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Results: 41
Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist
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Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer.
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Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
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Increased FOXJ1 protein expression is associated with improved overall survival in high-grade serous ovarian carcinoma
Ashley Weir, Eun-Young Kang, Nicola S Meagher, Gregg S Nelson, Prafull Ghatage, Cheng-Han Lee, Marjorie J Riggan, Aleksandra Gentry-Maharaj, Andy Ryan, Naveena Singh, Martin Widschwendter, Jennifer Alsop, Michael S Anglesio, Matthias W Beckmann, Jessica Berger, Christiani Bisinotto, Jessica Boros, Alison H Brand, James D Brenton, Angela Brooks-Wilson, Michael E Carney, Julie M Cunningham, Kara L Cushing-Haugen, Cezary Cybulski, Esther Elishaev, Ramona Erber, Sian Fereday, Anna Fischer, Luis Paz-Ares, Javier Gayarre, Blake C Gilks, Marcel Grube, Paul R Harnett, Holly R Harris, Arndt Hartmann, Alexander Hein, Joy Hendley, Brenda Y Hernandez, Sabine Heublein, Yajue Huang, Tomasz Huzarski, Anna Jakubowska, Mercedes Jimenez-Linan, Catherine J Kennedy, Felix KF Kommoss, Jennifer M Koziak, Bernhard Kraemer, Nhu D Le, Jaime Lesnock, Jenny Lester, Jan Lubiński, Janusz Menkiszak, Britta Ney, Alexander Olawaiye, Sandra Orsulic, Ana Osorio, Luis Robles-Díaz, Matthias Ruebner, Mitul Shah, Raghwa Sharma, Yurii B Shvetsov, Helen Steed, Aline Talhouk, Sarah E Taylor, Nadia Traficante, Robert A Vierkant, Chen Wang, Lynne R Wilkens, Stacey J Winham, Javier Benitez, Andrew Berchuck, David D Bowtell, Francisco J Candido Dos Reis, Linda S Cook, Anna DeFazio, AOCS Group, Jennifer A Doherty, Peter A Fasching, María J García, Ellen L Goode, Marc T Goodman, Jacek Gronwald, David G Huntsman, Beth Y Karlan, Stefan Kommoss, Francesmary Modugno, Joellen M Schildkraut, Hans-Peter Sinn, Annette Staebler, Linda E Kelemen, Caroline E Ford, Usha Menon, Paul DP Pharoah, Martin Köbel, Susan J Ramus
Jan 05, 2023
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CYP19A1 fine-mapping and Mendelian randomization
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Five endometrial cancer risk loci identified through genome-wide association analysis.
Timothy Ht Cheng, Deborah J Thompson, Tracy A O'Mara, Jodie N Painter, Dylan M Glubb, Susanne Flach, Annabelle Lewis, Juliet D French, Luke Freeman-Mills, David Church, Maggie Gorman, Lynn Martin, National Study of Endometrial Cancer Genetics Group (NSECG), Shirley Hodgson, Penelope M Webb, Australian National Endometrial Cancer Study Group (ANECS), John Attia, Elizabeth G Holliday, Mark McEvoy, Rodney J Scott, Anjali K Henders, Nicholas G Martin, Grant W Montgomery, Dale R Nyholt, Shahana Ahmed, Catherine S Healey, Mitul Shah, Joe Dennis, Peter A Fasching, Matthias W Beckmann, Alexander Hein, Arif B Ekici, Per Hall, Kamila Czene, Hatef Darabi, Jingmei Li, Thilo Dörk, Matthias Dürst, Peter Hillemanns, Ingo Runnebaum, Frederic Amant, Stefanie Schrauwen, Hui Zhao, Diether Lambrechts, Jeroen Depreeuw, Sean C Dowdy, Ellen L Goode, Brooke L Fridley, Stacey J Winham, Tormund S Njølstad, Helga B Salvesen, Jone Trovik, Henrica MJ Werner, Katie Ashton, Geoffrey Otton, Tony Proietto, Tao Liu, Miriam Mints, Emma Tham, RENDOCAS, Chibcha Consortium, Mulin Jun Li, Shun H Yip, Junwen Wang, Manjeet K Bolla, Kyriaki Michailidou, Qin Wang, Jonathan P Tyrer, Malcolm Dunlop, Richard Houlston, Claire Palles, John L Hopper, AOCS Group, Julian Peto, Anthony J Swerdlow, Barbara Burwinkel, Hermann Brenner, Alfons Meindl, Hiltrud Brauch, Annika Lindblom, Jenny Chang-Claude, Fergus J Couch, Graham G Giles, Vessela N Kristensen, Angela Cox, Julie M Cunningham, Paul DP Pharoah, Alison M Dunning, Stacey L Edwards, Douglas F Easton, Ian Tomlinson, Amanda B Spurdle
May 18, 2016
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Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium
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RAD51B in Familial Breast Cancer.
