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102 results on '"Carmel Apicella"'

1. Meanings of abortion in context: accounts of abortion in the lives of women diagnosed with breast cancer

Author: Maggie Kirkman, Carmel Apicella, Jillian Graham, Martha Hickey, John L. Hopper, Louise Keogh, Ingrid Winship, and Jane Fisher
Subjects: Breast cancer, Abortion, In-depth interviews, Qualitative methods, Gynecology and obstetrics, RG1-991, Public aspects of medicine, RA1-1270
Abstract: Abstract Background A breast cancer diagnosis and an abortion can each be pivotal moments in a woman’s life. Research on abortion and breast cancer deals predominantly with women diagnosed during pregnancy who might be advised to have an abortion. The other—discredited but persistent—association is that abortions cause breast cancer. The aim here was to understand some of the ways in which women themselves might experience the convergence of abortion and breast cancer. Methods Among 50 women recruited from the Australian Breast Cancer Family Study and interviewed in depth about what it meant to have a breast cancer diagnosis before the age of 41, five spontaneously told of having or contemplating an abortion. The transcripts of these five women were analysed to identify what abortion meant in the context of breast cancer, studying each woman’s account as an individual “case” and interpreting it within narrative theory. Results It was evident that each woman understood abortion as playing a different role in her life. One reported an abortion that she did not link to her cancer, the second was relieved not to have to abort a mid-treatment pregnancy, the third represented abortion as saving her life by making her cancer identifiable, the fourth grieved an abortion that had enabled her to begin chemotherapy, and the fifth believed that her cancer was caused by an earlier abortion. Conclusions The women’s accounts illustrate the different meanings of abortion in women’s lives, with concomitant need for diverse support, advice, and information.
Published: 2017
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2. Genetic predisposition to in situ and invasive lobular carcinoma of the breast.

Author: 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, Gillian Ross, Paolo De Ieso, Melissa C Southey, John L Hopper, Elena Provenzano, Carmel Apicella, Jelle Wesseling, Sten Cornelissen, Renske Keeman, Peter A Fasching, Sebastian M Jud, Arif B Ekici, Matthias W Beckmann, Michael J Kerin, Federick Marme, Andreas Schneeweiss, Christof Sohn, Barbara Burwinkel, Pascal Guénel, Therese Truong, Pierre Laurent-Puig, Pierre Kerbrat, Stig E Bojesen, Børge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Roger L Milne, Jose Ignacio Arias Perez, Primitiva Menéndez, Javier Benitez, Hermann Brenner, Aida Karina Dieffenbach, Volker Arndt, Christa Stegmaier, Alfons Meindl, Peter Lichtner, Rita K Schmutzler, Magdalena Lochmann, Hiltrud Brauch, Hans-Peter Fischer, Yon-Dschun Ko, GENICA Network, Heli Nevanlinna, Taru A Muranen, Kristiina Aittomäki, Carl Blomqvist, Natalia V Bogdanova, Thilo Dörk, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Georgia Chenevix-Trench, KConFab Investigators, Diether Lambrechts, Caroline Weltens, Erik Van Limbergen, Sigrid Hatse, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Paolo Radice, Paolo Peterlongo, Bernardo Bonanni, Sara Volorio, Graham G Giles, Gianluca Severi, Laura Baglietto, Catriona A McLean, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, Jacques Simard, Mark S Goldberg, France Labrèche, Martine Dumont, Vessela Kristensen, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Saila Kauppila, Irene L Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Peter Devillee, Rob A E M Tollenaar, Caroline M Seynaeve, Mieke Kriege, Jonine Figueroa, Stephen J Chanock, Mark E Sherman, Maartje J Hooning, Antoinette Hollestelle, Ans M W van den Ouweland, Carolien H M van Deurzen, Jingmei Li, Kamila Czene, Keith Humphreys, Angela Cox, Simon S Cross, Malcolm W R Reed, Mitul Shah, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska-Bieniek, Katarzyna Durda, Anthony Swerdlow, Alan Ashworth, Nicholas Orr, Minouk Schoemaker, Fergus J Couch, Emily Hallberg, Anna González-Neira, Guillermo Pita, M Rosario Alonso, Daniel C Tessier, Daniel Vincent, Francois Bacot, Manjeet K Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Alison M Dunning, Per Hall, Doug Easton, Paul Pharoah, Marjanka K Schmidt, Ian Tomlinson, and Montserrat Garcia-Closas
Subjects: Genetics, QH426-470
Abstract: Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To identify novel common polymorphisms that predispose to ILC and LCIS, we pooled data from 6,023 cases (5,622 ILC, 401 pure LCIS) and 34,271 controls from 36 studies genotyped using the iCOGS chip. Six novel SNPs most strongly associated with ILC/LCIS in the pooled analysis were genotyped in a further 516 lobular cases (482 ILC, 36 LCIS) and 1,467 controls. These analyses identified a lobular-specific SNP at 7q34 (rs11977670, OR (95%CI) for ILC = 1.13 (1.09-1.18), P = 6.0 × 10(-10); P-het for ILC vs IDC ER+ tumors = 1.8 × 10(-4)). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and 15 with LCIS at P
Published: 2014
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3. MicroRNA related polymorphisms and breast cancer risk.

Author: 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, Olivia Fletcher, Julian Peto, Isabel dos Santos Silva, Nichola Johnson, Lorna Gibson, Zoe Aitken, John L Hopper, Helen Tsimiklis, Minh Bui, Enes Makalic, Daniel F Schmidt, Melissa C Southey, Carmel Apicella, Jennifer Stone, Quinten Waisfisz, Hanne Meijers-Heijboer, Muriel A Adank, Rob B van der Luijt, Alfons Meindl, Rita K Schmutzler, Bertram Müller-Myhsok, Peter Lichtner, Clare Turnbull, Nazneen Rahman, Stephen J Chanock, David J Hunter, Angela Cox, Simon S Cross, Malcolm W R Reed, Marjanka K Schmidt, Annegien Broeks, Laura J Van't Veer, Frans B Hogervorst, Peter A Fasching, Michael G Schrauder, Arif B Ekici, Matthias W Beckmann, Stig E Bojesen, Børge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Javier Benitez, Pilar M Zamora, Jose I A Perez, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, Paul D P Pharoah, Alison M Dunning, Mitul Shah, Robert Luben, Judith Brown, Fergus J Couch, Xianshu Wang, Celine Vachon, Janet E Olson, Diether Lambrechts, Matthieu Moisse, Robert Paridaens, Marie-Rose Christiaens, Pascal Guénel, Thérèse Truong, Pierre Laurent-Puig, Claire Mulot, Frederick Marme, Barbara Burwinkel, Andreas Schneeweiss, Christof Sohn, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Irene L Andrulis, Julia A Knight, Sandrine Tchatchou, Anna Marie Mulligan, Thilo Dörk, Natalia V Bogdanova, Natalia N Antonenkova, Hoda Anton-Culver, Hatef Darabi, Mikael Eriksson, Montserrat Garcia-Closas, Jonine Figueroa, Jolanta Lissowska, Louise Brinton, Peter Devilee, Robert A E M Tollenaar, Caroline Seynaeve, Christi J van Asperen, Vessela N Kristensen, kConFab Investigators, Australian Ovarian Cancer Study Group, Susan Slager, Amanda E Toland, Christine B Ambrosone, Drakoulis Yannoukakos, Annika Lindblom, Sara Margolin, Paolo Radice, Paolo Peterlongo, Monica Barile, Paolo Mariani, Maartje J Hooning, John W M Martens, J Margriet Collée, Agnes Jager, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska-Bieniek, Katarzyna Durda, Graham G Giles, Catriona McLean, Hiltrud Brauch, Thomas Brüning, Yon-Dschun Ko, GENICA Network, Hermann Brenner, Aida Karina Dieffenbach, Volker Arndt, Christa Stegmaier, Anthony Swerdlow, Alan Ashworth, Nick Orr, Michael Jones, Jacques Simard, Mark S Goldberg, France Labrèche, Martine Dumont, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Arto Mannermaa, Ute Hamann, Georgia Chenevix-Trench, Carl Blomqvist, Kristiina Aittomäki, Douglas F Easton, and Heli Nevanlinna
Subjects: Medicine, Science
Abstract: Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. DROSHA belongs to miRNA machinery genes and has a central role in initial miRNA processing. The remaining genes are involved in different molecular functions, including apoptosis and gene expression regulation. Further studies are warranted to elucidate whether the miRNA binding site SNPs are the causative variants for the observed risk effects.
