Eileen Stein Jacoby Fund||University of Kansas Cancer Center||Kansas Bioscience Authority Eminent Scholar Program||Familial Cancer Registry (CI)||Tissue Culture Shared Registry at Georgetown University (NIH/NCI)|P30-CA051008|Cancer Genetics Network|HHSN261200744000C|Swing Fore the Cure||German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) GC-HBOC||German Cancer Aid|109076|Centre of Molecular Medicine Cologne (CMMC)||Ligue National Contre le Cancer||Association for International Cancer|AICR-07-0454|Association "Le cancer du sein, parlons-en!" Award||European Community|223175 (HEALTH-F2-2009-223175)|National Cancer Institute, National Institutes of Health|RFA-CA-06-503|Liepajas municipal council|||NO2-CP-11019-50||N02-CP-65504||U01CA69631||5U01CA113916
Published: 2011
Full Text: View/download PDF

11. Exploring the link between MORF4L1 and risk of breast cancer

Author: Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Küehl, Julia, Neveling, Kornelia, Schindler, Detlev, J. Ramirez, Maria, Castella, Maria, Hernandez, Gonzalo, F. Easton, Douglas, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Platte, Radka, Gareth Evans, D., Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, J. Morrison, Patrick, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Laura Putignano, Anna, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, A. Rookus, Matti, Verhoef, Senno, A. Tilanus-Linthorst, Madeleine, P. Vreeswijk, Maaike, J. Asperen, Christi, Bodmer, Danielle, G. E. M. Ausems, Margreet, A. van Os, Theo, J. Blok, Marinus, E. J. Meijers-Heijboer, Hanne, B. L. Hogervorst, Frans, E. Goldgar, David, Buys, Saundra, M. John, Esther, Miron, Alexander, Southey, Melissa, B. Daly, Mary, Harbst, Katja, Borg, Ake, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, M. Domchek, Susan, L. Nathanson, Katherine, R. Rebbeck, Timothy, Thor Johannsson, Oskar, J. Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, K. Pientka, Friederike, Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Adelaide Caligo, Maria, K. Godwin, Andrew, N. Imyanitov, Evgeny, Janavicius, Ramunas, M. Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, M. Pereira-Smith, Olivia, C. Antoniou, Antonis, Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, Angel Pujana, Miguel, Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Küehl, Julia, Neveling, Kornelia, Schindler, Detlev, J. Ramirez, Maria, Castella, Maria, Hernandez, Gonzalo, F. Easton, Douglas, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Platte, Radka, Gareth Evans, D., Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, J. Morrison, Patrick, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Laura Putignano, Anna, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, A. Rookus, Matti, Verhoef, Senno, A. Tilanus-Linthorst, Madeleine, P. Vreeswijk, Maaike, J. Asperen, Christi, Bodmer, Danielle, G. E. M. Ausems, Margreet, A. van Os, Theo, J. Blok, Marinus, E. J. Meijers-Heijboer, Hanne, B. L. Hogervorst, Frans, E. Goldgar, David, Buys, Saundra, M. John, Esther, Miron, Alexander, Southey, Melissa, B. Daly, Mary, Harbst, Katja, Borg, Ake, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, M. Domchek, Susan, L. Nathanson, Katherine, R. Rebbeck, Timothy, Thor Johannsson, Oskar, J. Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, K. Pientka, Friederike, Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Adelaide Caligo, Maria, K. Godwin, Andrew, N. Imyanitov, Evgeny, Janavicius, Ramunas, M. Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, M. Pereira-Smith, Olivia, C. Antoniou, Antonis, Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, and Angel Pujana, Miguel
Abstract: Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to g-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, P(trend) = 0.45 and 0.05, P(2df) = 0.51 and 0.14, respectively; and rs10519219, P(trend) =
Published: 2011
Full Text: View/download PDF