Liisa M Pelttari, Sofia Khan, Mikko Vuorela, Johanna I Kiiski, Sara Vilske, Viivi Nevanlinna, Salla Ranta, Johanna Schleutker, Robert Winqvist, Anne Kallioniemi, Thilo Dörk, Natalia V Bogdanova, Jonine Figueroa, Paul DP Pharoah, Marjanka K Schmidt, Alison M Dunning, Montserrat García-Closas, Manjeet K Bolla, Joe Dennis, Kyriaki Michailidou, Qin Wang, John L Hopper, Melissa C Southey, Efraim H Rosenberg, Peter A Fasching, Matthias W Beckmann, Julian Peto, Isabel dos-Santos-Silva, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Harald Surowy, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Børge G Nordestgaard, Javier Benitez, Anna González-Neira, Susan L Neuhausen, Hoda Anton-Culver, Hermann Brenner, Volker Arndt, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Thomas Brüning, Annika Lindblom, Sara Margolin, Arto Mannermaa, Jaana M Hartikainen, Georgia Chenevix-Trench, kConFab/AOCS Investigators, Laurien Van Dyck, Hilde Janssen, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Paolo Peterlongo, Emily Hallberg, Janet E Olson, Graham G Giles, Roger L Milne, Christopher A Haiman, Fredrick Schumacher, Jacques Simard, Martine Dumont, Vessela Kristensen, Anne-Lise Borresen-Dale, Wei Zheng, Alicia Beeghly-Fadiel, Mervi Grip, Irene L Andrulis, Gord Glendon, Peter Devilee, Caroline Seynaeve, Maartje J Hooning, Margriet Collée, Angela Cox, Simon S Cross, Mitul Shah, Robert N Luben, Ute Hamann, Diana Torres, Anna Jakubowska, Jan Lubinski, Fergus J Couch, Drakoulis Yannoukakos, Nick Orr, Anthony Swerdlow, Hatef Darabi, Jingmei Li, Kamila Czene, Per Hall, Douglas F Easton, Johanna Mattson, Carl Blomqvist, Kristiina Aittomäki, Heli Nevanlinna
May 31, 2016
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Association of p16 expression with prognosis varies across ovarian carcinoma histotypes
Peter F Rambau, Robert A Vierkant, Maria P Intermaggio, Linda E Kelemen, Marc T Goodman, Esther Herpel, Paul D Pharoah, Stefan Kommoss, Mercedes Jimenez-Linan, Beth Y Karlan, Aleksandra Gentry-Maharaj, Usha Menon, Susanna Hernando Polo, Francisco J Candido Dos Reis, Jennifer Anne Doherty, Simon A Gayther, Raghwa Sharma, Melissa C Larson, Paul R Harnett, Emma Hatfield, Jurandyr M de Andrade, Gregg S Nelson, Helen Steed, Joellen M Schildkraut, Micheal E Carney, Estrid Høgdall, Alice S Whittemore, Martin Widschwendter, Catherine J Kennedy, Frances Wang, Qin Wang, Chen Wang, Sebastian M Armasu, Frances Daley, Penny Coulson, Micheal E Jones, Micheal S Anglesio, Christine Chow, Anna de Fazio, Montserrat García-Closas, Sara Y Brucker, Cezary Cybulski, Holly R Harris, Andreas D Hartkopf, Tomasz Huzarski, Allan Jensen, Jan Lubiński, Oleg Oszurek, Javier Benitez, Fady Mina, Annette Staebler, Florin Andrei Taran, Jana Pasternak, Aline Talhouk, Mary Anne Rossing, Joy Hendley, AOCS Group, Robert P Edwards, Sian Fereday, Francesmary Modugno, Roberta B Ness, Weiva Sieh, Mona A El-Bahrawy, Stacey J Winham, Jenny Lester, Susanne K Kjaer, Jacek Gronwald, Peter Sinn, Peter A Fasching, Jenny Chang-Claude, Kirsten B Moysich, David D Bowtell, Brenda Y Hernandez, Hugh Luk, Sabine Behrens, Mitul Shah, Audrey Jung, Prafull Ghatage, Jennifer Alsop, Kathryn Alsop, Jesús García-Donas, Pamela J Thompson, Anthony J Swerdlow, Chloe Karpinskyj, Alicia Cazorla-Jiménez, María J García, Susha Deen, Lynne R Wilkens, José Palacios, Andrew Berchuck, Jennifer M Koziak, James D Brenton, Linda S Cook, Ellen L Goode, David G Huntsman, Susan J Ramus, Martin Köbel
Nov 12, 2018
We aimed to validate the prognostic association of p16 expression in ovarian high-grade serous carcinomas (HGSC) and to explore it in other ovarian carcinoma histotypes. p16 protein expression was assessed by clinical-grade...
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Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression.
Hatef Darabi, Karen McCue, Jonathan Beesley, Kyriaki Michailidou, Silje Nord, Siddhartha Kar, Keith Humphreys, Deborah Thompson, Maya Ghoussaini, Manjeet K Bolla, Joe Dennis, Qin Wang, Sander Canisius, Christopher G Scott, Carmel Apicella, John L Hopper, Melissa C Southey, Jennifer Stone, Annegien Broeks, Marjanka K Schmidt, Rodney J Scott, Artitaya Lophatananon, Kenneth Muir, Matthias W Beckmann, Arif B Ekici, Peter A Fasching, Katharina Heusinger, Isabel dos-Santos-Silva, Julian Peto, Ian Tomlinson, Elinor J Sawyer, Barbara Burwinkel, Frederik Marme, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Javier Benitez, Anna González-Neira, Hoda Anton-Culver, Susan L Neuhausen, Volker Arndt, Hermann Brenner, Christoph Engel, Alfons Meindl, Rita K Schmutzler, German Consortium of Hereditary Breast and Ovarian Cancer, Norbert Arnold, Hiltrud Brauch, Ute Hamann, Jenny Chang-Claude, Sofia Khan, Heli Nevanlinna, Hidemi Ito, Keitaro Matsuo, Natalia V Bogdanova, Thilo Dörk, Annika Lindblom, Sara Margolin, kConFab/AOCS Investigators, Veli-Matti Kosma, Arto Mannermaa, Chiu-Chen Tseng, Anna H Wu, Giuseppe Floris, Diether Lambrechts, Anja Rudolph, Paolo Peterlongo, Paolo Radice, Fergus J Couch, Celine Vachon, Graham G Giles, Catriona Mclean, Roger L Milne, Pierre-Antoine Dugué, Christopher A Haiman, Gertraud Maskarinec, Christy Woolcott, Brian E Henderson, Mark S Goldberg, Jacques Simard, Soo H Teo, Shivaani Mariapun, Åslaug Helland, Vilde Haakensen, Wei Zheng, Alicia Beeghly-Fadiel, Rulla Tamimi, Arja Jukkola-Vuorinen, Robert Winqvist, Irene L Andrulis, Julia A Knight, Peter Devilee, Robert AEM Tollenaar, Jonine Figueroa, Montserrat García-Closas, Kamila Czene, Maartje J Hooning, Madeleine Tilanus-Linthorst, Jingmei Li, Yu-Tang Gao, Xiao-Ou Shu, Angela Cox, Simon S Cross, Robert Luben, Kay-Tee Khaw, Ji-Yeob Choi, Daehee Kang, Mikael Hartman, Wei Yen Lim, Maria Kabisch, Diana Torres, Anna Jakubowska, Jan Lubinski, James McKay, Suleeporn Sangrajrang, Amanda E Toland, Drakoulis Yannoukakos, Chen-Yang Shen, Jyh-Cherng Yu, Argyrios Ziogas, Minouk J Schoemaker, Anthony Swerdlow, Anne-Lise Borresen-Dale, Vessela Kristensen, Juliet D French, Stacey L Edwards, Alison M Dunning, Douglas F Easton, Per Hall, Georgia Chenevix-Trench
Sep 03, 2015
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Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk.
Pooja Middha Kapoor, Nasim Mavaddat, Parichoy Pal Choudhury, Amber N Wilcox, Sara Lindström, Sabine Behrens, Kyriaki Michailidou, Joe Dennis, Manjeet K Bolla, Qin Wang, Audrey Jung, Zomoroda Abu-Ful, Thomas Ahearn, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J Aronson, Paul L Auer, Laura E Beane Freeman, Heiko Becher, Matthias W Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, Leslie Bernstein, Stig E Bojesen, Hiltrud Brauch, Hermann Brenner, Thomas Brüning, Qiuyin Cai, Daniele Campa, Federico Canzian, Angel Carracedo, Brian D Carter, Jose E Castelao, Stephen J Chanock, Nilanjan Chatterjee, Georgia Chenevix-Trench, Christine L Clarke, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, James Y Dai, H Shelton Earp, Arif B Ekici, A Heather Eliassen, Mikael Eriksson, D Gareth Evans, Peter A Fasching, Jonine Figueroa, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Chi Gao, Susan M Gapstur, Mia M Gaudet, Graham G Giles, Anna González-Neira, Pascal Guénel, Lothar Haeberle, Christopher A Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Sigrid Hatse, Jane Heyworth, Bernd Holleczek, Robert N Hoover, John L Hopper, Anthony Howell, David J Hunter, ABCTB Investigators, kConFab/AOCS Investigators, Esther M John, Michael E Jones, Rudolf Kaaks, Renske Keeman, Cari M Kitahara, Yon-Dschun Ko, Stella Koutros, Allison W Kurian, Diether Lambrechts, Loic Le Marchand, Eunjung Lee, Flavio Lejbkowicz, Martha Linet, Jolanta Lissowska, Ana Llaneza, Robert J Macinnis, Maria Elena Martinez, Tabea Maurer, Catriona Mclean, Susan L Neuhausen, William G Newman, Aaron Norman, Katie M O'Brien, Andrew F Olshan, Janet E Olson, Håkan Olsson, Nick Orr, Charles M Perou, Guillermo Pita, Eric C Polley, Ross L Prentice, Gad Rennert, Hedy S Rennert, Kathryn J Ruddy, Dale P Sandler, Christobel Saunders, Minouk J Schoemaker, Ben Schöttker, Fredrick Schumacher, Christopher Scott, Rodney J Scott, Xiao-Ou Shu, Ann Smeets, Melissa C Southey, John J Spinelli, Jennifer Stone, Anthony J Swerdlow, Rulla M Tamimi, Jack A Taylor, Melissa A Troester, Celine M Vachon, Elke M van Veen, Xiaoliang Wang, Clarice R Weinberg, Caroline Weltens, Walter Willett, Stacey J Winham, Alicja Wolk, Xiaohong R Yang, Wei Zheng, Argyrios Ziogas, Alison M Dunning, Paul DP Pharoah, Marjanka K Schmidt, Peter Kraft, Douglas F Easton, Roger L Milne, Montserrat García-Closas, Jenny Chang-Claude
Apr 14, 2020
We evaluated the joint associations between a new 313-variant PRS (PRS313) and questionnaire-based breast cancer risk factors for women of European ancestry, using 72 284 cases and 80 354 controls from the Breast Cancer...
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Development and Validation of the Gene Expression Predictor of High-grade Serous Ovarian Carcinoma Molecular SubTYPE (PrOTYPE).
Aline Talhouk, Joshy George, Chen Wang, Timothy Budden, Tuan Zea Tan, Derek S Chiu, Stefan Kommoss, Huei San Leong, Stephanie Chen, Maria P Intermaggio, Blake Gilks, Tayyebeh M Nazeran, Mila Volchek, Wafaa Elatre, Rex C Bentley, Janine Senz, Amy Lum, Veronica Chow, Hanwei Sudderuddin, Robertson Mackenzie, Samuel CY Leong, Geyi Liu, Dustin Johnson, Billy Chen, Aocs Group, Jennifer Alsop, Susana N Banerjee, Sabine Behrens, Clara Bodelon, Alison H Brand, Louise Brinton, Michael E Carney, Yoke-Eng Chiew, Kara L Cushing-Haugen, Cezary Cybulski, Darren Ennis, Sian Fereday, Renée T Fortner, Jesús García-Donas, Aleksandra Gentry-Maharaj, Rosalind Glasspool, Teodora Goranova, Casey S Greene, Paul Haluska, Holly R Harris, Joy Hendley, Brenda Y Hernandez, Esther Herpel, Mercedes Jimenez-Linan, Chloe Karpinskyj, Scott H Kaufmann, Gary L Keeney, Catherine J Kennedy, Martin Köbel, Jennifer M Koziak, Melissa C Larson, Jenny Lester, Liz-Anne Lewsley, Jolanta Lissowska, Jan Lubiński, Hugh Luk, Geoff Macintyre, Sven Mahner, Iain A McNeish, Janusz Menkiszak, Nikilyn Nevins, Ana Osorio, Oleg Oszurek, José Palacios, Samantha Hinsley, Celeste L Pearce, Malcolm C Pike, Anna M Piskorz, Isabelle Ray-Coquard, Valerie Rhenius, Cristina Rodriguez-Antona, Raghwa Sharma, Mark E Sherman, Dilrini De Silva, Naveena Singh, Peter Sinn, Dennis Slamon, Honglin Song, Helen Steed, Euan A Stronach, Pamela J Thompson, Aleksandra Tołoczko, Britton Trabert, Nadia Traficante, Chiu-Chen Tseng, Martin Widschwendter, Lynne R Wilkens, Stacey J Winham, Boris Winterhoff, Alicia Beeghly-Fadiel, Javier Benitez, Andrew Berchuck, James D Brenton, Robert Brown, Jenny Chang-Claude, Georgia Chenevix-Trench, Anna DeFazio, Peter A Fasching, María J García, Simon A Gayther, Marc T Goodman, Jacek Gronwald, Michelle J Henderson, Beth Y Karlan, Linda E Kelemen, Usha Menon, Sandra Orsulic, Paul DP Pharoah, Nicolas Wentzensen, Anna H Wu, Joellen M Schildkraut, Mary Anne Rossing, Gottfried E Konecny, David G Huntsman, Ruby Yun-Ju Huang, Ellen L Goode, Susan J Ramus, Jennifer A Doherty, David D Bowtell, Michael S Anglesio
Jun 04, 2020
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Prognostic gene expression signature for high-grade serous ovarian cancer.
BACKGROUND: Median overall survival (OS) for women with high-grade serous ovarian cancer (HGSOC) is ∼4 years, yet survival varies widely between patients. There are no well-established, gene expression signatures associated with...
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Rare germline copy number variants (CNVs) and breast cancer risk.
Joe Dennis, Jonathan P Tyrer, Logan C Walker, Kyriaki Michailidou, Leila Dorling, Manjeet K Bolla, Qin Wang, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Laura E Beane Freeman, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Natalia V Bogdanova, Stig E Bojesen, Hermann Brenner, Jose E Castelao, Jenny Chang-Claude, Georgia Chenevix-Trench, Christine L Clarke, NBCS Collaborators, J Margriet Collée, CTS Consortium, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Laure Dossus, A Heather Eliassen, Mikael Eriksson, D Gareth Evans, Peter A Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Graham G Giles, Anna González-Neira, Pascal Guénel, Eric Hahnen, Christopher A Haiman, Per Hall, Antoinette Hollestelle, Reiner Hoppe, John L Hopper, Anthony Howell, ABCTB Investigators, kConFab/AOCS Investigators, Agnes Jager, Anna Jakubowska, Esther M John, Nichola Johnson, Michael E Jones, Audrey Jung, Rudolf Kaaks, Renske Keeman, Elza Khusnutdinova, Cari M Kitahara, Yon-Dschun Ko, Veli-Matti Kosma, Stella Koutros, Peter Kraft, Vessela N Kristensen, Katerina Kubelka-Sabit, Allison W Kurian, James V Lacey, Diether Lambrechts, Nicole L Larson, Martha Linet, Alicja Ogrodniczak, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Dimitrios Mavroudis, Roger L Milne, Taru A Muranen, Rachel A Murphy, Heli Nevanlinna, Janet E Olson, Håkan Olsson, Tjoung-Won Park-Simon, Charles M Perou, Paolo Peterlongo, Dijana Plaseska-Karanfilska, Katri Pylkäs, Gad Rennert, Emmanouil Saloustros, Dale P Sandler, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Rana Shibli, Ann Smeets, Penny Soucy, Melissa C Southey, Anthony J Swerdlow, Rulla M Tamimi, Jack A Taylor, Lauren R Teras, Mary Beth Terry, Ian Tomlinson, Melissa A Troester, Thérèse Truong, Celine M Vachon, Camilla Wendt, Robert Winqvist, Alicja Wolk, Xiaohong R Yang, Wei Zheng, Argyrios Ziogas, Jacques Simard, Alison M Dunning, Paul DP Pharoah, Douglas F Easton
Feb 19, 2022
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BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
Hermela Shimelis, Romy LS Mesman, Catharina Von Nicolai, Asa Ehlen, Lucia Guidugli, Charlotte Martin, Fabienne MGR Calléja, Huong Meeks, Emily Hallberg, Jamie Hinton, Jenna Lilyquist, Chunling Hu, Cora M Aalfs, Kristiina Aittomäki, Irene Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Javier Benitez, Natalia V Bogdanova, Stig E Bojesen, Manjeet K Bolla, Anne-Lise Borresen-Dale, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Annegien Broeks, Barbara Brouwers, Thomas Brüning, Barbara Burwinkel, Jenny Chang-Claude, Georgia Chenevix-Trench, Ching-Yu Cheng, Ji-Yeob Choi, J Margriet Collée, Angela Cox, Simon S Cross, Kamila Czene, Hatef Darabi, Joe Dennis, Thilo Dörk, Isabel dos-Santos-Silva, Alison M Dunning, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Montserrat García-Closas, Graham G Giles, Gord Glendon, Pascal Guénel, Christopher A Haiman, Per Hall, Ute Hamann, Mikael Hartman, Frans B Hogervorst, Antoinette Hollestelle, John L Hopper, Hidemi Ito, Anna Jakubowska, Daehee Kang, Veli-Matti Kosma, Vessela Kristensen, Kah-Nyin Lai, Diether Lambrechts, Loic Le Marchand, Jingmei Li, Annika Lindblom, Artitaya Lophatananon, Jan Lubinski, Eva Machackova, Arto Mannermaa, Sara Margolin, Frederik Marme, Keitaro Matsuo, Hui Miao, Kyriaki Michailidou, Roger L Milne, Kenneth Muir, Susan L Neuhausen, Heli Nevanlinna, Janet E Olson, Curtis Olswold, Jan JC Oosterwijk, Ana Osorio, Paolo Peterlongo, Julian Peto, Paul DP Pharoah, Katri Pylkäs, Paolo Radice, Muhammad Usman Rashid, Valerie Rhenius, Anja Rudolph, Suleeporn Sangrajrang, Elinor J Sawyer, Marjanka K Schmidt, Minouk J Schoemaker, Caroline Seynaeve, Mitul Shah, Chen-Yang Shen, Martha Shrubsole, Xiao-Ou Shu, Susan Slager, Melissa C Southey, Daniel O Stram, Anthony Swerdlow, Soo H Teo, Ian Tomlinson, Diana Torres, Thérèse Truong, Christi J van Asperen, Lizet E van der Kolk, Qin Wang, Robert Winqvist, Anna H Wu, Jyh-Cherng Yu, Wei Zheng, Ying Zheng, Jennifer Leary, Logan Walker, Lenka Foretova, Florentia Fostira, Kathleen BM Claes, Liliana Varesco, Setareh Moghadasi, Douglas F Easton, Amanda Spurdle, Peter Devilee, Harry Vrieling, Alvaro NA Monteiro, David E Goldgar, Aura Carreira, Maaike PG Vreeswijk, Fergus J Couch, for kConFab/AOCS Investigators, for NBCS Collaborators
May 23, 2017
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Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk.
Luis G Carvajal-Carmona, Tracy A O'Mara, Jodie N Painter, Felicity A Lose, Joe Dennis, Kyriaki Michailidou, Jonathan P Tyrer, Shahana Ahmed, Kaltin Ferguson, Catherine S Healey, Karen Pooley, Jonathan Beesley, Timothy Cheng, Angela Jones, Kimberley Howarth, Lynn Martin, Maggie Gorman, Shirley Hodgson, National Study of Endometrial Cancer Genetics Group (NSECG), Australian National Endometrial Cancer Study Group (ANECS), Nicholas Wentzensen, Peter A Fasching, Alexander Hein, Matthias W Beckmann, Stefan P Renner, Thilo Dörk, Peter Hillemanns, Matthias Dürst, Ingo Runnebaum, Diether Lambrechts, Lieve Coenegrachts, Stefanie Schrauwen, Frederic Amant, Boris Winterhoff, Sean C Dowdy, Ellen L Goode, Attila Teoman, Helga B Salvesen, Jone Trovik, Tormund S Njolstad, Henrica MJ Werner, Rodney J Scott, Katie Ashton, Tony Proietto, Geoffrey Otton, Ofra Wersäll, Miriam Mints, Emma Tham, RENDOCAS, Per Hall, Kamila Czene, Jianjun Liu, Jingmei Li, John L Hopper, Melissa C Southey, Australian Ovarian Cancer Study (AOCS), Arif B Ekici, Matthias Ruebner, Nichola Johnson, Julian Peto, Barbara Burwinkel, Frederik Marme, Hermann Brenner, Aida K Dieffenbach, Alfons Meindl, Hiltrud Brauch, GENICA Network, Annika Lindblom, Jeroen Depreeuw, Matthieu Moisse, Jenny Chang-Claude, Anja Rudolph, Fergus J Couch, Janet E Olson, Graham G Giles, Fiona Bruinsma, Julie M Cunningham, Brooke L Fridley, Anne-Lise Børresen-Dale, Vessela N Kristensen, Angela Cox, Anthony J Swerdlow, Nicholas Orr, Manjeet K Bolla, Qin Wang, Rachel Palmieri Weber, Zhihua Chen, Mitul Shah, Paul DP Pharoah, Alison M Dunning, Ian Tomlinson, Douglas F Easton, Amanda B Spurdle, Deborah J Thompson
Feb 10, 2015
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The BRCA2 c.68-7T > A variant is not pathogenic
Mara Colombo, Irene Lòpez-Perolio, Huong D Meeks, Laura Caleca, Michael T Parsons, Hongyan Li, Giovanna De Vecchi, Emma Tudini, Claudia Foglia, Patrizia Mondini, Siranoush Manoukian, Raquel Behar, Encarna B Gómez Garcia, Alfons Meindl, Marco Montagna, Dieter Niederacher, Ane Y Schmidt, Liliana Varesco, Barbara Wappenschmidt, Manjeet K Bolla, Joe Dennis, Kyriaki Michailidou, Qin Wang, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Alicia Beeghly-Fadel, Javier Benitez, Bram Boeckx, Natalia V Bogdanova, Stig E Bojesen, Bernardo Bonanni, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Jenny Chang-Claude, Don M Conroy, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Mikael Eriksson, Peter A Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Marike Gabrielson, Montserrat García-Closas, Graham G Giles, Anna González-Neira, Pascal Guénel, Christopher A Haiman, Per Hall, Ute Hamann, Mikael Hartman, Jan Hauke, Antoinette Hollestelle, John L Hopper, Anna Jakubowska, Audrey Jung, Veli-Matti Kosma, Diether Lambrechts, Loid Le Marchand, Annika Lindblom, Jan Lubinski, Arto Mannermaa, Sara Margolin, Hui Miao, Roger L Milne, Susan L Neuhausen, Heli Nevanlinna, Janet