Published: 2014
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4. Supplementary Table 4 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author: Douglas F. Easton, Georgia Chenevix-Trench, Qin Wang, Manjeet K. Humphreys, Xianshu Wang, Janet E. Olson, Albina Farahtdinova, Darya Prokofieva, Marina Bermisheva, Elza Khusnutdinova, Madeleine Tilanus-Linthorst, Rogier A. Oldenburg, Antoinette Hollestelle, Maartje Hooning, Mervi Grip, Arja Jukkola-Vuorinen, Katri Pylkäs, Robert Winqvist, Christina Justenhoven, Volker Harth, Ute Hamann, Jonathan Beesley, Xiaoqing Chen, Sara Lindstrom, Peter Kraft, Susan E. Hankinson, David J. Hunter, Sei-Hyun Ahn, Dong-Young Noh, Keun-Young Yoo, Daehee Kang, Katarzyna Durda, Katarzyna Jaworska, Jan Lubinski, Anna Jakubowska, Barbara Burwinkel, Christof Sohn, Andreas Schneeweiss, Frederik Marme, Karen A. Pooley, Alison M. Dunning, Paul D.P. Pharoah, Rob A.E.M. Tollenaar, Laura J. Van ‘t Veer, Annegien Broeks, Marjanka K. Schmidt, Nicola Miller, Michael Kerin, Ian Tomlinson, Elinor Sawyer, Argyrios Ziogas, Hoda Anton-Culver, Dieter Flesch-Janys, Stefan Nickels, Julian Peto, Isabel dos Santos Silva, Lorna J. Gibson, Olivia Fletcher, Robert N. Hoover, Gilles D. Thomas, Rita K. Schmutzler, Claus R. Bartram, Joerg Heil, Alfons Meindl, Jaana M. Hartikainen, Veli-Matti Kosma, Vesa Kataja, Arto Mannermaa, Anna Marie Mulligan, Gord Glendon, Julia A. Knight, Irene L. Andrulis, Christa Stegmaier, Volker Arndt, Heiko Müller, Hermann Brenner, Matthias W. Beckmann, Arif B. Ekici, Christian M. Bayer, Peter A. Fasching, Yuri I. Rogov, Iosif V. Zalutsky, Natalia N. Antonenkova, Natalia V. Bogdanova, Jonine D. Figueroa, Mark E. Sherman, Jolanta Lissowska, Stephen J. Chanock, Alexander Miron, Esther M. John, Laura Baglietto, Graham G. Giles, Monica Barile, Siranoush Manoukian, Paolo Peterlongo, Paolo Radice, Shan Wang-Gohrke, Jenny Chang-Claude, James McKay, Paul Brennan, Valerie Gaborieau, Suleeporn Sangrajrang, Karin Leunen, Giuseppe Floris, Betül T. Yesilyurt, Diether Lambrechts, Melissa C. Southey, Carmel Apicella, Gillian S. Dite, John L. Hopper, Anne-Lise Børrensen-Dale, Vessela Kristensen, Grethe Grenaker Alnæs, Charlotte Lanng, Stig E. Bojesen, Børge G. Nordestgaard, Ming-Feng Hou, Chiun-Sheng Huang, Jyh-Cherng Yu, Chen-Yang Shen, Nazneen Rahman, Anthony Renwick, Clare Turnbull, Sheila Seal, Simon S. Cross, Graeme Elliot, Ian W. Brock, Angela Cox, Peter Hillemanns, Johann H. Karstens, Peter Schürmann, Thilo Dörk, Javier Benítez, Jose Ignacio Arias Pérez, M. Pilar Zamora, Núria Malats, Zachary Fredericksen, Rebecca Hein, Gianluca Severi, Fergus J. Couch, Montserrat García-Closas, Ellen L. Goode, and Roger L. Milne
Abstract: PDF file - 70K
Published: 2023
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5. Supplementary Table 2 from 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Author: Isabel dos-Santos-Silva, Julian Peto, Qin Wang, Manjeet Humphreys, Douglas F. Easton, Minouk Schoemaker, Michael Jones, Anthony Swerdlow, Alan Ashworth, Maya Ghoussaini, Alison M. Dunning, Fiona M. Blows, Paul Pharoah, Malcolm W.R. Reed, Ian W. Brock, Simon S. Cross, Angela Cox, Jingmei Li, Jianjun Liu, Kamila Czene, Per Hall, Madeleine M.A. Tilanus-Linthorst, Agnes Jager, Antoinette Hollestelle, Maartje J. Hooning, Caroline M. Seynaeve, John W.M. Martens, Robert A.E.M. Tollenaar, Peter Devilee, Nayana Weerasooriya, Anna Marie Mulligan, Julia A. Knight, Irene L. Andrulis, Mervi Grip, Arja Jukkola-Vuorinen, Katri Pylkäs, Robert Winqvist, Alexander Miron, Esther M. John, Gianluca Severi, Cariona A. McLean, Laura Baglietto, Graham Giles, Janet Olson, Xianshu Wang, Celine Vachon, Fergus J. Couch, Paolo Radice, Siranoush Manoukian, Loris Bernard, Paolo Peterlongo, Sabine Behrens, Katharina Buck, Dieter Flesch-Janys, Caroline Weltens, Robert Paridaens, Ann Smeets, Diether Lambrechts, Xiaoqing Chen, Jonathan Beesley, Georgia Chenevix-Trench, Vesa Kataja, Jaana M. Hartikainen, Veli-Matti Kosma, Arto Mannermaa, Sara Margolin, Annika Lindblom, Elza Khusnutdinova, Guzel Zinnatullina, Darya Prokofyeva, Marina Bermisheva, Yuriy Rogov, Natalia Antonenkova, Natalia Bogdanova, Carl Blomqvist, Kristiina Aittomäki, Taru A. Muranen, Heli Nevanlinna, Peter Hillemanns, Michael Bremer, Peter Schürmann, Thilo Dörk, Ursula Eilber, Shan Wang-Gohrke, Jenny Chang-Claude, Thomas Brüning, Christina Justenhoven, Hiltrud Brauch, Rita K. Schmutzler, Claus R. Bartram, Michael Golatta, Alfons Meindl, Anne Langheinz, Volker Arndt, Heiko Müller, Hermann Brenner, Christina Clarke Dur, Leslie Bernstein, Argyrios Ziogas, Hoda Anton-Culver, M. Pilar Zamora, José-Ignacio Arias-Pérez, Javier Benítez, Roger L. Milne, Børge G Nordestgaard, Henrik Flyger, Sune F. Nielsen, Stig E Bojesen, Claire Mulot, Pierre Laurent-Puig, Thérèse Truong, Pascal Guénel, Christof Sohn, Andreas Schneeweiss, Frederik Marme, Barbara Burwinkel, Michael Kerin, Ian Tomlinson, Elinor J. Sawyer, Ruediger Schulz-Wendtland, Arif B. Ekici, Matthias W. Beckmann, Peter A. Fasching, Surapon Wiangnon, Arkom Chaiwerawattana, Artitaya Lophatananon, Kenneth R. Muir, Linda M. Braaf, Sten Cornelissen, Annegien Broeks, Marjanka K. Schmidt, Maryam Mahmoodi, Melissa C. Southey, Carmel Apicella, John L. Hopper, Nichola Johnson, Nick Orr, Olivia Fletcher, Frank Dudbridge, and Helen Warren
Abstract: PDF file, 70K, Availability of information on tumor morphology and receptor status for Europeans, by each included BCAC study.