12. Exploring the link between MORF4L1 and risk of breast cancer

Author: Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Küehl, Julia, Neveling, Kornelia, Schindler, Detlev, J. Ramirez, Maria, Castella, Maria, Hernandez, Gonzalo, F. Easton, Douglas, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Platte, Radka, Gareth Evans, D., Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, J. Morrison, Patrick, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Laura Putignano, Anna, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, A. Rookus, Matti, Verhoef, Senno, A. Tilanus-Linthorst, Madeleine, P. Vreeswijk, Maaike, J. Asperen, Christi, Bodmer, Danielle, G. E. M. Ausems, Margreet, A. van Os, Theo, J. Blok, Marinus, E. J. Meijers-Heijboer, Hanne, B. L. Hogervorst, Frans, E. Goldgar, David, Buys, Saundra, M. John, Esther, Miron, Alexander, Southey, Melissa, B. Daly, Mary, Harbst, Katja, Borg, Ake, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, M. Domchek, Susan, L. Nathanson, Katherine, R. Rebbeck, Timothy, Thor Johannsson, Oskar, J. Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, K. Pientka, Friederike, Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Adelaide Caligo, Maria, K. Godwin, Andrew, N. Imyanitov, Evgeny, Janavicius, Ramunas, M. Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, M. Pereira-Smith, Olivia, C. Antoniou, Antonis, Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, Angel Pujana, Miguel, Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Küehl, Julia, Neveling, Kornelia, Schindler, Detlev, J. Ramirez, Maria, Castella, Maria, Hernandez, Gonzalo, F. Easton, Douglas, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Platte, Radka, Gareth Evans, D., Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, J. Morrison, Patrick, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Laura Putignano, Anna, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, A. Rookus, Matti, Verhoef, Senno, A. Tilanus-Linthorst, Madeleine, P. Vreeswijk, Maaike, J. Asperen, Christi, Bodmer, Danielle, G. E. M. Ausems, Margreet, A. van Os, Theo, J. Blok, Marinus, E. J. Meijers-Heijboer, Hanne, B. L. Hogervorst, Frans, E. Goldgar, David, Buys, Saundra, M. John, Esther, Miron, Alexander, Southey, Melissa, B. Daly, Mary, Harbst, Katja, Borg, Ake, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, M. Domchek, Susan, L. Nathanson, Katherine, R. Rebbeck, Timothy, Thor Johannsson, Oskar, J. Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, K. Pientka, Friederike, Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Adelaide Caligo, Maria, K. Godwin, Andrew, N. Imyanitov, Evgeny, Janavicius, Ramunas, M. Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, M. Pereira-Smith, Olivia, C. Antoniou, Antonis, Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, and Angel Pujana, Miguel
Abstract: Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to g-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, P(trend) = 0.45 and 0.05, P(2df) = 0.51 and 0.14, respectively; and rs10519219, P(trend) =
Published: 2011
Full Text: View/download PDF

13. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, C Antoniou, Antonis, Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, and C Antoniou, Antonis
Abstract: Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. less thanbrgreater than less thanbrgreater thanMethods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. less thanbrgreater than less thanbrgreater thanResults: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 x 10(-6)). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. less thanbrgreater than less thanbrgreater thanConclusions: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of, Funding Agencies|Breast Cancer Research Foundation||MacDonald Family Foundation||Komen Foundation||NIH, NCI|P50 CA 058207|Avon Foundation||UCSF Helen Diller Family Comprehensive Cancer Center UK||CRUK||Russian Federation for Basic Research|10-04-9260110-04-9211011-04-00227|Federal Agency for Science and Innovations|02.740.11.0780|Commission of the European Communities|PITN-GA-2009-238132|Royal Society|JP090615|US National Cancer Institute||Westat, Inc., Rockville, MD||Starr Cancer Consortium||Norman and Carol Stone Genetic Research Fund||Robert and Kate Niehaus Clinical Genetics Initiative at MSKCC||NIH|CA116167CA128978|Research Excellence (SPORE) in Breast Cancer|CA116201|Ministero della Salute|RFPS 2006-5-341353ACC2/R6.9|Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab)||Icelandic Association||Landspitali University Hospital||NEYE Foundation||Deutsches Krebsforschungszentrum (DKFZ)||Associazione Italiana per la Ricerca sul Cancro|4017|Italian citizens||Fondazione Italiana per la Ricerca sul Cancro||Cancer Research UK|C12292/A11174C1287/A10118C1287/A11990C5047/A8385|NIHR||Eileen Stein Jacoby Fund||University of Kansas Cancer Center||Kansas Bioscience Authority Eminent Scholar Program||Familial Cancer Registry (CI)||Tissue Culture Shared Registry at Georgetown University (NIH/NCI)|P30-CA051008|Cancer Genetics Network|HHSN261200744000C|Swing Fore the Cure||German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) GC-HBOC||German Cancer Aid|109076|Centre of Molecular Medicine Cologne (CMMC)||Ligue National Contre le Cancer||Association for International Cancer|AICR-07-0454|Association "Le cancer du sein, parlons-en!" Award||European Community|223175 (HEALTH-F2-2009-223175)|National Cancer Institute, National Institutes of Health|RFA-CA-06-503|Liepajas municipal council|||NO2-CP-11019-50||N02-CP-65504||U01CA69631||5U01CA113916
Published: 2011
Full Text: View/download PDF

