Search

Your search keyword '"Common germline genetic variants"' showing total 3 results
Start Over Descriptor "Common germline genetic variants" Database OpenAIRE
3 results on '"Common germline genetic variants"'

1. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Author

Morra, Anna, Escala-Garcia, Maria, Beesley, Jonathan, Keeman, Renske, Canisius, Sander, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Auer, Paul L, Augustinsson, Annelie, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bojesen, Stig E, Bolla, Manjeet K, Brenner, Hermann, Brüning, Thomas, Buys, Saundra S, Caan, Bette, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Cheng, Ting-Yuan David, Clarke, Christine L, NBCS Collaborators, Colonna, Sarah V, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Dennis, Joe, Dörk, Thilo, Dossus, Laure, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Flyger, Henrik, Fritschi, Lin, Gago-Dominguez, Manuela, García-Sáenz, José A, Giles, Graham G, Grip, Mervi, Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N, Hartikainen, Jaana M, Hartmann, Arndt, He, Wei, Hooning, Maartje J, Hoppe, Reiner, Hopper, John L, Howell, Anthony, Hunter, David J, ABCTB Investigators, kConFab Investigators, Jager, Agnes, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey Y, Kaaks, Rudolf, Keupers, Machteld, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Linet, Martha, Luben, Robert N, Lubiński, Jan, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martens, John WM, Martinez, Maria Elena, Mavroudis, Dimitrios, Michailidou, Kyriaki, Milne, Roger L, Mulligan, Anna Marie, and Muranen, Taru A

Subjects
Oncology and Carcinogenesis, ABCTB Investigators, Breast Neoplasms, Systemic treatment, NBCS Collaborators, Clinical Research, Breast Cancer, Genetics, Humans, 2.1 Biological and endogenous factors, Oncology & Carcinogenesis, Polymorphism, Aetiology, Germ-Line Mutation, Cancer, Tumor biology, Human Genome, Single Nucleotide, Common germline genetic variants, Prognosis, Survival Analysis, kConFab Investigators, Female, Patient subgroups, Genome-Wide Association Study, Breast cancer-specific survival
Abstract

BackgroundGiven the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients.MethodsWe performed genome-wide association analyses within 15 subgroups of breast cancer patients based on prognostic factors, including hormone receptors, tumor grade, age, and type of systemic treatment. Analyses were based on 91,686 female patients of European ancestry from the Breast Cancer Association Consortium, including 7531 breast cancer-specific deaths over a median follow-up of 8.1 years. Cox regression was used to assess associations of common germline variants with 15-year and 5-year breast cancer-specific survival. We assessed the probability of these associations being true positives via the Bayesian false discovery probability (BFDP

Published
2021

2. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Author

Agnes Jager, Christopher A. Haiman, William G. Newman, Georgia Chenevix-Trench, Loic Le Marchand, Tjoung-Won Park-Simon, Eric Hahnen, Peter Kraft, Montserrat Garcia-Closas, Alison M. Dunning, Roger L. Milne, Christine L. Clarke, Wei He, Thomas Brüning, David J. Hunter, Alicja Wolk, Arto Mannermaa, William J. Tapper, Dimitrios Mavroudis, Emmanouil Saloustros, Dijana Plaseska-Karanfilska, Annelie Augustinsson, Rob A. E. M. Tollenaar, Stella Koutros, Heiko Becher, Machteld Keupers, Abctb Investigators, Esther M. John, Heli Nevanlinna, Simon S. Cross, Rita K. Schmutzler, Melanie Gündert, Elinor J. Sawyer, Anna Morra, Melissa C. Southey, Robert Luben, Daniele Campa, Hoda Anton-Culver, Hiltrud Brauch, Børge G. Nordestgaard, Wolfgang Janni, Douglas F. Easton, Diether Lambrechts, Marjanka K. Schmidt, Jonathan Beesley, Thilo Dörk, Miriam Dwek, Robert Winqvist, Irene L. Andrulis, Paolo Peterlongo, Manjeet K. Bolla, Manuela Gago-Dominguez, Matthias Ruebner, Nick Orr, Stephen J. Chanock, Paul L. Auer, Michael Lush, Sune F. Nielsen, Amber N Hurson, Alpa V. Patel, Sander Canisius, Vessela N. Kristensen, José A. García-Sáenz, Joe Dennis, Mervi Grip, Sarah Colonna, Tongguang Cheng, Martha S. Linet, Cari M. Kitahara, Annika Lindblom, Anna Jakubowska, Paul D.P. Pharoah, Bernard Peissel, Christopher G. Scott, Maria Elena Martinez, Laure Dossus, Saundra S. Buys, Graham G. Giles, Pascal Guénel, Anthony J. Swerdlow, Allison W. Kurian, Jan Lubinski, Andrew F. Olshan, A. Heather Eliassen, Valerie Rhenius, Jose E. Castelao, Renske Keeman, Diana Eccles, John W.M. Martens, Melissa A. Troester, Sara Margolin, Thomas U. Ahearn, Hedy S. Rennert, Nadege Presneau, Mehdi Manoochehri, Laura E. Beane Freeman, Lauren R. Teras, Jaana M. Hartikainen, Hermann Brenner, Reiner Hoppe, Atocha Romero, Mitul Shah, Peter A. Fasching, Argyrios Ziogas, Matthias W. Beckmann, Ross L. Prentice, James V. Lacey, Harald Surowy, Rulla M. Tamimi, D. Gareth Evans, Celine M. Vachon, Snezhana Smichkoska, Mary B. Daly, Karolina Prajzendanc, Arif B. Ekici, Stig E. Bojesen, Niclas Håkansson, Steven N. Hart, Mikael Eriksson, Maria Escala-Garcia, Taru A. Muranen, Arndt Hartmann, Henrik Flyger, Håkan Olsson, Federico Canzian, Rebecca Roylance, Mary Beth Terry, Jenny Chang-Claude, Andreas Schneeweiss, Angela Cox, Maartje J. Hooning, Anthony Howell, Volker Arndt, Lin Fritschi, Bette J. Caan, Kyriaki Michailidou, Per Hall, Ian Tomlinson, Thérèse Truong, Anna Marie Mulligan, Fergus J. Couch, Gad Rennert, Ute Hamann, Brigitte Rack, Sabine Behrens, Jennifer Stone, Qin Wang, kConFab Investigators, Kamila Czene, John L. Hopper, Audrey Y. Jung, Rudolf Kaaks, Schmidt, Marjanka K. [0000-0002-2228-429X], Apollo - University of Cambridge Repository, Dörk, Thilo [0000-0002-9458-0282], Newman, William G [0000-0002-6382-4678], Romero, Atocha [0000-0002-1634-7397], Stone, Jennifer [0000-0001-5077-0124], Schmidt, Marjanka K [0000-0002-2228-429X], HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, and Medical Oncology

Subjects
Oncology, medicine.medical_treatment, LOCI, PROGRESSION, Systemic treatment, SUSCEPTIBILITY, BETA-CATENIN, Germline, SUBTYPES, 0302 clinical medicine, Surgical oncology, TOOL, Medicine, RC254-282, 0303 health sciences, Tumor biology, ROLES, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Single Nucleotide, Prognosis, 3. Good health, 030220 oncology & carcinogenesis, Female, Research Article, EXPRESSION, medicine.medical_specialty, 3122 Cancers, Breast Neoplasms, Polymorphism, Single Nucleotide, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Internal medicine, Humans, ddc:610, Polymorphism, Allele, Breast cancer-specific survival, Common germline genetic variants, Patient subgroups, Genome-Wide Association Study, Survival Analysis, Germ-Line Mutation, Pathological, 030304 developmental biology, Cancer och onkologi, Chemotherapy, IDENTIFICATION, business.industry, Proportional hazards model, medicine.disease, Confidence interval, Cancer and Oncology, Breast Cancer-specific Survival, Common Germline Genetic Variants, Patient Subgroups, Systemic Treatment, Tumor Biology, business
Abstract

Background Given the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients. Methods We performed genome-wide association analyses within 15 subgroups of breast cancer patients based on prognostic factors, including hormone receptors, tumor grade, age, and type of systemic treatment. Analyses were based on 91,686 female patients of European ancestry from the Breast Cancer Association Consortium, including 7531 breast cancer-specific deaths over a median follow-up of 8.1 years. Cox regression was used to assess associations of common germline variants with 15-year and 5-year breast cancer-specific survival. We assessed the probability of these associations being true positives via the Bayesian false discovery probability (BFDP Results Evidence of associations with breast cancer-specific survival was observed in three patient subgroups, with variant rs5934618 in patients with grade 3 tumors (15-year-hazard ratio (HR) [95% confidence interval (CI)] 1.32 [1.20, 1.45], P = 1.4E−08, BFDP = 0.01, per G allele); variant rs4679741 in patients with ER-positive tumors treated with endocrine therapy (15-year-HR [95% CI] 1.18 [1.11, 1.26], P = 1.6E−07, BFDP = 0.09, per G allele); variants rs1106333 (15-year-HR [95% CI] 1.68 [1.39,2.03], P = 5.6E−08, BFDP = 0.12, per A allele) and rs78754389 (5-year-HR [95% CI] 1.79 [1.46,2.20], P = 1.7E−08, BFDP = 0.07, per A allele), in patients with ER-negative tumors treated with chemotherapy. Conclusions We found evidence of four loci associated with breast cancer-specific survival within three patient subgroups. There was limited evidence for the existence of associations in other patient subgroups. However, the power for many subgroups is limited due to the low number of events. Even so, our results suggest that the impact of common germline genetic variants on breast cancer-specific survival might be limited.