Published: 2023
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6. Data from A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age

Author: Alice S. Whittemore, Nancy J. Cox, Douglas F. Easton, Dan Nicolae, Fernando Rivadeneira, Andre G. Uitterlinden, Hanne Meijers-Heijboer, Quinten Waisfisz, Paul Pharoah, Alison M. Dunning, Clare Turnbull, Nazneen Rahman, Jianjun Liu, Astrid Irwanto, Kamila Czene, Per Hall, Carl Blomqvist, Kristiina Aittomäki, Heli Nevanlinna, Norbert Dahmen, Dieter Flesch-Janys, Jennifer Stone, Quang Minh Bui, Daniel F. Schmidt, Enes Makalic, Rebecca Hein, Lars Beckmann, Magdalena Lochmann, Bertram Müller-Myhsok, Rita K. Schmutzler, Alfons Meindl, Stephen J. Chanock, David J. Hunter, Mark Lathrop, Isabel dos Santos Silva, Olivia Fletcher, Julian Peto, Daniel J. Park, Carmel Apicella, Kyriaki Michailidou, Polly Newcomb, Noralane M. Lindor, Mark Jenkins, Robert Haile, Steve Gallinger, David Duggan, David Conti, Eunjung Lee, Regina M. Santella, Graham G. Giles, Melissa C. Southey, Julia A. Knight, Graham Casey, Daniela Seminara, Duncan C. Thomas, Marilie D. Gammon, Giske Ursin, Kathi Malone, Esther M. John, John L. Hopper, Irene Andrulis, Jenny Chang-Claude, Stephanie Melkonian, Maria Argos, Rachelle Brutus, Shantanu Roy, Farzana Jasmine, Jianxin Shi, Anna Felberg, Valerie McGuire, Eric Gamazon, Lin Tong, Brandon L. Pierce, Muhammad G. Kibriya, Jerry Halpern, and Habibul Ahsan
Abstract: Early-onset breast cancer (EOBC) causes substantial loss of life and productivity, creating a major burden among women worldwide. We analyzed 1,265,548 Hapmap3 single-nucleotide polymorphisms (SNP) among a discovery set of 3,523 EOBC incident cases and 2,702 population control women ages ≤ 51 years. The SNPs with smallest P values were examined in a replication set of 3,470 EOBC cases and 5,475 control women. We also tested EOBC association with 19,684 genes by annotating each gene with putative functional SNPs, and then combining their P values to obtain a gene-based P value. We examined the gene with smallest P value for replication in 1,145 breast cancer cases and 1,142 control women. The combined discovery and replication sets identified 72 new SNPs associated with EOBC (P < 4 × 10−8) located in six genomic regions previously reported to contain SNPs associated largely with later-onset breast cancer (LOBC). SNP rs2229882 and 10 other SNPs on chromosome 5q11.2 remained associated (P < 6 × 10−4) after adjustment for the strongest published SNPs in the region. Thirty-two of the 82 currently known LOBC SNPs were associated with EOBC (P < 0.05). Low power is likely responsible for the remaining 50 unassociated known LOBC SNPs. The gene-based analysis identified an association between breast cancer and the phosphofructokinase-muscle (PFKM) gene on chromosome 12q13.11 that met the genome-wide gene-based threshold of 2.5 × 10−6. In conclusion, EOBC and LOBC seem to have similar genetic etiologies; the 5q11.2 region may contain multiple distinct breast cancer loci; and the PFKM gene region is worthy of further investigation. These findings should enhance our understanding of the etiology of breast cancer. Cancer Epidemiol Biomarkers Prev; 23(4); 658–69. ©2014 AACR.
Published: 2023
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7. Supplementary Tables 1 - 4 from Common Breast Cancer Susceptibility Variants in LSP1 and RAD51L1 Are Associated with Mammographic Density Measures that Predict Breast Cancer Risk

Author: Isabel dos-Santos-Silva, John L. Hopper, V. Shane Pankratz, Anna H. Wu, Tina Audley, Kamila Czene, Louise Eriksson, JianJun Liu, Edyta Reszka, Agnieszka Bukowska, Beata Peplonska, Ewa Wesolowska, Jolanta Lissowska, Jonine D. Figuero, Norman F. Boyd, Julia A. Knight, Irene L. Andrulis, David J. Hunter, Susan E. Hankinson, Sara Lindström, Anne-Lise Børresen-Dale, Vessela N. Kristensen, Inger Torhild Gram, Grethe I.G. Alnaes, Margarethe Biong, Valeria A. McCormack, Nichola Johnson, Kate Walker, Christopher A. Haiman, Gertraud Maskarinec, Christy Woolcott, Laurence N. Kolonel, Loic Le Marchand, Melissa C. Southey, Kavitha Krishnan, Laura Baglietto, Graham G. Giles, Fergus J. Couch, Gek Kwan-Lim, Martin O. Leach, Rosalind A. Eeles, Susan J. Ramus, Simon A. Gayther, Eunjung Lee, Giske Ursin, Kay-Tee Khaw, Ruth J.F. Loos, Nicholas J. Wareham, Ruth M.L. Warren, Robert N. Luben, Deborah J. Thompson, Douglas F. Easton, Jajini S. Varghese, Jean Leyland, Judith Brown, Petra H.M. Peeters, N. Charlotte Onland-Moret, Mariëtte Lokate, Carla H. van Gils, Javier Benitez, Anna Gonzalez-Neira, Pablo Fernández-Navarro, Marina Pollan, Matthias W. Beckmann, Katharina Heusinger, Sebastian M. Jud, Gretchen L. Gierach, Fabrice Odefrey, Carmel Apicella, Jennifer Stone, Jingmei Li, Rulla M. Tamimi, Per Hall, Peter A. Fasching, Christopher G. Scott, and Celine M. Vachon
Abstract: PDF file, 120KB, Supplemental Table 1. Study Descriptions, Design and Sample Size for 19 DENSNP Studies. Caucasian Women Only. Supplemental Table 2. Source and Timing of Reproductive and Anthropometric Variable Collection. Supplemental Table 3. Description of Mammogram View, Side, Film Digitizer and Density Estimation Software for DENSNP Studies. Supplemental Table 4. Genotyping Platform and SNP Call Rates Performed by Each Study.
Published: 2023
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8. Supplementary Table 5 from Common Breast Cancer Susceptibility Variants in LSP1 and RAD51L1 Are Associated with Mammographic Density Measures that Predict Breast Cancer Risk

Author: Isabel dos-Santos-Silva, John L. Hopper, V. Shane Pankratz, Anna H. Wu, Tina Audley, Kamila Czene, Louise Eriksson, JianJun Liu, Edyta Reszka, Agnieszka Bukowska, Beata Peplonska, Ewa Wesolowska, Jolanta Lissowska, Jonine D. Figuero, Norman F. Boyd, Julia A. Knight, Irene L. Andrulis, David J. Hunter, Susan E. Hankinson, Sara Lindström, Anne-Lise Børresen-Dale, Vessela N. Kristensen, Inger Torhild Gram, Grethe I.G. Alnaes, Margarethe Biong, Valeria A. McCormack, Nichola Johnson, Kate Walker, Christopher A. Haiman, Gertraud Maskarinec, Christy Woolcott, Laurence N. Kolonel, Loic Le Marchand, Melissa C. Southey, Kavitha Krishnan, Laura Baglietto, Graham G. Giles, Fergus J. Couch, Gek Kwan-Lim, Martin O. Leach, Rosalind A. Eeles, Susan J. Ramus, Simon A. Gayther, Eunjung Lee, Giske Ursin, Kay-Tee Khaw, Ruth J.F. Loos, Nicholas J. Wareham, Ruth M.L. Warren, Robert N. Luben, Deborah J. Thompson, Douglas F. Easton, Jajini S. Varghese, Jean Leyland, Judith Brown, Petra H.M. Peeters, N. Charlotte Onland-Moret, Mariëtte Lokate, Carla H. van Gils, Javier Benitez, Anna Gonzalez-Neira, Pablo Fernández-Navarro, Marina Pollan, Matthias W. Beckmann, Katharina Heusinger, Sebastian M. Jud, Gretchen L. Gierach, Fabrice Odefrey, Carmel Apicella, Jennifer Stone, Jingmei Li, Rulla M. Tamimi, Per Hall, Peter A. Fasching, Christopher G. Scott, and Celine M. Vachon
Abstract: PDF file, 20KB, Supplemental Table 5a. Associations of Common Breast Cancer Susceptibility Variants with Adjusted Percent Mammographic Density. Supplemental Table 5b. Associations of Common Breast Cancer Susceptibility Variants with Adjusted Mammographic Dense Area. Supplemental Table 5c. Associations of Common Breast Cancer Susceptibility Variants with Adjusted Mammographic Non Dense Area.
Published: 2023
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9. Supplementary Table 3 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author: Douglas F. Easton, Georgia Chenevix-Trench, Qin Wang, Manjeet K. Humphreys, Xianshu Wang, Janet E. Olson, Albina Farahtdinova, Darya Prokofieva, Marina Bermisheva, Elza Khusnutdinova, Madeleine Tilanus-Linthorst, Rogier A. Oldenburg, Antoinette Hollestelle, Maartje Hooning, Mervi Grip, Arja Jukkola-Vuorinen, Katri Pylkäs, Robert Winqvist, Christina Justenhoven, Volker Harth, Ute Hamann, Jonathan Beesley, Xiaoqing Chen, Sara Lindstrom, Peter Kraft, Susan E. Hankinson, David J. Hunter, Sei-Hyun Ahn, Dong-Young Noh, Keun-Young Yoo, Daehee Kang, Katarzyna Durda, Katarzyna Jaworska, Jan Lubinski, Anna Jakubowska, Barbara Burwinkel, Christof Sohn, Andreas Schneeweiss, Frederik Marme, Karen A. Pooley, Alison M. Dunning, Paul D.P. Pharoah, Rob A.E.M. Tollenaar, Laura J. Van ‘t Veer, Annegien Broeks, Marjanka K. Schmidt, Nicola Miller, Michael Kerin, Ian Tomlinson, Elinor Sawyer, Argyrios Ziogas, Hoda Anton-Culver, Dieter Flesch-Janys, Stefan Nickels, Julian Peto, Isabel dos Santos Silva, Lorna J. Gibson, Olivia Fletcher, Robert N. Hoover, Gilles D. Thomas, Rita K. Schmutzler, Claus R. Bartram, Joerg Heil, Alfons Meindl, Jaana M. Hartikainen, Veli-Matti Kosma, Vesa Kataja, Arto Mannermaa, Anna Marie Mulligan, Gord Glendon, Julia A. Knight, Irene L. Andrulis, Christa Stegmaier, Volker Arndt, Heiko Müller, Hermann Brenner, Matthias W. Beckmann, Arif B. Ekici, Christian M. Bayer, Peter A. Fasching, Yuri I. Rogov, Iosif V. Zalutsky, Natalia N. Antonenkova, Natalia V. Bogdanova, Jonine D. Figueroa, Mark E. Sherman, Jolanta Lissowska, Stephen J. Chanock, Alexander Miron, Esther M. John, Laura Baglietto, Graham G. Giles, Monica Barile, Siranoush Manoukian, Paolo Peterlongo, Paolo Radice, Shan Wang-Gohrke, Jenny Chang-Claude, James McKay, Paul Brennan, Valerie Gaborieau, Suleeporn Sangrajrang, Karin Leunen, Giuseppe Floris, Betül T. Yesilyurt, Diether Lambrechts, Melissa C. Southey, Carmel Apicella, Gillian S. Dite, John L. Hopper, Anne-Lise Børrensen-Dale, Vessela Kristensen, Grethe Grenaker Alnæs, Charlotte Lanng, Stig E. Bojesen, Børge G. Nordestgaard, Ming-Feng Hou, Chiun-Sheng Huang, Jyh-Cherng Yu, Chen-Yang Shen, Nazneen Rahman, Anthony Renwick, Clare Turnbull, Sheila Seal, Simon S. Cross, Graeme Elliot, Ian W. Brock, Angela Cox, Peter Hillemanns, Johann H. Karstens, Peter Schürmann, Thilo Dörk, Javier Benítez, Jose Ignacio Arias Pérez, M. Pilar Zamora, Núria Malats, Zachary Fredericksen, Rebecca Hein, Gianluca Severi, Fergus J. Couch, Montserrat García-Closas, Ellen L. Goode, and Roger L. Milne
Abstract: PDF file - 71K
Published: 2023
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10. Supplementary Table 2 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author: Douglas F. Easton, Georgia Chenevix-Trench, Qin Wang, Manjeet K. Humphreys, Xianshu Wang, Janet E. Olson, Albina Farahtdinova, Darya Prokofieva, Marina Bermisheva, Elza Khusnutdinova, Madeleine Tilanus-Linthorst, Rogier A. Oldenburg, Antoinette Hollestelle, Maartje Hooning, Mervi Grip, Arja Jukkola-Vuorinen, Katri Pylkäs, Robert Winqvist, Christina Justenhoven, Volker Harth, Ute Hamann, Jonathan Beesley, Xiaoqing Chen, Sara Lindstrom, Peter Kraft, Susan E. Hankinson, David J. Hunter, Sei-Hyun Ahn, Dong-Young Noh, Keun-Young Yoo, Daehee Kang, Katarzyna Durda, Katarzyna Jaworska, Jan Lubinski, Anna Jakubowska, Barbara Burwinkel, Christof Sohn, Andreas Schneeweiss, Frederik Marme, Karen A. Pooley, Alison M. Dunning, Paul D.P. Pharoah, Rob A.E.M. Tollenaar, Laura J. Van ‘t Veer, Annegien Broeks, Marjanka K. Schmidt, Nicola Miller, Michael Kerin, Ian Tomlinson, Elinor Sawyer, Argyrios Ziogas, Hoda Anton-Culver, Dieter Flesch-Janys, Stefan Nickels, Julian Peto, Isabel dos Santos Silva, Lorna J. Gibson, Olivia Fletcher, Robert N. Hoover, Gilles D. Thomas, Rita K. Schmutzler, Claus R. Bartram, Joerg Heil, Alfons Meindl, Jaana M. Hartikainen, Veli-Matti Kosma, Vesa Kataja, Arto Mannermaa, Anna Marie Mulligan, Gord Glendon, Julia A. Knight, Irene L. Andrulis, Christa Stegmaier, Volker Arndt, Heiko Müller, Hermann Brenner, Matthias W. Beckmann, Arif B. Ekici, Christian M. Bayer, Peter A. Fasching, Yuri I. Rogov, Iosif V. Zalutsky, Natalia N. Antonenkova, Natalia V. Bogdanova, Jonine D. Figueroa, Mark E. Sherman, Jolanta Lissowska, Stephen J. Chanock, Alexander Miron, Esther M. John, Laura Baglietto, Graham G. Giles, Monica Barile, Siranoush Manoukian, Paolo Peterlongo, Paolo Radice, Shan Wang-Gohrke, Jenny Chang-Claude, James McKay, Paul Brennan, Valerie Gaborieau, Suleeporn Sangrajrang, Karin Leunen, Giuseppe Floris, Betül T. Yesilyurt, Diether Lambrechts, Melissa C. Southey, Carmel Apicella, Gillian S. Dite, John L. Hopper, Anne-Lise Børrensen-Dale, Vessela Kristensen, Grethe Grenaker Alnæs, Charlotte Lanng, Stig E. Bojesen, Børge G. Nordestgaard, Ming-Feng Hou, Chiun-Sheng Huang, Jyh-Cherng Yu, Chen-Yang Shen, Nazneen Rahman, Anthony Renwick, Clare Turnbull, Sheila Seal, Simon S. Cross, Graeme Elliot, Ian W. Brock, Angela Cox, Peter Hillemanns, Johann H. Karstens, Peter Schürmann, Thilo Dörk, Javier Benítez, Jose Ignacio Arias Pérez, M. Pilar Zamora, Núria Malats, Zachary Fredericksen, Rebecca Hein, Gianluca Severi, Fergus J. Couch, Montserrat García-Closas, Ellen L. Goode, and Roger L. Milne
Abstract: PDF file - 94K
Published: 2023
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11. Data from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author: Douglas F. Easton, Georgia Chenevix-Trench, Qin Wang, Manjeet K. Humphreys, Xianshu Wang, Janet E. Olson, Albina Farahtdinova, Darya Prokofieva, Marina Bermisheva, Elza Khusnutdinova, Madeleine Tilanus-Linthorst, Rogier A. Oldenburg, Antoinette Hollestelle, Maartje Hooning, Mervi Grip, Arja Jukkola-Vuorinen, Katri Pylkäs, Robert Winqvist, Christina Justenhoven, Volker Harth, Ute Hamann, Jonathan Beesley, Xiaoqing Chen, Sara Lindstrom, Peter Kraft, Susan E. Hankinson, David J. Hunter, Sei-Hyun Ahn, Dong-Young Noh, Keun-Young Yoo, Daehee Kang, Katarzyna Durda, Katarzyna Jaworska, Jan Lubinski, Anna Jakubowska, Barbara Burwinkel, Christof Sohn, Andreas Schneeweiss, Frederik Marme, Karen A. Pooley, Alison M. Dunning, Paul D.P. Pharoah, Rob A.E.M. Tollenaar, Laura J. Van ‘t Veer, Annegien Broeks, Marjanka K. Schmidt, Nicola Miller, Michael Kerin, Ian Tomlinson, Elinor Sawyer, Argyrios Ziogas, Hoda Anton-Culver, Dieter Flesch-Janys, Stefan Nickels, Julian Peto, Isabel dos Santos Silva, Lorna J. Gibson, Olivia Fletcher, Robert N. Hoover, Gilles D. Thomas, Rita K. Schmutzler, Claus R. Bartram, Joerg Heil, Alfons Meindl, Jaana M. Hartikainen, Veli-Matti Kosma, Vesa Kataja, Arto Mannermaa, Anna Marie Mulligan, Gord Glendon, Julia A. Knight, Irene L. Andrulis, Christa Stegmaier, Volker Arndt, Heiko Müller, Hermann Brenner, Matthias W. Beckmann, Arif B. Ekici, Christian M. Bayer, Peter A. Fasching, Yuri I. Rogov, Iosif V. Zalutsky, Natalia N. Antonenkova, Natalia V. Bogdanova, Jonine D. Figueroa, Mark E. Sherman, Jolanta Lissowska, Stephen J. Chanock, Alexander Miron, Esther M. John, Laura Baglietto, Graham G. Giles, Monica Barile, Siranoush Manoukian, Paolo Peterlongo, Paolo Radice, Shan Wang-Gohrke, Jenny Chang-Claude, James McKay, Paul Brennan, Valerie Gaborieau, Suleeporn Sangrajrang, Karin Leunen, Giuseppe Floris, Betül T. Yesilyurt, Diether Lambrechts, Melissa C. Southey, Carmel Apicella, Gillian S. Dite, John L. Hopper, Anne-Lise Børrensen-Dale, Vessela Kristensen, Grethe Grenaker Alnæs, Charlotte Lanng, Stig E. Bojesen, Børge G. Nordestgaard, Ming-Feng Hou, Chiun-Sheng Huang, Jyh-Cherng Yu, Chen-Yang Shen, Nazneen Rahman, Anthony Renwick, Clare Turnbull, Sheila Seal, Simon S. Cross, Graeme Elliot, Ian W. Brock, Angela Cox, Peter Hillemanns, Johann H. Karstens, Peter Schürmann, Thilo Dörk, Javier Benítez, Jose Ignacio Arias Pérez, M. Pilar Zamora, Núria Malats, Zachary Fredericksen, Rebecca Hein, Gianluca Severi, Fergus J. Couch, Montserrat García-Closas, Ellen L. Goode, and Roger L. Milne
Abstract: Background: The single-nucleotide polymorphism (SNP) 5p12-rs10941679 has been found to be associated with risk of breast cancer, particularly estrogen receptor (ER)-positive disease. We aimed to further explore this association overall, and by tumor histopathology, in the Breast Cancer Association Consortium.Methods: Data were combined from 37 studies, including 40,972 invasive cases, 1,398 cases of ductal carcinoma in situ (DCIS), and 46,334 controls, all of white European ancestry, as well as 3,007 invasive cases and 2,337 controls of Asian ancestry. Associations overall and by tumor invasiveness and histopathology were assessed using logistic regression.Results: For white Europeans, the per-allele OR associated with 5p12-rs10941679 was 1.11 (95% CI = 1.08–1.14, P = 7 × 10−18) for invasive breast cancer and 1.10 (95% CI = 1.01–1.21, P = 0.03) for DCIS. For Asian women, the estimated OR for invasive disease was similar (OR = 1.07, 95%CI = 0.99–1.15, P = 0.09). Further analyses suggested that the association in white Europeans was largely limited to progesterone receptor (PR)-positive disease (per-allele OR = 1.16, 95% CI = 1.12–1.20, P = 1 × 10−18 vs. OR = 1.03, 95% CI = 0.99–1.07, P = 0.2 for PR-negative disease; Pheterogeneity = 2 × 10−7); heterogeneity by ER status was not observed (P = 0.2) once PR status was accounted for. The association was also stronger for lower grade tumors [per-allele OR (95% CI) = 1.20 (1.14–1.25), 1.13 (1.09–1.16), and 1.04 (0.99–1.08) for grade 1, 2, and 3/4, respectively; Ptrend = 5 × 10−7].Conclusion: 5p12 is a breast cancer susceptibility locus for PR-positive, lower grade breast cancer.Impact: Multicenter fine-mapping studies of this region are needed as a first step to identifying the causal variant or variants. Cancer Epidemiol Biomarkers Prev; 20(10); 2222–31. ©2011 AACR.
Published: 2023
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12. Supplementary Table Legend from 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Author: Isabel dos-Santos-Silva, Julian Peto, Qin Wang, Manjeet Humphreys, Douglas F. Easton, Minouk Schoemaker, Michael Jones, Anthony Swerdlow, Alan Ashworth, Maya Ghoussaini, Alison M. Dunning, Fiona M. Blows, Paul Pharoah, Malcolm W.R. Reed, Ian W. Brock, Simon S. Cross, Angela Cox, Jingmei Li, Jianjun Liu, Kamila Czene, Per Hall, Madeleine M.A. Tilanus-Linthorst, Agnes Jager, Antoinette Hollestelle, Maartje J. Hooning, Caroline M. Seynaeve, John W.M. Martens, Robert A.E.M. Tollenaar, Peter Devilee, Nayana Weerasooriya, Anna Marie Mulligan, Julia A. Knight, Irene L. Andrulis, Mervi Grip, Arja Jukkola-Vuorinen, Katri Pylkäs, Robert Winqvist, Alexander Miron, Esther M. John, Gianluca Severi, Cariona A. McLean, Laura Baglietto, Graham Giles, Janet Olson, Xianshu Wang, Celine Vachon, Fergus J. Couch, Paolo Radice, Siranoush Manoukian, Loris Bernard, Paolo Peterlongo, Sabine Behrens, Katharina Buck, Dieter Flesch-Janys, Caroline Weltens, Robert Paridaens, Ann Smeets, Diether Lambrechts, Xiaoqing Chen, Jonathan Beesley, Georgia Chenevix-Trench, Vesa Kataja, Jaana M. Hartikainen, Veli-Matti Kosma, Arto Mannermaa, Sara Margolin, Annika Lindblom, Elza Khusnutdinova, Guzel Zinnatullina, Darya Prokofyeva, Marina Bermisheva, Yuriy Rogov, Natalia Antonenkova, Natalia Bogdanova, Carl Blomqvist, Kristiina Aittomäki, Taru A. Muranen, Heli Nevanlinna, Peter Hillemanns, Michael Bremer, Peter Schürmann, Thilo Dörk, Ursula Eilber, Shan Wang-Gohrke, Jenny Chang-Claude, Thomas Brüning, Christina Justenhoven, Hiltrud Brauch, Rita K. Schmutzler, Claus R. Bartram, Michael Golatta, Alfons Meindl, Anne Langheinz, Volker Arndt, Heiko Müller, Hermann Brenner, Christina Clarke Dur, Leslie Bernstein, Argyrios Ziogas, Hoda Anton-Culver, M. Pilar Zamora, José-Ignacio Arias-Pérez, Javier Benítez, Roger L. Milne, Børge G Nordestgaard, Henrik Flyger, Sune F. Nielsen, Stig E Bojesen, Claire Mulot, Pierre Laurent-Puig, Thérèse Truong, Pascal Guénel, Christof Sohn, Andreas Schneeweiss, Frederik Marme, Barbara Burwinkel, Michael Kerin, Ian Tomlinson, Elinor J. Sawyer, Ruediger Schulz-Wendtland, Arif B. Ekici, Matthias W. Beckmann, Peter A. Fasching, Surapon Wiangnon, Arkom Chaiwerawattana, Artitaya Lophatananon, Kenneth R. Muir, Linda M. Braaf, Sten Cornelissen, Annegien Broeks, Marjanka K. Schmidt, Maryam Mahmoodi, Melissa C. Southey, Carmel Apicella, John L. Hopper, Nichola Johnson, Nick Orr, Olivia Fletcher, Frank Dudbridge, and Helen Warren
Abstract: PDF file, 45K.
Published: 2023
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13. Supplementary Table 6 from Common Breast Cancer Susceptibility Variants in LSP1 and RAD51L1 Are Associated with Mammographic Density Measures that Predict Breast Cancer Risk

Author: Isabel dos-Santos-Silva, John L. Hopper, V. Shane Pankratz, Anna H. Wu, Tina Audley, Kamila Czene, Louise Eriksson, JianJun Liu, Edyta Reszka, Agnieszka Bukowska, Beata Peplonska, Ewa Wesolowska, Jolanta Lissowska, Jonine D. Figuero, Norman F. Boyd, Julia A. Knight, Irene L. Andrulis, David J. Hunter, Susan E. Hankinson, Sara Lindström, Anne-Lise Børresen-Dale, Vessela N. Kristensen, Inger Torhild Gram, Grethe I.G. Alnaes, Margarethe Biong, Valeria A. McCormack, Nichola Johnson, Kate Walker, Christopher A. Haiman, Gertraud Maskarinec, Christy Woolcott, Laurence N. Kolonel, Loic Le Marchand, Melissa C. Southey, Kavitha Krishnan, Laura Baglietto, Graham G. Giles, Fergus J. Couch, Gek Kwan-Lim, Martin O. Leach, Rosalind A. Eeles, Susan J. Ramus, Simon A. Gayther, Eunjung Lee, Giske Ursin, Kay-Tee Khaw, Ruth J.F. Loos, Nicholas J. Wareham, Ruth M.L. Warren, Robert N. Luben, Deborah J. Thompson, Douglas F. Easton, Jajini S. Varghese, Jean Leyland, Judith Brown, Petra H.M. Peeters, N. Charlotte Onland-Moret, Mariëtte Lokate, Carla H. van Gils, Javier Benitez, Anna Gonzalez-Neira, Pablo Fernández-Navarro, Marina Pollan, Matthias W. Beckmann, Katharina Heusinger, Sebastian M. Jud, Gretchen L. Gierach, Fabrice Odefrey, Carmel Apicella, Jennifer Stone, Jingmei Li, Rulla M. Tamimi, Per Hall, Peter A. Fasching, Christopher G. Scott, and Celine M. Vachon
Abstract: PDF file, 133KB, Supplemental Table 6a. Per-Allele Association (SE) of Breast Cancer Susceptibility Variants with Mammographic Percent Density Stratifying by Case Status, BMI, Menopausal Status and PMH Use. Supplemental Table 6b. Per-Allele Associations (SE) of Breast Cancer Susceptibility Variants with Adjusted Mammographic Dense Area Stratifying by Case Status, BMI Menopausal Status and PMH Use. Supplemental Table 6c. Per-Allele Associations (SE) of Breast Cancer Susceptibility Variants with Adjusted Mammographic Non Dense Area Stratifying by Case Status, BMI Menopausal Status and PMH Use.
Published: 2023
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14. Supplementary Table 3 from 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Author: Isabel dos-Santos-Silva, Julian Peto, Qin Wang, Manjeet Humphreys, Douglas F. Easton, Minouk Schoemaker, Michael Jones, Anthony Swerdlow, Alan Ashworth, Maya Ghoussaini, Alison M. Dunning, Fiona M. Blows, Paul Pharoah, Malcolm W.R. Reed, Ian W. Brock, Simon S. Cross, Angela Cox, Jingmei Li, Jianjun Liu, Kamila Czene, Per Hall, Madeleine M.A. Tilanus-Linthorst, Agnes Jager, Antoinette Hollestelle, Maartje J. Hooning, Caroline M. Seynaeve, John W.M. Martens, Robert A.E.M. Tollenaar, Peter Devilee, Nayana Weerasooriya, Anna Marie Mulligan, Julia A. Knight, Irene L. Andrulis, Mervi Grip, Arja Jukkola-Vuorinen, Katri Pylkäs, Robert Winqvist, Alexander Miron, Esther M. John, Gianluca Severi, Cariona A. McLean, Laura Baglietto, Graham Giles, Janet Olson, Xianshu Wang, Celine Vachon, Fergus J. Couch, Paolo Radice, Siranoush Manoukian, Loris Bernard, Paolo Peterlongo, Sabine Behrens, Katharina Buck, Dieter Flesch-Janys, Caroline Weltens, Robert Paridaens, Ann Smeets, Diether Lambrechts, Xiaoqing Chen, Jonathan Beesley, Georgia Chenevix-Trench, Vesa Kataja, Jaana M. Hartikainen, Veli-Matti Kosma, Arto Mannermaa, Sara Margolin, Annika Lindblom, Elza Khusnutdinova, Guzel Zinnatullina, Darya Prokofyeva, Marina Bermisheva, Yuriy Rogov, Natalia Antonenkova, Natalia Bogdanova, Carl Blomqvist, Kristiina Aittomäki, Taru A. Muranen, Heli Nevanlinna, Peter Hillemanns, Michael Bremer, Peter Schürmann, Thilo Dörk, Ursula Eilber, Shan Wang-Gohrke, Jenny Chang-Claude, Thomas Brüning, Christina Justenhoven, Hiltrud Brauch, Rita K. Schmutzler, Claus R. Bartram, Michael Golatta, Alfons Meindl, Anne Langheinz, Volker Arndt, Heiko Müller, Hermann Brenner, Christina Clarke Dur, Leslie Bernstein, Argyrios Ziogas, Hoda Anton-Culver, M. Pilar Zamora, José-Ignacio Arias-Pérez, Javier Benítez, Roger L. Milne, Børge G Nordestgaard, Henrik Flyger, Sune F. Nielsen, Stig E Bojesen, Claire Mulot, Pierre Laurent-Puig, Thérèse Truong, Pascal Guénel, Christof Sohn, Andreas Schneeweiss, Frederik Marme, Barbara Burwinkel, Michael Kerin, Ian Tomlinson, Elinor J. Sawyer, Ruediger Schulz-Wendtland, Arif B. Ekici, Matthias W. Beckmann, Peter A. Fasching, Surapon Wiangnon, Arkom Chaiwerawattana, Artitaya Lophatananon, Kenneth R. Muir, Linda M. Braaf, Sten Cornelissen, Annegien Broeks, Marjanka K. Schmidt, Maryam Mahmoodi, Melissa C. Southey, Carmel Apicella, John L. Hopper, Nichola Johnson, Nick Orr, Olivia Fletcher, Frank Dudbridge, and Helen Warren
Abstract: PDF file, 57K, Genotyping characteristics of each BCAC participating study.
Published: 2023
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15. Data from 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Author: Isabel dos-Santos-Silva, Julian Peto, Qin Wang, Manjeet Humphreys, Douglas F. Easton, Minouk Schoemaker, Michael Jones, Anthony Swerdlow, Alan Ashworth, Maya Ghoussaini, Alison M. Dunning, Fiona M. Blows, Paul Pharoah, Malcolm W.R. Reed, Ian W. Brock, Simon S. Cross, Angela Cox, Jingmei Li, Jianjun Liu, Kamila Czene, Per Hall, Madeleine M.A. Tilanus-Linthorst, Agnes Jager, Antoinette Hollestelle, Maartje J. Hooning, Caroline M. Seynaeve, John W.M. Martens, Robert A.E.M. Tollenaar, Peter Devilee, Nayana Weerasooriya, Anna Marie Mulligan, Julia A. Knight, Irene L. Andrulis, Mervi Grip, Arja Jukkola-Vuorinen, Katri Pylkäs, Robert Winqvist, Alexander Miron, Esther M. John, Gianluca Severi, Cariona A. McLean, Laura Baglietto, Graham Giles, Janet Olson, Xianshu Wang, Celine Vachon, Fergus J. Couch, Paolo Radice, Siranoush Manoukian, Loris Bernard, Paolo Peterlongo, Sabine Behrens, Katharina Buck, Dieter Flesch-Janys, Caroline Weltens, Robert Paridaens, Ann Smeets, Diether Lambrechts, Xiaoqing Chen, Jonathan Beesley, Georgia Chenevix-Trench, Vesa Kataja, Jaana M. Hartikainen, Veli-Matti Kosma, Arto Mannermaa, Sara Margolin, Annika Lindblom, Elza Khusnutdinova, Guzel Zinnatullina, Darya Prokofyeva, Marina Bermisheva, Yuriy Rogov, Natalia Antonenkova, Natalia Bogdanova, Carl Blomqvist, Kristiina Aittomäki, Taru A. Muranen, Heli Nevanlinna, Peter Hillemanns, Michael Bremer, Peter Schürmann, Thilo Dörk, Ursula Eilber, Shan Wang-Gohrke, Jenny Chang-Claude, Thomas Brüning, Christina Justenhoven, Hiltrud Brauch, Rita K. Schmutzler, Claus R. Bartram, Michael Golatta, Alfons Meindl, Anne Langheinz, Volker Arndt, Heiko Müller, Hermann Brenner, Christina Clarke Dur, Leslie Bernstein, Argyrios Ziogas, Hoda Anton-Culver, M. Pilar Zamora, José-Ignacio Arias-Pérez, Javier Benítez, Roger L. Milne, Børge G Nordestgaard, Henrik Flyger, Sune F. Nielsen, Stig E Bojesen, Claire Mulot, Pierre Laurent-Puig, Thérèse Truong, Pascal Guénel, Christof Sohn, Andreas Schneeweiss, Frederik Marme, Barbara Burwinkel, Michael Kerin, Ian Tomlinson, Elinor J. Sawyer, Ruediger Schulz-Wendtland, Arif B. Ekici, Matthias W. Beckmann, Peter A. Fasching, Surapon Wiangnon, Arkom Chaiwerawattana, Artitaya Lophatananon, Kenneth R. Muir, Linda M. Braaf, Sten Cornelissen, Annegien Broeks, Marjanka K. Schmidt, Maryam Mahmoodi, Melissa C. Southey, Carmel Apicella, John L. Hopper, Nichola Johnson, Nick Orr, Olivia Fletcher, Frank Dudbridge, and Helen Warren
Abstract: Background: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686).Methods: To further investigate the rs865686–breast cancer association, we conducted a replication study within the Breast Cancer Association Consortium, which comprises 37 case–control studies (48,394 cases, 50,836 controls).Results: This replication study provides additional strong evidence of an inverse association between rs865686 and breast cancer risk [study-adjusted per G-allele OR, 0.90; 95% confidence interval (CI), 0.88; 0.91, P = 2.01 × 10−29] among women of European ancestry. There were ethnic differences in the estimated minor (G)-allele frequency among controls [0.09, 0.30, and 0.38 among, respectively, Asians, Eastern Europeans, and other Europeans; P for heterogeneity (Phet) = 1.3 × 10−143], but no evidence of ethnic differences in per allele OR (Phet = 0.43). rs865686 was associated with estrogen receptor–positive (ER+) disease (per G-allele OR, 0.89; 95% CI, 0.86–0.91; P = 3.13 × 10−22) but less strongly, if at all, with ER-negative (ER−) disease (OR, 0.98; 95% CI, 0.94–1.02; P = 0.26; Phet = 1.16 × 10−6), with no evidence of independent heterogeneity by progesterone receptor or HER2 status. The strength of the breast cancer association decreased with increasing age at diagnosis, with case-only analysis showing a trend in the number of copies of the G allele with increasing age at diagnosis (P for linear trend = 0.0095), but only among women with ER+ tumors.Conclusions: This study is the first to show that rs865686 is a susceptibility marker for ER+ breast cancer.Impact: The findings further support the view that genetic susceptibility varies according to tumor subtype. Cancer Epidemiol Biomarkers Prev; 21(10); 1783–. ©2012 AACR.