14. Exploring the link between MORF4L1 and risk of breast cancer

Author: Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Küehl, Julia, Neveling, Kornelia, Schindler, Detlev, J. Ramirez, Maria, Castella, Maria, Hernandez, Gonzalo, F. Easton, Douglas, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Platte, Radka, Gareth Evans, D., Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, J. Morrison, Patrick, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Laura Putignano, Anna, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, A. Rookus, Matti, Verhoef, Senno, A. Tilanus-Linthorst, Madeleine, P. Vreeswijk, Maaike, J. Asperen, Christi, Bodmer, Danielle, G. E. M. Ausems, Margreet, A. van Os, Theo, J. Blok, Marinus, E. J. Meijers-Heijboer, Hanne, B. L. Hogervorst, Frans, E. Goldgar, David, Buys, Saundra, M. John, Esther, Miron, Alexander, Southey, Melissa, B. Daly, Mary, Harbst, Katja, Borg, Ake, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, M. Domchek, Susan, L. Nathanson, Katherine, R. Rebbeck, Timothy, Thor Johannsson, Oskar, J. Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, K. Pientka, Friederike, Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Adelaide Caligo, Maria, K. Godwin, Andrew, N. Imyanitov, Evgeny, Janavicius, Ramunas, M. Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, M. Pereira-Smith, Olivia, C. Antoniou, Antonis, Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, Angel Pujana, Miguel, Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Küehl, Julia, Neveling, Kornelia, Schindler, Detlev, J. Ramirez, Maria, Castella, Maria, Hernandez, Gonzalo, F. Easton, Douglas, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Platte, Radka, Gareth Evans, D., Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, J. Morrison, Patrick, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Laura Putignano, Anna, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, A. Rookus, Matti, Verhoef, Senno, A. Tilanus-Linthorst, Madeleine, P. Vreeswijk, Maaike, J. Asperen, Christi, Bodmer, Danielle, G. E. M. Ausems, Margreet, A. van Os, Theo, J. Blok, Marinus, E. J. Meijers-Heijboer, Hanne, B. L. Hogervorst, Frans, E. Goldgar, David, Buys, Saundra, M. John, Esther, Miron, Alexander, Southey, Melissa, B. Daly, Mary, Harbst, Katja, Borg, Ake, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, M. Domchek, Susan, L. Nathanson, Katherine, R. Rebbeck, Timothy, Thor Johannsson, Oskar, J. Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, K. Pientka, Friederike, Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Adelaide Caligo, Maria, K. Godwin, Andrew, N. Imyanitov, Evgeny, Janavicius, Ramunas, M. Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, M. Pereira-Smith, Olivia, C. Antoniou, Antonis, Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, and Angel Pujana, Miguel
Abstract: Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to g-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, P(trend) = 0.45 and 0.05, P(2df) = 0.51 and 0.14, respectively; and rs10519219, P(trend) =
Published: 2011
Full Text: View/download PDF

15. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, C Antoniou, Antonis, Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, and C Antoniou, Antonis
Abstract: Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. less thanbrgreater than less thanbrgreater thanMethods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. less thanbrgreater than less thanbrgreater thanResults: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 x 10(-6)). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. less thanbrgreater than less thanbrgreater thanConclusions: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of, Funding Agencies|Breast Cancer Research Foundation||MacDonald Family Foundation||Komen Foundation||NIH, NCI|P50 CA 058207|Avon Foundation||UCSF Helen Diller Family Comprehensive Cancer Center UK||CRUK||Russian Federation for Basic Research|10-04-9260110-04-9211011-04-00227|Federal Agency for Science and Innovations|02.740.11.0780|Commission of the European Communities|PITN-GA-2009-238132|Royal Society|JP090615|US National Cancer Institute||Westat, Inc., Rockville, MD||Starr Cancer Consortium||Norman and Carol Stone Genetic Research Fund||Robert and Kate Niehaus Clinical Genetics Initiative at MSKCC||NIH|CA116167CA128978|Research Excellence (SPORE) in Breast Cancer|CA116201|Ministero della Salute|RFPS 2006-5-341353ACC2/R6.9|Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab)||Icelandic Association||Landspitali University Hospital||NEYE Foundation||Deutsches Krebsforschungszentrum (DKFZ)||Associazione Italiana per la Ricerca sul Cancro|4017|Italian citizens||Fondazione Italiana per la Ricerca sul Cancro||Cancer Research UK|C12292/A11174C1287/A10118C1287/A11990C5047/A8385|NIHR||Eileen Stein Jacoby Fund||University of Kansas Cancer Center||Kansas Bioscience Authority Eminent Scholar Program||Familial Cancer Registry (CI)||Tissue Culture Shared Registry at Georgetown University (NIH/NCI)|P30-CA051008|Cancer Genetics Network|HHSN261200744000C|Swing Fore the Cure||German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) GC-HBOC||German Cancer Aid|109076|Centre of Molecular Medicine Cologne (CMMC)||Ligue National Contre le Cancer||Association for International Cancer|AICR-07-0454|Association "Le cancer du sein, parlons-en!" Award||European Community|223175 (HEALTH-F2-2009-223175)|National Cancer Institute, National Institutes of Health|RFA-CA-06-503|Liepajas municipal council|||NO2-CP-11019-50||N02-CP-65504||U01CA69631||5U01CA113916
Published: 2011
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources

Refine your results

15 results on '"Heikkinen, Tuomas"'

1. Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

2. Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

3. Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

4. Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

5. Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

6. Exploring the link between MORF4L1 and risk of breast cancer

7. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

8. Exploring the link between MORF4L1 and risk of breast cancer

9. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

10. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

11. Exploring the link between MORF4L1 and risk of breast cancer

12. Exploring the link between MORF4L1 and risk of breast cancer

13. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

14. Exploring the link between MORF4L1 and risk of breast cancer

15. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Catalog

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Publication Year Range

Publication Type

Database

Publisher

15 results on '"Heikkinen, Tuomas"'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources