Grant number: 5 U01 CA69638
Harindra Jayasekara, Robert J MacInnis, James A Chamberlain, Gillian S Dite, Nicole M Leoce, James G Dowty, Adrian Bickerstaffe, Aung Ko Win, Roger L Milne, Graham G Giles, Mary Beth Terry, Diana M Eccles, Melissa C Southey, John L Hopper
2019-12-15
Our aim was to estimate how long-term mortality following breast cancer diagnosis depends on age at diagnosis, tumor estrogen rece..
Cameron M Scott, Ee Ming Wong, JiHoon Eric Joo, Pierre-Antoine Dugue, Chol-Hee Jung, Neil O'Callaghan, James Dowty, Graham G Giles, John L Hopper, Melissa C Southey
2018-12-01
Breast cancers arising in women carrying a germline mutation in BRCA1 are typically high-grade, early-onset and have distinct morp..
Myrto Barrdahl, Anja Rudolph, John L Hopper, Melissa C Southey, Annegien Broeks, Peter A Fasching, Matthias W Beckmann, Manuela Gago-Dominguez, J Esteban Castelao, Pascal Guenel, Therese Truong, Stig E Bojesen, Susan M Gapstur, Mia M Gaudet, Hermann Brenner, Volker Arndt, Hiltrud Brauch, Ute Hamann, Arto Mannermaa, Diether Lambrechts
2017-11-01
Investigating the most likely causal variants identified by fine-mapping analyses may improve the power to detect gene-environment..
Gillian S Dite, Robert J MacInnis, Adrian Bickerstaffe, James G Dowty, Roger L Milne, Antonis C Antoniou, Prue Weideman, Carmel Apicella, Graham G Giles, Melissa C Southey, Mark A Jenkins, Kelly-Anne Phillips, Aung Ko Win, Mary Beth Terry, John L Hopper
2017-03-15
The ability to classify people according to their underlying genetic susceptibility to a disease is increasing with new knowledge,..
Melissa C Southey, David E Goldgar, Robert Winqvist, Katri Pylkas, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, Tuomas Heikkinen, Heli Nevanlinna, John L Hopper, Thilo Doerk, Kathleen BM Claes, Jorge Reis-Filho, Zhi Ling Teo, Paolo Radice, Irene Catucci, Paolo Peterlongo
2016-12-01
BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Popul..
Antoinette Hollestelle, Frederieke H van der Baan, Andrew Berchuck, Sharon E Johnatty, Katja K Aben, Bjarni A Agnarsson, Kristiina Aittomaki, Elisa Alducci, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Antonis C Antoniou, Carmel Apicella, Volker Arndt, Norbert Arnold, Banu K Arun, Brita Arver, Alan Ashworth, Laura Baglietto, Rosemary Balleine
2016-05-01
OBJECTIVE: Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR micro..
Gillian S Dite, Robert J MacInnis, Adrian Bickerstaffe, James G Dowty, Richard Allman, Carmel Apicella, Roger L Milne, Helen Tsimiklis, Kelly-Anne Phillips, Graham G Giles, Mary Beth Terry, Melissa C Southey, John L Hopper
2016-02-01
BACKGROUND: The extent to which clinical breast cancer risk prediction models can be improved by including information on known su..
Qi Guo, Marjanka K Schmidt, Peter Kraft, Sander Canisius, Constance Chen, Sofia Khan, Jonathan Tyrer, Manjeet K Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Michael Lush, Siddhartha Kar, Jonathan Beesley, Alison M Dunning, Mitul Shah, Kamila Czene, Hatef Darabi, Mikael Eriksson, Diether Lambrechts
2015-05-01
BACKGROUND: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be be..
Ailith Pirie, Qi Guo, Peter Kraft, Sander Canisius, Diana M Eccles, Nazneen Rahman, Heli Nevanlinna, Constance Chen, Sofia Khan, Jonathan Tyrer, Manjeet K Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Michael Lush, Alison M Dunning, Mitul Shah, Kamila Czene, Hatef Darabi, Mikael Eriksson
2015-04-22
INTRODUCTION: Previous studies have identified common germline variants nominally associated with breast cancer survival. These as..
Anja Rudolph, Roger L Milne, Therese Truong, Julia A Knight, Petra Seibold, Dieter Flesch-Janys, Sabine Behrens, Ursula Eilber, Manjeet K Bolla, Qin Wang, Joe Dennis, Alison M Dunning, Mitul Shah, Hannah R Munday, Hatef Darabi, Mikael Eriksson, Judith S Brand, Janet Olson, Celine M Vachon, Emily Hallberg
2015-03-15
A large genotyping project within the Breast Cancer Association Consortium (BCAC) recently identified 41 associations between sing..
Wei-Yu Lin, Nicola J Camp, Maya Ghoussaini, Jonathan Beesley, Kyriaki Michailidou, John L Hopper, Carmel Apicella, Melissa C Southey, Jennifer Stone, Marjanka K Schmidt, Annegien Broeks, Laura J Van't Veer, Emiel J Th Rutgers, Kenneth Muir, Artitaya Lophatananon, Sarah Stewart-Brown, Pornthep Siriwanarangsan, Peter A Fasching, Lothar Haeberle, Arif B Ekici
2015-01-01
Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the..
Kristen S Purrington, Seth Slettedahl, Manjeet K Bolla, Kyriaki Michailidou, Kamila Czene, Heli Nevanlinna, Stig E Bojesen, Irene L Andrulis, Angela Cox, Per Hall, Jane Carpenter, Drakoulis Yannoukakos, Christopher A Haiman, Peter A Fasching, Arto Mannermaa, Robert Winqvist, Hermann Brenner, Annika Lindblom, Georgia Chenevix-Trench, Javier Benitez
2014-11-15
Mitotic index is an important component of histologic grade and has an etiologic role in breast tumorigenesis. Several small candi..
Sofia Khan, Dario Greco, Kyriaki Michailidou, Roger L Milne, Taru A Muranen, Tuomas Heikkinen, Kirsimari Aaltonen, Joe Dennis, Manjeet K Bolla, Jianjun Liu, Per Hall, Astrid Irwanto, Keith Humphreys, Jingmei Li, Kamila Czene, Jenny Chang-Claude, Rebecca Hein, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys
2014-11-12
Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect t..
AC Antoniou, S Casadei, T Heikkinen, D Barrowdale, K Pylkaes, J Roberts, A Lee, D Subramanian, K De Leeneer, F Fostira, E Tomiak, SL Neuhausen, ZL Teo, S Khan, K Aittomaeki, JS Moilanen, C Turnbull, S Seal, A Mannermaa, A Kallioniemi
2014-08-07
BACKGROUND: Germline loss-of-function mutations in PALB2 are known to confer a predisposition to breast cancer. However, the lifet..