Published: 2023
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16. Data from Common Breast Cancer Susceptibility Variants in LSP1 and RAD51L1 Are Associated with Mammographic Density Measures that Predict Breast Cancer Risk

Author: Isabel dos-Santos-Silva, John L. Hopper, V. Shane Pankratz, Anna H. Wu, Tina Audley, Kamila Czene, Louise Eriksson, JianJun Liu, Edyta Reszka, Agnieszka Bukowska, Beata Peplonska, Ewa Wesolowska, Jolanta Lissowska, Jonine D. Figuero, Norman F. Boyd, Julia A. Knight, Irene L. Andrulis, David J. Hunter, Susan E. Hankinson, Sara Lindström, Anne-Lise Børresen-Dale, Vessela N. Kristensen, Inger Torhild Gram, Grethe I.G. Alnaes, Margarethe Biong, Valeria A. McCormack, Nichola Johnson, Kate Walker, Christopher A. Haiman, Gertraud Maskarinec, Christy Woolcott, Laurence N. Kolonel, Loic Le Marchand, Melissa C. Southey, Kavitha Krishnan, Laura Baglietto, Graham G. Giles, Fergus J. Couch, Gek Kwan-Lim, Martin O. Leach, Rosalind A. Eeles, Susan J. Ramus, Simon A. Gayther, Eunjung Lee, Giske Ursin, Kay-Tee Khaw, Ruth J.F. Loos, Nicholas J. Wareham, Ruth M.L. Warren, Robert N. Luben, Deborah J. Thompson, Douglas F. Easton, Jajini S. Varghese, Jean Leyland, Judith Brown, Petra H.M. Peeters, N. Charlotte Onland-Moret, Mariëtte Lokate, Carla H. van Gils, Javier Benitez, Anna Gonzalez-Neira, Pablo Fernández-Navarro, Marina Pollan, Matthias W. Beckmann, Katharina Heusinger, Sebastian M. Jud, Gretchen L. Gierach, Fabrice Odefrey, Carmel Apicella, Jennifer Stone, Jingmei Li, Rulla M. Tamimi, Per Hall, Peter A. Fasching, Christopher G. Scott, and Celine M. Vachon
Abstract: Background: Mammographic density adjusted for age and body mass index (BMI) is a heritable marker of breast cancer susceptibility. Little is known about the biologic mechanisms underlying the association between mammographic density and breast cancer risk. We examined whether common low-penetrance breast cancer susceptibility variants contribute to interindividual differences in mammographic density measures.Methods: We established an international consortium (DENSNP) of 19 studies from 10 countries, comprising 16,895 Caucasian women, to conduct a pooled cross-sectional analysis of common breast cancer susceptibility variants in 14 independent loci and mammographic density measures. Dense and nondense areas, and percent density, were measured using interactive-thresholding techniques. Mixed linear models were used to assess the association between genetic variants and the square roots of mammographic density measures adjusted for study, age, case status, BMI, and menopausal status.Results: Consistent with their breast cancer associations, the C-allele of rs3817198 in LSP1 was positively associated with both adjusted dense area (P = 0.00005) and adjusted percent density (P = 0.001), whereas the A-allele of rs10483813 in RAD51L1 was inversely associated with adjusted percent density (P = 0.003), but not with adjusted dense area (P = 0.07).Conclusion: We identified two common breast cancer susceptibility variants associated with mammographic measures of radiodense tissue in the breast gland.Impact: We examined the association of 14 established breast cancer susceptibility loci with mammographic density phenotypes within a large genetic consortium and identified two breast cancer susceptibility variants, LSP1-rs3817198 and RAD51L1-rs10483813, associated with mammographic measures and in the same direction as the breast cancer association. Cancer Epidemiol Biomarkers Prev; 21(7); 1156–. ©2012 AACR.
Published: 2023
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17. Supplementary Table 1 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author: Douglas F. Easton, Georgia Chenevix-Trench, Qin Wang, Manjeet K. Humphreys, Xianshu Wang, Janet E. Olson, Albina Farahtdinova, Darya Prokofieva, Marina Bermisheva, Elza Khusnutdinova, Madeleine Tilanus-Linthorst, Rogier A. Oldenburg, Antoinette Hollestelle, Maartje Hooning, Mervi Grip, Arja Jukkola-Vuorinen, Katri Pylkäs, Robert Winqvist, Christina Justenhoven, Volker Harth, Ute Hamann, Jonathan Beesley, Xiaoqing Chen, Sara Lindstrom, Peter Kraft, Susan E. Hankinson, David J. Hunter, Sei-Hyun Ahn, Dong-Young Noh, Keun-Young Yoo, Daehee Kang, Katarzyna Durda, Katarzyna Jaworska, Jan Lubinski, Anna Jakubowska, Barbara Burwinkel, Christof Sohn, Andreas Schneeweiss, Frederik Marme, Karen A. Pooley, Alison M. Dunning, Paul D.P. Pharoah, Rob A.E.M. Tollenaar, Laura J. Van ‘t Veer, Annegien Broeks, Marjanka K. Schmidt, Nicola Miller, Michael Kerin, Ian Tomlinson, Elinor Sawyer, Argyrios Ziogas, Hoda Anton-Culver, Dieter Flesch-Janys, Stefan Nickels, Julian Peto, Isabel dos Santos Silva, Lorna J. Gibson, Olivia Fletcher, Robert N. Hoover, Gilles D. Thomas, Rita K. Schmutzler, Claus R. Bartram, Joerg Heil, Alfons Meindl, Jaana M. Hartikainen, Veli-Matti Kosma, Vesa Kataja, Arto Mannermaa, Anna Marie Mulligan, Gord Glendon, Julia A. Knight, Irene L. Andrulis, Christa Stegmaier, Volker Arndt, Heiko Müller, Hermann Brenner, Matthias W. Beckmann, Arif B. Ekici, Christian M. Bayer, Peter A. Fasching, Yuri I. Rogov, Iosif V. Zalutsky, Natalia N. Antonenkova, Natalia V. Bogdanova, Jonine D. Figueroa, Mark E. Sherman, Jolanta Lissowska, Stephen J. Chanock, Alexander Miron, Esther M. John, Laura Baglietto, Graham G. Giles, Monica Barile, Siranoush Manoukian, Paolo Peterlongo, Paolo Radice, Shan Wang-Gohrke, Jenny Chang-Claude, James McKay, Paul Brennan, Valerie Gaborieau, Suleeporn Sangrajrang, Karin Leunen, Giuseppe Floris, Betül T. Yesilyurt, Diether Lambrechts, Melissa C. Southey, Carmel Apicella, Gillian S. Dite, John L. Hopper, Anne-Lise Børrensen-Dale, Vessela Kristensen, Grethe Grenaker Alnæs, Charlotte Lanng, Stig E. Bojesen, Børge G. Nordestgaard, Ming-Feng Hou, Chiun-Sheng Huang, Jyh-Cherng Yu, Chen-Yang Shen, Nazneen Rahman, Anthony Renwick, Clare Turnbull, Sheila Seal, Simon S. Cross, Graeme Elliot, Ian W. Brock, Angela Cox, Peter Hillemanns, Johann H. Karstens, Peter Schürmann, Thilo Dörk, Javier Benítez, Jose Ignacio Arias Pérez, M. Pilar Zamora, Núria Malats, Zachary Fredericksen, Rebecca Hein, Gianluca Severi, Fergus J. Couch, Montserrat García-Closas, Ellen L. Goode, and Roger L. Milne
Abstract: PDF file - 137K