E Olson, Paolo Peterlongo, Julian Peto, Katri Pylkäs, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Andreas Schneeweiss, Minouk J Schoemaker, Mee Hoong See, Melissa C Southey, Anthony Swerdlow, Soo H Teo, Amanda E Toland, Ian Tomlinson, Thérèse Truong, Christi J van Asperen, Ans Mw van den Ouweland, Lizet E van der Kolk, Robert Winqvist, Drakoulis Yannoukakos, Wei Zheng, kConFab/AOCS Investigators, Alison M Dunning, Douglas F Easton, Alex Henderson, Frans BL Hogervorst, Louise Izatt, Kenneth Offitt, Lucy E Side, Elizabeth J van Rensburg, Study Embrace, Study Hebon, Lesley McGuffog, Antonis C Antoniou, Georgia Chenevix-Trench, Amanda B Spurdle, David E Goldgar, Miguel de la Hoya, Paolo Radice
May 03, 2018
Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR (dPCR)...
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Rare germline copy number variants (CNVs) and breast cancer risk.
Joe Dennis, Jonathan Tyrer, Logan C Walker, Kyriaki Michailidou, Leila Wilson, Manjeet K Bolla, Jean Wang, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Laura E Beane Freeman, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Natalia V Bogdanova, Stig E Bojesen, Hermann Brenner, Jose E Castelao, Jenny Chang-Claude, Georgia Chenevix-Trench, Christine L Clarke, NBCS Collaborators, J Margriet Collée, CTS Consortium, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Laure Dossus, A Heather Eliassen, Mikael Eriksson, D Gareth Evans, Peter A Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Graham G Giles, Anna González-Neira, Pascal Guénel, Eric Hahnen, Christopher A Haiman, Per Hall, Antoinette Hollestelle, Reiner Hoppe, John L Hopper, Anthony Howell, ABCTB Investigators, kConFab/AOCS Investigators, Agnes Jager, Anna Jakubowska, Esther M John, Nichola Johnson, Michael E Jones, Audrey Jung, Rudolf Kaaks, Renske Keeman, Elza Khusnutdinova, Cari M Kitahara, Yon-Dschun Ko, Veli-Matti Kosma, Stella Koutros, Peter Kraft, Vessela N Kristensen, Katerina Kubelka-Sabit, Allison W Kurian, James V Lacey, Diether Lambrechts, Nicole L Larson, Martha Linet, Alicja Ogrodniczak, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Dimitrios Mavroudis, Roger L Milne, Taru A Muranen, Rachel A Murphy, Heli Nevanlinna, Janet E Olson, Håkan Olsson, Tjoung-Won Park-Simon, Charles M Perou, Paolo Peterlongo, Dijana Plaseska-Karanfilska, Katri Pylkäs, Gad Rennert, Emmanouil Saloustros, Dale P Sandler, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Rana Shibli, Ann Smeets, Penny Soucy, Melissa C Southey, Anthony J Swerdlow, Rulla M Tamimi, Jack A Taylor, Lauren R Teras, Mary Beth Terry, Ian Tomlinson, Melissa A Troester, Thérèse Truong, Celine M Vachon, Camilla Wendt, Robert Winqvist, Alicja Wolk, Xiaohong R Yang, Wei Zheng, Argyrios Ziogas, Jacques Simard, Alison Dunning, Paul Pharoah, Douglas Easton
Jan 28, 2022
Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding...
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