Daniel J Park, Kayoko Tao, Florence Le Calvez-Kelm, Nguyen-Dumont Tu, Nivonirina Robinot, Fleur Hammet, Fabrice Odefrey, Helen Tsimiklis, Zhi L Teo, Louise B Thingholm, Erin L Young, Catherine Voegele, Andrew Lonie, Bernard J Pope, Terrell C Roane, Russell Bell, Hao Hu, null Shankaracharya, Chad D Huff, Jonathan Ellis
2014-07-01
UNLABELLED: Approximately half of the familial aggregation of breast cancer remains unexplained. A multiple-case breast cancer fam..
Alaa MG Ali, Marjanka K Schmidt, Manjeet K Bolla, Qin Wang, M Gago-Dominguez, J Esteban Castelao, Angel Carracedo, Victor Munoz Garzon, Stig E Bojesen, Borge G Nordestgaard, Henrik Flyger, Jenny Chang-Claude, Alina Vrieling, Anja Rudolph, Petra Seibold, Heli Nevanlinna, Taru A Muranen, Kirsimari Aaltonen, Carl Blomqvist, Keitaro Matsuo
2014-06-01
BACKGROUND: Evidence for an association of alcohol consumption with prognosis after a diagnosis of breast cancer has been inconsis..
Habibul Ahsan, Jerry Halpern, Muhammad G Kibriya, Brandon L Pierce, Lin Tong, Eric Gamazon, Valerie McGuire, Anna Felberg, Jianxin Shi, Farzana Jasmine, Shantanu Roy, Rachelle Brutus, Maria Argos, Stephanie Melkonian, Jenny Chang-Claude, Irene Andrulis, John L Hopper, Esther M John, Kathi Malone, Giske Ursin
2014-04-01
Early-onset breast cancer (EOBC) causes substantial loss of life and productivity, creating a major burden among women worldwide. ..
Elinor Sawyer, Rebecca Roylance, Christos Petridis, Mark N Brook, Salpie Nowinski, Efterpi Papouli, Olivia Fletcher, Sarah Pinder, Andrew Hanby, Kelly Kohut, Patricia Gorman, Michele Caneppele, Julian Peto, Isabel dos Santos Silva, Nichola Johnson, Ruth Swann, Miriam Dwek, Katherine-Anne Perkins, Cheryl Gillett, Richard Houlston
Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and ..
ME Work, EM John, IL Andrulis, JA Knight, Y Liao, AM Mulligan, MC Southey, GG Giles, GS Dite, C Apicella, H Hibshoosh, JL Hopper, MB Terry
2014-03-04
BACKGROUND: Oestrogen receptor (ER)- and progesterone receptor (PR)-negative (ER-PR-) breast cancer is associated with poorer prog..
Nichola Johnson, Frank Dudbridge, Nick Orr, Lorna Gibson, Michael E Jones, Minouk J Schoemaker, Elizabeth J Folkerd, Ben P Haynes, John L Hopper, Melissa C Southey, Gillian S Dite, Carmel Apicella, Marjanka K Schmidt, Annegien Broeks, Laura J Van't Veer, Femke Atsma, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann
2014-01-01
INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22..
Anja Schoeps, Anja Rudolph, Petra Seibold, Alison M Dunning, Roger L Milne, Stig E Bojesen, Anthony Swerdlow, Irene Andrulis, Hermann Brenner, Sabine Behrens, Nicholas Orr, Michael Jones, Alan Ashworth, Jingmei Li, Helen Cramp, Dan Connley, Kamila Czene, Hatef Darabi, Stephen J Chanock, Jolanta Lissowska
Genes that alter disease risk only in combination with certain environmental exposures may not be detected in genetic association ..
ZL Teo, E Provenzano, GS Dite, DJ Park, C Apicella, SD Sawyer, PA James, G Mitchell, AH Trainer, GJ Lindeman, K Shackleton, L Cicciarelli, SS Buys, IL Andrulis, AM Mulligan, G Glendon, EM John, MB Terry, M Daly, FA Odefrey
2013-07-09
BACKGROUND: Population-based studies of breast cancer have estimated that at least some PALB2 mutations are associated with high b..
Gillian S Dite, Maryam Mahmoodi, Adrian Bickerstaffe, Fleur Hammet, Robert J Macinnis, Helen Tsimiklis, James G Dowty, Carmel Apicella, Kelly-Anne Phillips, Graham G Giles, Melissa C Southey, John L Hopper
2013-06-01
It has been shown that, for women aged 50 years or older, the discriminatory accuracy of the Breast Cancer Risk Prediction Tool (B..
Evelina Mocci, Roger L Milne, Elena Yuste Mendez-Villamil, John L Hopper, Esther M John, Irene L Andrulis, Wendy K Chung, Mary Daly, Saundra S Buys, Nuria Malats, David E Goldgar
2013-05-01
BACKGROUND: Increased risk of pancreatic cancer has been reported in breast cancer families carrying BRCA1and BRCA2 mutations; how..
Montserrat Garcia-Closas, Fergus J Couch, Sara Lindstrom, Kyriaki Michailidouo, Marjanka K Schmidt, Mark N Brook, Nick Orr, Suhn Kyong Rhie, Elio Riboli, Heather S Feigelson, Loic Le Marchand, Julie E Buring, Diana Eccles, Penelope Miron, Peter A Fasching, Hiltrud Brauch, Jenny Chang-Claude, Jane Carpenter, Andrew K Godwin, Heli Nevanlinna
2013-04-01
Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women..
Stefan Nickels, Therese Truong, Rebecca Hein, Kristen Stevens, Katharina Buck, Sabine Behrens, Ursula Eilber, Martina Schmidt, Lothar Haeberle, Alina Vrieling, Mia Gaudet, Jonine Figueroa, Nils Schoof, Amanda B Spurdle, Anja Rudolph, Peter A Fasching, John L Hopper, Enes Makalic, Daniel F Schmidt, Melissa C Southey
2013-03-01
Various common genetic susceptibility loci have been identified for breast cancer; however, it is unclear how they combine with li..
Fergus J Couch, Xianshu Wang, Lesley McGuffog, Andrew Lee, Curtis Olswold, Karoline B Kuchenbaecker, Penny Soucy, Zachary Fredericksen, Daniel Barrowdale, Joe Dennis, Mia M Gaudet, Ed Dicks, Matthew Kosel, Sue Healey, Olga M Sinilnikova, Adam Lee, Francois Bacot, Daniel Vincent, Frans BL Hogervorst, Susan Peock
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modif..
Mia M Gaudet, Karoline B Kuchenbaecker, Joseph Vijai, Robert J Klein, Tomas Kirchhoff, Lesley McGuffog, Daniel Barrowdale, Alison M Dunning, Andrew Lee, Joe Dennis, Sue Healey, Ed Dicks, Penny Soucy, Olgam Sinilnikova, Vernon S Pankratz, Xianshu Wang, Ronald C Eldridge, Daniel C Tessier, Daniel Vincent, Francois Bacot
Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to dat..
Francisco Javier Gracia-Aznarez, Victoria Fernandez, Guillermo Pita, Paolo Peterlongo, Orlando Dominguez, Miguel de la Hoya, Mercedes Duran, Ana Osorio, Leticia Moreno, Anna Gonzalez-Neira, Juan Manuel Rosa-Rosa, Olga Sinilnikova, Sylvie Mazoyer, John Hopper, Conchi Lazaro, Melissa Southey, Fabrice Odefrey, Siranoush Manoukian, Irene Catucci, Trinidad Caldes
2013-02-08
The identification of the two most prevalent susceptibility genes in breast cancer, BRCA1 and BRCA2, was the beginning of a sustai..
Florence Le Calvez-Kelm, Javier Oliver, Francesca Damiola, Nathalie Forey, Nivonirina Robinot, Geoffroy Durand, Catherine Voegele, Maxime P Vallee, Graham Byrnes, John L Hopper, Melissa C Southey, Irene L Andrulis, Esther M John, Sean V Tavtigian, Fabienne Lesueur
2012-12-27
BACKGROUND: Although inherited breast cancer has been associated with germline mutations in genes that are functionally involved i..
Afshan Siddiq, Fergus J Couch, Gary K Chen, Sara Lindstrom, Diana Eccles, Robert C Millikan, Kyriaki Michailidou, Daniel O Stram, Lars Beckmann, Suhn Kyong Rhie, Christine B Ambrosone, Kristiina Aittomaki, Pilar Amiano, Carmel Apicella, Laura Baglietto, Elisa V Bandera, Matthias W Beckmann, Christine D Berg, Leslie Bernstein, Carl Blomqvist
2012-12-15
Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susc..
Brooke L Brewster, Francesca Rossiello, Juliet D French, Stacey L Edwards, Ming Wong, Ania Wronski, Phillip Whiley, Nic Waddell, Xiaowei Chen, Betsy Bove, John L Hopper, Esther M John, Irene Andrulis, Mary Daly, Sara Volorio, Loris Bernard, Bernard Peissel, Siranoush Manoukian, Monica Barile, Sara Pizzamiglio
2012-12-01
Mutations in the BRCA1 gene confer a substantial increase in breast cancer risk, yet routine clinical genetic screening is limited..
Kristen N Stevens, Xianshu Wang, Zachary Fredericksen, Vernon S Pankratz, Mark H Greene, Irene L Andrulis, Mads Thomassen, Maria Caligo, Katherine L Nathanson, Anna Jakubowska, Ana Osorio, Ute Hamann, Andrew K Godwin, Dominique Stoppa-Lyonnet, Melissa Southey, Saundra S Buys, Christian F Singer, Thomas VO Hansen, Adalgeir Arason, Kenneth Offit
2012-11-01
Several common germline variants identified through genome-wide association studies of breast cancer risk in the general populatio..
Helen Warren, Frank Dudbridge, Olivia Fletcher, Nick Orr, Nichola Johnson, John L Hopper, Carmel Apicella, Melissa C Southey, Maryam Mahmoodi, Marjanka K Schmidt, Annegien Broeks, Sten Cornelissen, Linda M Braaf, Kenneth R Muir, Artitaya Lophatananon, Arkom Chaiwerawattana, Surapon Wiangnon, Peter A Fasching, Matthias W Beckmann, Arif B Ekici
2012-10-01
BACKGROUND: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686). M..
Peter A Fasching, Paul DP Pharoah, Angela Cox, Heli Nevanlinna, Stig E Bojesen, Thomas Karn, Annegien Broeks, Flora E van Leeuwen, Laura J van 't Veer, Renate Udo, Alison M Dunning, Dario Greco, Kristiina Aittomaki, Carl Blomqvist, Mitul Shah, Borge G Nordestgaard, Henrik Flyger, John L Hopper, Melissa C Southey, Carmel Apicella
2012-09-01
Recent genome-wide association studies identified 11 single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) ris..
Rebecca Hein, Melanie Maranian, John L Hopper, Miroslaw K Kapuscinski, Melissa C Southey, Daniel J Park, Marjanka K Schmidt, Annegien Broeks, Frans BL Hogervorst, H Bas Bueno-de-Mesquit, Kenneth R Muir, Artitaya Lophatananon, Suthee Rattanamongkongul, Puttisak Puttawibul, Peter A Fasching, Alexander Hein, Arif B Ekici, Matthias W Beckmann, Olivia Fletcher, Nichola Johnson
2012-08-07
The 6q25.1 locus was first identified via a genome-wide association study (GWAS) in Chinese women and marked by single nucleotide ..
Yuan C Ding, Lesley McGuffog, Sue Healey, Eitan Friedman, Yael Laitman, null Shani-Paluch-Shimon, Bella Kaufman, Annelie Liljegren, Annika Lindblom, Hakan Olsson, Ulf Kristoffersson, Marie Stenmark-Askmalm, Beatrice Melin, Susan M Domchek, Katherine L Nathanson, Timothy R Rebbeck, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda
2012-08-01
BACKGROUND: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and br..
Meghan E Work, Irene L Andrulis, Esther M John, John L Hopper, Yuyan Liao, Fang Fang Zhang, Julia A Knight, Dee W West, Roger L Milne, Graham G Giles, Teri A Longacre, Frances O'Malley, Anna Marie Mulligan, Melissa C Southey, Hanina Hibshoosh, Mary Beth Terry
Epidemiologic studies of histologic types of breast cancer including mucinous, medullary, and tubular carcinomas have primarily re..
Diether Lambrechts, Therese Truong, Christina Justenhoven, Manjeet K Humphreys, Jean Wang, John L Hopper, Gillian S Dite, Carmel Apicella, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Sten Cornelissen, Richard van Hien, Elinor Sawyer, Ian Tomlinson, Michael Kerin, Nicola Miller, Roger L Milne, M Pilar Zamora, Jose Ignacio Arias Perez
2012-07-01
A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, ..
DJ Park, F Lesueur, T Nguyen-Dumont, M Pertesi, F Odefrey, F Hammet, SL Neuhausen, EM John, IL Andrulis, MB Terry, M Daly, S Buys, F Le Calvez-Kelm, A Lonie, BJ Pope, H Tsimiklis, C Voegele, FM Hilbers, N Hoogerbrugge, A Barroso
2012-04-06
An exome-sequencing study of families with multiple breast-cancer-affected individuals identified two families with XRCC2 mutation..
Kristen N Stevens, Zachary Fredericksen, Celine M Vachon, Xianshu Wang, Sara Margolin, Annika Lindblom, Heli Nevanlinna, Dario Greco, Kristiina Aittomaki, Carl Blomqvist, Jenny Chang-Claude, Alina Vrieling, Dieter Flesch-Janys, Hans-Peter Sinn, Shan Wang-Gohrke, Stefan Nickels, Hiltrud Brauch, Yon-Dschun Ko, Hans-Peter Fischer, Rita K Schmutzler
2012-04-01
The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associat..
Fergus J Couch, Mia M Gaudet, Antonis C Antoniou, Susan J Ramus, Karoline B Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Xianshu Wang, Tomas Kirchhoff, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Sue Healey, Olga M Sinilnikova, Irene L Andrulis, Hilmi Ozcelik, Anna Marie Mulligan, Mads Thomassen, Anne-Marie Gerdes
BACKGROUND: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast ..
Susan J Ramus, Antonis C Antoniou, Karoline B Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Olga M Sinilnikova, Sue Healey, Daniel Barrowdale, Andrew Lee, Mads Thomassen
Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association ..
Antonis C Antoniou, Karoline B Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Andrew Lee, Daniel Barrowdale, Sue Healey, Olga M Sinilnikova, Maria A Caligo, Niklas Loman, Katja Harbst, Annika Lindblom, Brita Arver, Richard Rosenquist, Per Karlsson, Kate Nathanson, Susan Domchek, Tim Rebbeck
2012-01-01
INTRODUCTION: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 m..
Nasim Mavaddat, Daniel Barrowdale, Irene L Andrulis, Susan M Domchek, Diana Eccles, Heli Nevanlinna, Susan J Ramus, Amanda Spurdle, Mark Robson, Mark Sherman, Anna Marie Mulligan, Fergus J Couch, Christoph Engel, Lesley McGuffog, Sue Healey, Olga M Sinilnikova, Melissa C Southey, Mary Beth Terry, David Goldgar, Frances O'Malley
BACKGROUND: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger ..
Gillian S Dite, Enes Makalic, Daniel F Schmidt, Graham G Giles, John L Hopper, Melissa C Southey
INTRODUCTION: We hypothesised that breast cancer risk for relatives of women with early-onset breast cancer could be predicted by ..
KN Stevens, M Garcia-Closas, Z Fredericksen, M Kosel, VS Pankratz, JL Hopper, GS Dite, C Apicella, MC Southey, MK Schmidt, A Broeks, LJ Van 't Veer, RAEM Tollenaar, PA Fasching, MW Beckmann, A Hein, AB Ekici, N Johnson, J Peto, I dos Santos Silva
2011-12-06
BACKGROUND: Somatic mutations in phosphoinositide-3-kinase catalytic subunit alpha (PIK3CA) are frequent in breast tumours and hav..
Jonine D Figueroa, Montserrat Garcia-Closas, Manjeet Humphreys, Radka Platte, John L Hopper, Melissa C Southey, Carmel Apicella, Fleur Hammet, Marjanka K Schmidt, Annegien Broeks, Rob AEM Tollenaar, Laura J Van't Veer, Peter A Fasching, Matthias W Beckmann, Arif B Ekici, Reiner Strick, Julian Peto, Isabel dos Santos Silva, Olivia Fletcher, Nichola Johnson
2011-12-01
A genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) at 1p11.2 and 14q24.1 (RAD51L1) as breast..
Allison W Kurian, Gail D Gong, Esther M John, David A Johnston, Anna Felberg, Dee W West, Alexander Miron, Irene L Andrulis, John L Hopper, Julia A Knight, Hilmi Ozcelik, Gillian S Dite, Carmel Apicella, Melissa C Southey, Alice S Whittemore
PURPOSE: Women with germline BRCA1 and BRCA2 mutations have five- to 20-fold increased risks of developing breast and ovarian canc..
David G Cox, Jacques Simard, Daniel Sinnett, Yosr Hamdi, Penny Soucy, Manon Ouimet, Laure Barjhoux, Carole Verny-Pierre, Lesley McGuffog, Sue Healey, Csilla Szabo, Mark H Greene, Phuong L Mai, Irene L Andrulis, Mads Thomassen, Anne-Marie Gerdes, Maria A Caligo, Eitan Friedman, Yael Laitman, Bella Kaufman
Mutations in the BRCA1 gene substantially increase a woman's lifetime risk of breast cancer. However, there is great variation in ..
Daniel J Park, Fabrice A Odefrey, Fleur Hammet, Graham G Giles, Laura Baglietto, John L Hopper, Daniel F Schmidt, Enes Makalic, Olga M Sinilnikova, David E Goldgar, Melissa C Southey
We are interested in the characterisation of previously undescribed contributions to the heritable component of human cancers. To ..
Christopher A Maxwell, Javier Benitez, Laia Gomez-Baldo, Ana Osorio, Nuria Bonifaci, Ricardo Fernandez-Ramires, Sylvain V Costes, Elisabet Guino, Helen Chen, Gareth JR Evans, Pooja Mohan, Isabel Catala, Anna Petit, Helena Aguilar, Alberto Villanueva, Alvaro Aytes, Jordi Serra-Musach, Gad Rennert, Flavio Lejbkowicz, Paolo Peterlongo
2011-11-01
Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcin..
Roger L Milne, Justo Lorenzo-Bermejo, Barbara Burwinkel, Nuria Malats, Jose Ignacio Arias, M Pilar Zamora, Javier Benitez, Manjeet K Humphreys, Montserrat Garcia-Closas, Stephen J Chanock, Jolanta Lissowska, Mark E Sherman, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomaki, Carl Blomqvist, Hoda Anton-Culver
2011-10-01
BACKGROUND: Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphis..
Roger L Milne, Ellen L Goode, Montserrat Garca-Closas, Fergus J Couch, Gianluca Severi, Rebecca Hein, Zachary Fredericksen, Nuria Malats, M Pilar Zamora, Jose Ignacio Arias Perez, Javier Benitez, Thilo Doerk, Peter Schuermann, Johann H Karstens, Peter Hillemanns, Angela Cox, Ian W Brock, Graeme Elliot, Simon S Cross, Sheila Seal
BACKGROUND: The single-nucleotide polymorphism (SNP) 5p12-rs10941679 has been found to be associated with risk of breast cancer, p..
Roger L Milne, Esther M John, Julia A Knight, Gillian S Dite, Melissa C Southey, Graham G Giles, Carmel Apicella, Dee W West, Irene L Andrulis, Alice S Whittemore, John L Hopper
BACKGROUND: A previous Australian population-based breast cancer case-control study found indirect evidence that control participa..
Antonis C Antoniou, Christiana Kartsonaki, Olga M Sinilnikova, Penny Soucy, Lesley McGuffog, Sue Healey, Andrew Lee, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Elisa Cattaneo, Monica Barile, Valeria Pensotti, Barbara Pasini, Riccardo Dolcetti, Giuseppe Giannini, Anna Laura Putignano, Liliana Varesco, Paolo Radice
2011-08-15
Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast can..
Annegien Broeks, Marjanka K Schmidt, Mark E Sherman, Fergus J Couch, John L Hopper, Gillian S Dite, Carmel Apicella, Letitia D Smith, Fleur Hammet, Melissa C Southey, Laura J Van 't Veer, Renate de Groot, Vincent THBM Smit, Peter A Fasching, Matthias W Beckmann, Sebastian Jud, Arif B Ekici, Arndt Hartmann, Alexander Hein, Ruediger Schulz-Wendtland
Breast cancers demonstrate substantial biological, clinical and etiological heterogeneity. We investigated breast cancer risk asso..
Wei-Yu Lin, Nicola J Camp, Lisa A Cannon-Albright, Kristina Allen-Brady, Sabapathy Balasubramanian, Malcolm WR Reed, John L Hopper, Carmel Apicella, Graham G Giles, Melissa C Southey, Roger L Milne, Jose I Arias-Perez, Primitiva Menendez-Rodriguez, Javier Benitez, Magdalena Grundmann, Natalia Dubrowinskaja, Tjoung-Won Park-Simon, Thilo Doerk, Montserrat Garcia-Closas, Jonine Figueroa
2011-07-01
BACKGROUND: The XRCC2 gene is a key mediator in the homologous recombination repair of DNA double strand breaks. It is hypothesise..
Paul DP Pharoah, Rachel T Palmieri, Susan J Ramus, Simon A Gayther, Irene L Andrulis, Hoda Anton-Culver, Natalia Antonenkova, Antonis C Antoniou, David Goldgar, Mary S Beattie, Matthias W Beckmann, Michael J Birrer, Natalia Bogdanova, Kelly L Bolton, Wendy Brewster, Angela Brooks-Wilson, Robert Brown, Ralf Butzow, Trinidad Caldes, Maria Adelaide Caligo
2011-06-01
PURPOSE: An assay for the single-nucleotide polymorphism (SNP), rs61764370, has recently been commercially marketed as a clinical ..
MC Southey, SJ Ramus, JG Dowty, LD Smith, AA Tesoriero, EEM Wong, GS Dite, MA Jenkins, GB Byrnes, I Winship, K-A Phillips, GG Giles, JL Hopper
2011-03-15
BACKGROUND: Knowing a young woman with newly diagnosed breast cancer has a germline BRCA1 mutation informs her clinical management..
Xiaohong R Yang, Jenny Chang-Claude, Ellen L Goode, Fergus J Couch, Heli Nevanlinna, Roger L Milne, Mia Gaudet, Marjanka K Schmidt, Annegien Broeks, Angela Cox, Peter A Fasching, Rebecca Hein, Amanda B Spurdle, Fiona Blows, Kristy Driver, Dieter Flesch-Janys, Judith Heinz, Peter Sinn, Alina Vrieling, Tuomas Heikkinen
2011-02-01
BACKGROUND: Previous studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progest..
Celia MT Greenwood, Andrew D Paterson, Linda Linton, Irene L Andrulis, Carmel Apicella, Apostolos Dimitromanolakis, Valentina Kriukov, Lisa J Martin, Ayesha Salleh, Elena Samiltchuk, Rashmi V Parekh, Melissa C Southey, Esther M John, John L Hopper, Norman F Boyd, Johanna M Rommens
2011-01-01
INTRODUCTION: Mammographic breast density is a highly heritable (h2 > 0.6) and strong risk factor for breast cancer. We conducted ..
Anna Marie Mulligan, Fergus J Couch, Daniel Barrowdale, Susan M Domchek, Diana Eccles, Heli Nevanlinna, Susan J Ramus, Mark Robson, Mark Sherman, Amanda B Spurdle, Barbara Wappenschmidt, Andrew Lee, Lesley McGuffog, Sue Healey, Olga M Sinilnikova, Ramunas Janavicius, Thomas VO Hansen, Finn C Nielsen, Bent Ejlertsen, Ana Osorio
INTRODUCTION: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated wi..
Ee Ming Wong, Melissa C Southey, Stephen B Fox, Melissa A Brown, James G Dowty, Mark A Jenkins, Graham G Giles, John L Hopper, Alexander Dobrovic
Women carrying germline mutations in BRCA1 are at a substantially elevated risk of breast cancer and their tumors typically have d..
Letitia D Smith, Andrea A Tesoriero, Ee M Wong, Susan J Ramus, Frances P O'Malley, Anna Marie Mulligan, Mary Beth Terry, Ruby T Senie, Regina M Santella, Esther M John, Irene L Andrulis, Hilmi Ozcelik, Mary B Daly, Andrew K Godwin, Saundra S Buys, Stephen Fox, David E Goldgar, Graham G Giles, John L Hopper, Melissa C Southey
INTRODUCTION: Selecting women affected with breast cancer who are most likely to carry a germline mutation in BRCA1 and applying t..
Susan J Ramus, Christiana Kartsonaki, Simon A Gayther, Paul DP Pharoah, Olga M Sinilnikova, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Sue Healey, Fergus J Couch, Xianshu Wang, Zachary Fredericksen, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Gaia Roversi, Monica Barile, Alessandra Viel, Anna Allavena
BACKGROUND: Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Alt..
KA Schrader, S Masciari, N Boyd, C Salamanca, J Senz, DN Saunders, E Yorida, S Maines-Bandiera, P Kaurah, N Tung, ME Robson, PD Ryan, OI Olopade, SM Domchek, J Ford, C Isaacs, P Brown, J Balmana, AR Razzak, P Miron
BACKGROUND: Germline mutations in CDH1 are associated with hereditary diffuse gastric cancer; lobular breast cancer also occurs ex..
Florence Le Calvez-Kelm, Fabienne Lesueur, Francesca Damiola, Maxime Vallee, Catherine Voegele, Davit Babikyan, Geoffroy Durand, Nathalie Forey, Sandrine McKay-Chopin, Nivonirina Robinot, Tu Nguyen-Dumont, Alun Thomas, Graham B Byrnes, John L Hopper, Melissa C Southey, Irene L Andrulis, Esther M John, Sean V Tavtigian
INTRODUCTION: Both protein-truncating variants and some missense substitutions in CHEK2 confer increased risk of breast cancer. Ho..
David E Goldgar, Sue Healey, James G Dowty, Leonard Da Silva, Xiaoqing Chen, Amanda B Spurdle, Mary Beth Terry, Mary J Daly, Saundra M Buys, Melissa C Southey, Irene Andrulis, Esther M John, Kum Kum Khanna, John L Hopper, Peter J Oefner, Sunil Lakhani, Georgia Chenevix-Trench
INTRODUCTION: The ataxia-telangiectasia mutated (ATM) gene (MIM ID 208900) encodes a protein kinase that plays a significant role ..
Antonis C Antoniou, Jonathan Beesley, Lesley McGuffog, Olga M Sinilnikova, Sue Healey, Susan L Neuhausen, Yuan Chun Ding, Timothy R Rebbeck, Jeffrey N Weitzel, Henry T Lynch, Claudine Isaacs, Patricia A Ganz, Gail Tomlinson, Olufunmilayo I Olopade, Fergus J Couch, Xianshu Wang, Noralane M Lindor, Vernon S Pankratz, Paolo Radice, Siranoush Manoukian
2010-12-01
The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast..
Antonis C Antoniou, Xianshu Wang, Zachary S Fredericksen, Lesley McGuffog, Robert Tarrell, Olga M Sinilnikova, Sue Healey, Jonathan Morrison, Christiana Kartsonaki, Timothy Lesnick, Maya Ghoussaini, Daniel Barrowdale, Susan Peock, Margaret Cook, Clare Oliver, Debra Frost, Diana Eccles, D Gareth Evans, Ros Eeles, Louise Izatt
2010-10-01
Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide assoc..
GS Dite, AS Whittemore, JA Knight, EM John, RL Milne, IL Andrulis, MC Southey, MRE McCredie, GG Giles, A Miron, AI Phipps, DW West, JL Hopper
2010-09-28
BACKGROUND: Little is known regarding cancer risks for relatives of women with very early-onset breast cancer. METHODS: We studied..
Olivia Fletcher, Nichola Johnson, Isabel dos Santos Silva, Nick Orr, Alan Ashworth, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomaki, Carl Blomqvist, Barbara Burwinkel, Claus R Bartram, Alfons Meindl, Rita K Schmutzler, Angela Cox, Ian Brock, Graeme Elliott, Malcolm WR Reed, Melissa C Southey, Letitia Smith, Amanda B Spurdle
2010-09-01
BACKGROUND: Truncating mutations in ATM have been shown to increase the risk of breast cancer but the effect of missense variants ..
Theresa HM Keegan, Roger L Milne, Irene L Andrulis, Ellen T Chang, Meera Sangaramoorthy, Kelly-Anne Phillips, Graham G Giles, Pamela J Goodwin, Carmel Apicella, John L Hopper, Alice S Whittemore, Esther M John
Few studies have considered the joint association of body mass index (BMI) and physical activity, two modifiable factors, with all..
Judy Mouchawar, Christopher Korch, Tim Byers, Todd M Pitts, Efang Li, Margaret RE McCredie, Graham G Giles, John L Hopper, Melissa C Southey
2010-06-15
Although germline TP53 mutations have been identified in women with breast cancer from families meeting Li-Fraumeni criteria, thei..
Gordon Fehringer, Hilmi Ozcelik, Julia A Knight, Andrew D Paterson, Gillian S Dite, Graham G Giles, Melissa C Southey, Irene L Andrulis, John L Hopper, Norman F Boyd
2010-04-01
Height, weight, and body mass index (BMI) are partly heritable, known to be associated with chronic diseases, and are linked to ci..
Katherine I Morley, Roger L Milne, Graham G Giles, Melissa C Southey, Carmel Apicella, John L Hopper, Kelly-Anne Phillips
OBJECTIVE: To estimate the association between measures of socio-economic status (SES) and breast cancer (BC) survival for young, ..
Melissa C Southey, Zhi L Teo, James G Dowty, Fabrice A Odefrey, Daniel J Park, Marc Tischkowitz, Nelly Sabbaghian, Carmel Apicella, Graham B Byrnes, Ingrid Winship, Laura Baglietto, Graham G Giles, David E Goldgar, William D Foulkes, John L Hopper
2010-01-01
NTRODUCTION: As a group, women who carry germline mutations in partner and localizer of breast cancer 2 susceptibility protein (PA..
Roger L Milne, Mia M Gaudet, Amanda B Spurdle, Peter A Fasching, Fergus J Couch, Javier Benitez, Jose Ignacio Arias Perez, M Pilar Zamora, Nuria Malats, Isabel dos Santos Silva, Lorna J Gibson, Olivia Fletcher, Nichola Johnson, Hoda Anton-Culver, Argyrios Ziogas, Jonine Figueroa, Louise Brinton, Mark E Sherman, Jolanta Lissowska, John L Hopper
INTRODUCTION: Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine ho..
A Osorio, RL Milne, G Pita, P Peterlongo, T Heikkinen, J Simard, G Chenevix-Trench, AB Spurdle, J Beesley, X Chen, S Healey, SL Neuhausen, YC Ding, FJ Couch, X Wang, N Lindor, S Manoukian, M Barile, A Viel, L Tizzoni
2009-12-08
BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to ..
Jianjun Liu, Kartiki Vasant Desai, Yuqing Li, Shakeela Banu, Yew Kok Lee, Dianbo Qu, Tuomas Heikkinen, Kirsimari Aaltonen, Taru A Muranen, Tasneem Shabbir Kajiji, Carine Bonnard, Kristiina Aittomäki, Karl von Smitten, Carl Blomqvist, John L Hopper, Melissa C Southey, Hiltrud Brauch, null GENICA Consortium, Georgia Chenevix-Trench, Jonathan Beesley
2009-12-01
UNLABELLED: Multiple lines of evidence suggest regulatory variation to play an important role in phenotypic evolution and disease ..
Antonis C Antoniou, Olga M Sinilnikova, Lesley McGuffog, Sue Healey, Heli Nevanlinna, Tuomas Heikkinen, Jacques Simard, Amanda B Spurdle, Jonathan Beesley, Xiaoqing Chen, Susan L Neuhausen, Yuan C Ding, Fergus J Couch, Xianshu Wang, Zachary Fredericksen, Paolo Peterlongo, Bernard Peissel, Bernardo Bonanni, Alessandra Viel, Loris Bernard
2009-11-15
Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associat..
Gordon Fehringer, Norman F Boyd, Julia A Knight, Andrew D Paterson, Gillian S Dite, Graham G Giles, Melissa C Southey, Irene L Andrulis, John L Hopper, Hilmi Ozcelik
2009-11-01
Several studies suggest that higher circulating insulin-like growth factor I (IGF-I) levels are associated with premenopausal brea..