Published
2021
Full Text
View/download PDF

3. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Author

Morra, Anna, Escala-Garcia, Maria, Beesley, Jonathan, Keeman, Renske, Canisius, Sander, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Auer, Paul L., Augustinsson, Annelie, Beane Freeman, Laura E., Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bojesen, Stig E., Bolla, Manjeet K., Brenner, Hermann, Brüning, Thomas, Buys, Saundra S., Caan, Bette, Campa, Daniele, Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Cheng, Ting-Yuan David, Clarke, Christine L., Colonna, Sarah V., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Dennis, Joe, Dörk, Thilo, Dossus, Laure, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Flyger, Henrik, Fritschi, Lin, Gago-Dominguez, Manuela, García-Sáenz, José A., Giles, Graham G., Grip, Mervi, Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N., Hartikainen, Jaana M., Hartmann, Arndt, He, Wei, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Howell, Anthony, Hunter, David J., Jager, Agnes, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jung, Audrey Y., Kaaks, Rudolf, Keupers, Machteld, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kurian, Allison W., Lacey, James V., Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Linet, Martha, Luben, Robert N., Lubiński, Jan, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martens, John W. M., Martinez, Maria Elena, Mavroudis, Dimitrios, Michailidou, Kyriaki, Milne, Roger L., Mulligan, Anna Marie, Muranen, Taru A., Nevanlinna, Heli, Newman, William G., Nielsen, Sune F., Nordestgaard, Børge G., Olshan, Andrew F., Olsson, Håkan, Orr, Nick, Park-Simon, Tjoung-Won, Patel, Alpa V., Peissel, Bernard, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Presneau, Nadege, Rack, Brigitte, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Roylance, Rebecca, Ruebner, Matthias, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Schneeweiss, Andreas, Scott, Christopher, Shah, Mitul, Smichkoska, Snezhana, Southey, Melissa C., Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Teras, Lauren R., Terry, Mary Beth, Tollenaar, Rob A. E. M., Tomlinson, Ian, Troester, Melissa A., Truong, Thérèse, Vachon, Celine M., Wang, Qin, Hurson, Amber N., Winqvist, Robert, Wolk, Alicja, Ziogas, Argyrios, Brauch, Hiltrud, García-Closas, Montserrat, Pharoah, Paul D. P., Easton, Douglas F., Chenevix-Trench, Georgia, Schmidt, Marjanka K., Børresen-Dale, Anne-Lise, Sahlberg, Kristine K., Ottestad, Lars, Kåresen, Rolf, Schlichting, Ellen, Holmen, Marit Muri, Sauer, Toril, Haakensen, Vilde, Engebråten, Olav, Naume, Bjørn, Fosså, Alexander, Kiserud, Cecile E., Reinertsen, Kristin V., Helland, Åslaug, Riis, Margit, Geisler, Jürgen, Grenaker Alnæs, Grethe I., Clarke, Christine, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, J. Dinny, and Sachchithananthan, Mythily

Subjects
Tumor biology, Systemic treatment, Common germline genetic variants, Patient subgroups, 3. Good health, Research Article, Breast cancer-specific survival
Abstract

Funder: FP7 Ideas: European Research Council; doi: http://dx.doi.org/10.13039/100011199; Grant(s): HEALTH-F2-2009-223175, Background: Given the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients. Methods: We performed genome-wide association analyses within 15 subgroups of breast cancer patients based on prognostic factors, including hormone receptors, tumor grade, age, and type of systemic treatment. Analyses were based on 91,686 female patients of European ancestry from the Breast Cancer Association Consortium, including 7531 breast cancer-specific deaths over a median follow-up of 8.1 years. Cox regression was used to assess associations of common germline variants with 15-year and 5-year breast cancer-specific survival. We assessed the probability of these associations being true positives via the Bayesian false discovery probability (BFDP < 0.15). Results: Evidence of associations with breast cancer-specific survival was observed in three patient subgroups, with variant rs5934618 in patients with grade 3 tumors (15-year-hazard ratio (HR) [95% confidence interval (CI)] 1.32 [1.20, 1.45], P = 1.4E−08, BFDP = 0.01, per G allele); variant rs4679741 in patients with ER-positive tumors treated with endocrine therapy (15-year-HR [95% CI] 1.18 [1.11, 1.26], P = 1.6E−07, BFDP = 0.09, per G allele); variants rs1106333 (15-year-HR [95% CI] 1.68 [1.39,2.03], P = 5.6E−08, BFDP = 0.12, per A allele) and rs78754389 (5-year-HR [95% CI] 1.79 [1.46,2.20], P = 1.7E−08, BFDP = 0.07, per A allele), in patients with ER-negative tumors treated with chemotherapy. Conclusions: We found evidence of four loci associated with breast cancer-specific survival within three patient subgroups. There was limited evidence for the existence of associations in other patient subgroups. However, the power for many subgroups is limited due to the low number of events. Even so, our results suggest that the impact of common germline genetic variants on breast cancer-specific survival might be limited.

Catalog

Books, media, physical & digital resources
See catalog results