Sean V Tavtigian, Peter J Oefner, Davit Babikyan, Anne Hartmann, Sue Healey, Florence Le Calvez-Kelm, Fabienne Lesueur, Graham B Byrnes, Shu-Chun Chuang, Nathalie Forey, Corinna Feuchtinger, Lydie Gioia, Janet Hall, Mia Hashibe, Barbara Herte, Sandrine McKay-Chopin, Alun Thomas, Maxime P Vallee, Catherine Voegele, Penelope M Webb
2009-10-09
The susceptibility gene for ataxia telangiectasia, ATM, is also an intermediate-risk breast-cancer-susceptibility gene. However, t..
Ellen T Chang, Roger L Milne, Kelly-Anne Phillips, Jane C Figueiredo, Meera Sangaramoorthy, Theresa HM Keegan, Irene L Andrulis, John L Hopper, Pamela J Goodwin, Frances P O'Malley, Nayana Weerasooriya, Carmel Apicella, Melissa C Southey, Michael L Friedlander, Graham G Giles, Alice S Whittemore, Dee W West, Esther M John
2009-09-01
Although having a family history of breast cancer is a well established breast cancer risk factor, it is not known whether it infl..
Sharon E Johnatty, Fergus J Couch, Zachary Fredericksen, Robert Tarrell, Amanda B Spurdle, Jonathan Beesley, Xiaoqing Chen, Daphne Gschwantler-Kaulich, Christian F Singer, Christine Fuerhauser, Anneliese Fink-Retter, Susan M Domchek, Katherine L Nathanson, Vernon S Pankratz, Noralane M Lindor, Andrew K Godwin, Maria A Caligo, John Hopper, Melissa C Southey, Graham G Giles
GATA-binding protein 3 (GATA3) is a transcription factor that is crucial to mammary gland morphogenesis and differentiation of pro..
Roger L Milne, Javier Benitez, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomaki, Carl Blomqvist, Jose Ignacio Arias, M Pilar Zamora, Barbara Burwinkel, Claus R Bartram, Alfons Meindl, Rita K Schmutzler, Angela Cox, Ian Brock, Graeme Elliott, Malcolm WR Reed, Melissa C Southey, Letitia Smith, Amanda B Spurdle, John L Hopper
2009-07-15
BACKGROUND: A recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of ..
Susan L Neuhausen, Hilmi Ozcelik, Melissa C Southey, Esther M John, Andrew K Godwin, Wendy Chung, Jeniffer Iriondo-Perez, Alexander Miron, Regina M Santella, Alice Whittemore, Irene L Andrulis, Saundra S Buys, Mary B Daly, John L Hopper, Daniela Seminara, Ruby T Senie, Mary Beth Terry
2009-07-01
The Breast Cancer Family Registry is a resource for interdisciplinary and translational studies of the genetic epidemiology of bre..
Tu Nguyen-Dumont, Florence Le Calvez-Kelm, Nathalie Forey, Sandrine McKay-Chopin, Sonia Garritano, Lydie Gioia-Patricola, Deepika De Silva, Ron Weigel, Suleeporn Sangrajrang, Fabienne Lesueur, Sean V Tavtigian
2009-06-01
Mutation scanning using high-resolution melting curve analysis (HR-melt) is an effective and sensitive method to detect sequence v..
Kelly-Anne Phillips, Roger L Milne, Dee W West, Pamela J Goodwin, Graham G Giles, Ellen T Chang, Jane C Figueiredo, Michael L Friedlander, Theresa HM Keegan, Gord Glendon, Carmel Apicella, Frances P O'Malley, Melissa C Southey, Irene L Andrulis, Esther M John, John L Hopper
Studies have examined the prognostic relevance of reproductive factors before breast cancer diagnosis, but most have been small an..
Shahana Ahmed, Gilles Thomas, Maya Ghoussaini, Catherine S Healey, Manjeet K Humphreys, Radka Platte, Jonathan Morrison, Melanie Maranian, Karen A Pooley, Robert Luben, Diana Eccles, D Gareth Evans, Olivia Fletcher, Nichola Johnson, Isabel dos Santos Silva, Julian Peto, Michael R Stratton, Nazneen Rahman, Kevin Jacobs, Ross Prentice
2009-05-01
Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fra..
Timothy R Rebbeck, Antonis C Antoniou, Trinidad Caldes Llopis, Heli Nevanlinna, Kristiina Aittomäki, Jacques Simard, Amanda B Spurdle, null KConFab, Fergus J Couch, Lutecia H Mateus Pereira, Mark H Greene, Irene L Andrulis, null Ontario Cancer Genetics Network, Boris Pasche, Virginia Kaklamani, null Breast Cancer Family Registry, Ute Hamann, Csilla Szabo, Susan Peock, Margaret Cook
BACKGROUND: The transforming growth factor beta-1 gene (TGFB1) is a plausible candidate for breast cancer susceptibility. The L10P..
Sharon E Johnatty, Jonathan Beesley, Xiaoqing Chen, John L Hopper, Melissa C Southey, Graham G Giles, David E Goldgar, Georgia Chenevix-Trench, Amanda B Spurdle
BARD1 was first identified as a BRCA1-interacting protein with tumour-suppressor functions. Some association studies suggested tha..
Alison M Dunning, Catherine S Healey, Caroline Baynes, Ana-Teresa Maia, Serena Scollen, Ana Vega, Raquel Rodriguez, Nuno L Barbosa-Morais, Bruce AJ Ponder, Yen-Ling Low, Sheila Bingham, Christopher A Haiman, Loic Le Marchand, Annegien Broeks, Marjanka K Schmidt, John Hopper, Melissa Southey, Matthias W Beckmann, Peter A Fasching, Julian Peto
2009-03-15
We have conducted a three-stage, comprehensive single nucleotide polymorphism (SNP)-tagging association study of ESR1 gene variant..
Gillian S Dite, Lyle C Gurrin, Graham B Byrnes, Jennifer Stone, Anoma Gunasekara, Margaret RE McCredie, Dallas R English, Graham G Giles, Jennifer Cawson, Robert A Hegele, Anna M Chiarelli, Martin J Yaffe, Norman F Boyd, John L Hopper
2008-12-01
Understanding which factors influence mammographically dense and nondense areas is important because percent mammographic density ..
James G Dowty, Felicity Lose, Mark A Jenkins, Jiun-Horng Chang, XiaoQing Chen, Jonathan Beesley, Gillian S Dite, Melissa C Southey, Graham B Byrnes, Andrea Tesoriero, Graham G Giles, John L Hopper, Amanda B Spurdle
2008-11-01
RAD51D is a homolog of the RAD51 protein, which is known to be an important component of the DNA repair pathway. A rare missense v..
Fleur Hammet, Jessica George, Andrea A Tesoriero, Mark A Jenkins, Christopher Schroen, Letitia Smith, Anke Grabosch-Meehan, Gillian Dite, Margaret RE McCredie, Graham G Giles, Sean V Tavtigian, John L Hopper, Melissa C Southey
2008-05-01
Amanda B Spurdle, Jiun-Horng Chang, Graham B Byrnes, Xiaoqing Chen, Gillian S Dite, Margaret RE McCredie, Graham G Giles, Melissa C Southey, Georgia Chenevix-Trench, John L Hopper
2007-04-01
OBJECTIVE: We undertook a case-control study in an Australian Caucasian population-based sample of 1,246 cases and 664 controls to..
LD Smith, AA Tesoriero, SJ Ramus, G Dite, SG Royce, GG Giles, MRE McCredie, JL Hopper, MC Southey
2007-03-01
Women diagnosed with breast cancer before the age of 40 years who have a strong family history of breast and/or ovarian cancer wer..
JL Bernstein, S Teraoka, MC Southey, MA Jenkins, IL Andrulis, JA Knight, EM John, R Lapinski, AL Wolitzer, AS Whittemore, D West, D Seminara, ER Olson, AB Spurdle, G Chenevix-Trench, GG Giles, JL Hopper, P Concannon
2006-11-01
The ATM gene variants segregating in ataxia-telangiectasia families are associated with increased breast cancer risk, but the cont..
Carmel Apicella, Stuart J Peacock, Lesley Andrews, Katherine Tucker, Agnes Bankier, Mary B Daly, John L Hopper
2006-01-01
INTRODUCTION: Patient preferences are central to the economic appraisal of health services. Cancer genetic services are relatively..
AB Spurdle, AC Antoniou, L Kelemen, H Holland, S Peock, MR Cook, PL Smith, MH Greene, J Simard, M Plourde, MC Southey, AK Godwin, J Beck, A Miron, MB Daly, RM Santella, JL Hopper, EM John, IL Andrulis, F Durocher
This is by far the largest study of its kind to date, and further suggests that AIB1 does not play a substantial role in modifying..
B Kuschel, G Chenevix-Trench, AB Spurdle, XQ Chen, JL Hopper, GG Giles, M McCredie, J Chang-Claude, CS Gregory, NE Day, DF Easton, BAJ Ponder, AM Dunning, PDP Pharoah
2005-07-01
A substantial proportion of the familial risk of breast cancer may be due to genetic variants, each contributing a small effect. T..
AB Spurdle, AC Antoniou, DL Duffy, N Pandeya, L Kelemen, XQ Chen, S Peock, MR Cook, PL Smith, DM Purdie, B Newman, GS Dite, C Apicella, MC Southey, GG Giles, JL Hopper, G Chenevix-Trench, DF Easton
2005-01-01
INTRODUCTION: The androgen receptor (AR) gene exon 1 CAG repeat polymorphism encodes a string of 9-32 glutamines. Women with germl..
Csilla I Szabo, Mieke Schutte, Annegien Broeks, Jeanine J Houwing-Duistermaat, Yvonne R Thorstenson, Francine Durocher, Rogier A Oldenburg, Marijke Wasielewski, Fabrice Odefrey, Deborah Thompson, Arno N Floore, Jaennelle Kraan, Jan GM Klijn, Ans MW van den Ouweland, Teresa MU Wagner, Peter Devilee, Jacques Simard, Laura J van 't Veer, David E Goldgar, Hanne Meijers-Heijboer
2004-02-01
Two mutations of the ATM gene were recently suggested to confer breast cancer risks similar to mutations of BRCA1 or BRCA2. Here, ..
AB Spurdle, JL Hopper, XQ Chen, MRE McCredie, GG Giles, B Newman, G Chenevix-Trench
2002-09-21
A C to T transition within the 3' untranslated region of the prohibitin gene alters mRNA function, and an association between the ..
AB Spurdle, JL Hopper, XQ Chen, MRE McCredie, GG Giles, DJ Venter, MC Southey, G Chenevix-Trench
2002-05-01
An Alu insertion polymorphism of the progesterone receptor (PR) wasreported recently to be associated with a reduced risk of breas..
AB Spurdle, JL Hopper, XQ Chen, GS Dite, JS Cui, MRE McCredie, GG Giles, S Ellis-Steinborner, DJ Venter, B Newman, MC Southey, G Chenevix-Trench
2002-04-01
The BRCA2 N372H nonconservative amino acid substitution polymorphism appears to affect fetal survival in a sex-dependent manner, a..
G Chenevix-Trench, AB Spurdle, M Gatei, H Kelly, A Marsh, XQ Chen, K Donn, M Cummings, D Nyholt, MA Jenkins, C Scott, GM Pupo, T Dork, R Bendix, J Kirk, K Tucker, MRE McCredie, JL Hopper, J Sambrook, GJ Mann
2002-02-06
BACKGROUND: The ATM gene encoding a putative protein kinase is mutated in ataxia-telangiectasia (A-T), an autosomal recessive diso..
D Thompson, CI Szabo, J Mangion, RA Oldenburg, F Odefrey, S Seal, R Barfoot, K Kroeze-Jansema, D Teare, N Rahman, H Renard, G Mann, JL Hopper, SS Buys, IL Andrulis, R Senie, MB Daly, D West, EA Ostrander, K Offit
2002-01-22
The known susceptibility genes for breast cancer, including BRCA1 and BRCA2, only account for a minority of the familial aggregati..
IL Andrulis, H Anton-Culver, J Beck, B Bove, J Boyd, S Buys, AK Godwin, JL Hopper, F Li, SL Neuhausen, H Ozcelik, D Peel, RM Santella, MC Southey, NJ van Orsouw, DJ Venter, J Vijg, AS Whittemore
2002-01-01
A number of methods are used for mutational analysis of BRCA1, a large multi-exon gene. A comparison was made of five methods to d..
AB Spurdle, JL Hopper, XQ Chen, MRE McCredie, GG Giles, B Newman, G Chenevix-Trench, K Khanna
BACKGROUND: There is evidence that certain mutations in the double-strand break repair pathway ataxia-telangiectasia mutated gene ..
AB Spurdle, JL Hopper, XQ Chen, GS Dite, MRE McCredie, GG Giles, DJ Venter, MC Southey, DM Purdie, G Chenevix-Trench
2001-12-01
The enzyme 5alpha-reductase type II (SRD5A2) converts testosterone to its more active form 5alpha-dihydroxytestosterone. The 3' un..
JS Cui, MP Staples, JL Hopper, DR English, MRE McCredie, GG Giles
2001-05-01
Segregation analyses aim to detect genetic factors that have a major effect on an individual's risk of disease and to describe the..
JS Cui, AC Antoniou, GS Dite, MC Southey, DJ Venter, DF Easton, GG Giles, MRE McCredie, JL Hopper
2001-02-01
Mutations in BRCA1 and BRCA2 that cause a dominantly inherited high risk of female breast cancer seem to explain only a small prop..