Published: 2023
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18. Supplementary Table 1 from 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Author: Isabel dos-Santos-Silva, Julian Peto, Qin Wang, Manjeet Humphreys, Douglas F. Easton, Minouk Schoemaker, Michael Jones, Anthony Swerdlow, Alan Ashworth, Maya Ghoussaini, Alison M. Dunning, Fiona M. Blows, Paul Pharoah, Malcolm W.R. Reed, Ian W. Brock, Simon S. Cross, Angela Cox, Jingmei Li, Jianjun Liu, Kamila Czene, Per Hall, Madeleine M.A. Tilanus-Linthorst, Agnes Jager, Antoinette Hollestelle, Maartje J. Hooning, Caroline M. Seynaeve, John W.M. Martens, Robert A.E.M. Tollenaar, Peter Devilee, Nayana Weerasooriya, Anna Marie Mulligan, Julia A. Knight, Irene L. Andrulis, Mervi Grip, Arja Jukkola-Vuorinen, Katri Pylkäs, Robert Winqvist, Alexander Miron, Esther M. John, Gianluca Severi, Cariona A. McLean, Laura Baglietto, Graham Giles, Janet Olson, Xianshu Wang, Celine Vachon, Fergus J. Couch, Paolo Radice, Siranoush Manoukian, Loris Bernard, Paolo Peterlongo, Sabine Behrens, Katharina Buck, Dieter Flesch-Janys, Caroline Weltens, Robert Paridaens, Ann Smeets, Diether Lambrechts, Xiaoqing Chen, Jonathan Beesley, Georgia Chenevix-Trench, Vesa Kataja, Jaana M. Hartikainen, Veli-Matti Kosma, Arto Mannermaa, Sara Margolin, Annika Lindblom, Elza Khusnutdinova, Guzel Zinnatullina, Darya Prokofyeva, Marina Bermisheva, Yuriy Rogov, Natalia Antonenkova, Natalia Bogdanova, Carl Blomqvist, Kristiina Aittomäki, Taru A. Muranen, Heli Nevanlinna, Peter Hillemanns, Michael Bremer, Peter Schürmann, Thilo Dörk, Ursula Eilber, Shan Wang-Gohrke, Jenny Chang-Claude, Thomas Brüning, Christina Justenhoven, Hiltrud Brauch, Rita K. Schmutzler, Claus R. Bartram, Michael Golatta, Alfons Meindl, Anne Langheinz, Volker Arndt, Heiko Müller, Hermann Brenner, Christina Clarke Dur, Leslie Bernstein, Argyrios Ziogas, Hoda Anton-Culver, M. Pilar Zamora, José-Ignacio Arias-Pérez, Javier Benítez, Roger L. Milne, Børge G Nordestgaard, Henrik Flyger, Sune F. Nielsen, Stig E Bojesen, Claire Mulot, Pierre Laurent-Puig, Thérèse Truong, Pascal Guénel, Christof Sohn, Andreas Schneeweiss, Frederik Marme, Barbara Burwinkel, Michael Kerin, Ian Tomlinson, Elinor J. Sawyer, Ruediger Schulz-Wendtland, Arif B. Ekici, Matthias W. Beckmann, Peter A. Fasching, Surapon Wiangnon, Arkom Chaiwerawattana, Artitaya Lophatananon, Kenneth R. Muir, Linda M. Braaf, Sten Cornelissen, Annegien Broeks, Marjanka K. Schmidt, Maryam Mahmoodi, Melissa C. Southey, Carmel Apicella, John L. Hopper, Nichola Johnson, Nick Orr, Olivia Fletcher, Frank Dudbridge, and Helen Warren
Abstract: PDF file, 107K, Summary characteristics of the participating BCAC case-control studies.
Published: 2023
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19. Supplementary Methods, Tables 1 - 6 from A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age

Author: Alice S. Whittemore, Nancy J. Cox, Douglas F. Easton, Dan Nicolae, Fernando Rivadeneira, Andre G. Uitterlinden, Hanne Meijers-Heijboer, Quinten Waisfisz, Paul Pharoah, Alison M. Dunning, Clare Turnbull, Nazneen Rahman, Jianjun Liu, Astrid Irwanto, Kamila Czene, Per Hall, Carl Blomqvist, Kristiina Aittomäki, Heli Nevanlinna, Norbert Dahmen, Dieter Flesch-Janys, Jennifer Stone, Quang Minh Bui, Daniel F. Schmidt, Enes Makalic, Rebecca Hein, Lars Beckmann, Magdalena Lochmann, Bertram Müller-Myhsok, Rita K. Schmutzler, Alfons Meindl, Stephen J. Chanock, David J. Hunter, Mark Lathrop, Isabel dos Santos Silva, Olivia Fletcher, Julian Peto, Daniel J. Park, Carmel Apicella, Kyriaki Michailidou, Polly Newcomb, Noralane M. Lindor, Mark Jenkins, Robert Haile, Steve Gallinger, David Duggan, David Conti, Eunjung Lee, Regina M. Santella, Graham G. Giles, Melissa C. Southey, Julia A. Knight, Graham Casey, Daniela Seminara, Duncan C. Thomas, Marilie D. Gammon, Giske Ursin, Kathi Malone, Esther M. John, John L. Hopper, Irene Andrulis, Jenny Chang-Claude, Stephanie Melkonian, Maria Argos, Rachelle Brutus, Shantanu Roy, Farzana Jasmine, Jianxin Shi, Anna Felberg, Valerie McGuire, Eric Gamazon, Lin Tong, Brandon L. Pierce, Muhammad G. Kibriya, Jerry Halpern, and Habibul Ahsan
Abstract: PDF file - 197K, Table S1. Discovery set study populations. Table S2. Distribution of discovery set subjects by site, case-control status and chip. Table S3. Discovery set quality control summary. Table S4. SNPs with score-based P-values < 4 X 10-8 among 58016 SNPs for which Plink aborted the logistic regressions. Table S5. Replication set study populations. Table S6. Distribution of replication set subjects by site, case-control status and
Published: 2023
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20. Supplementary Table 2 from Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures

Author: Celine M. Vachon, John L. Hopper, V. Shane Pankratz, Peter A. Fasching, Douglas F. Easton, Alison M. Dunning, Paul Pharoah, Jacques Simard, Joe Dennis, Kyriaki Michailidou, Qin Wang, Manjeet K. Bolla, Inger Torhild Gram, Anne-Lise Borresen-Dale, Vessela N. Kristensen, Grethe I. Grenaker Alnaes, Giske Ursin, Julia A. Knight, Irene L. Andrulis, Carmel Apicella, Melissa C. Southey, Kavitha Krishnan, Laura Baglietto, Graham G. Giles, Christopher Haiman, Gertraud Maskarinec, Christy Woolcott, Laurence N. Kolonel, Loic Le Marchand, Mark A. Helvie, Heang-Ping Chan, Kaanan P. Shah, Julie A. Douglas, Matthias W. Beckmann, Katharina Heusinger, Sebastian M. Jud, Nicholas J. Wareham, Paula Smith, Kay-Tee Khaw, Robert N. Luben, Ruth M.L. Warren, Jean Leyland, Judith Brown, Fergus J. Couch, Kristen Purrington, Janet E. Olson, Julie Cunningham, Matt Jensen, Per Hall, Kamila Czene, Louise Eriksson, Jingmei Li, Aditi Hazra, Peter Kraft, Sara Lindstrom, Rulla M. Tamimi, Christopher Scott, Isabel dos Santos Silva, Deborah J. Thompson, and Jennifer Stone
Abstract: Supplementary Table 2. Associations (95% Confidence Interval (CI) in brackets) between all 77 breast cancer susceptibility variants and percent dense area, dense area, and non-dense area
Published: 2023
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21. Supplementary Figure 1 from Mammographic Breast Density and Breast Cancer: Evidence of a Shared Genetic Basis

Author: Douglas F. Easton, Nazneen Rahman, Rulla M. Tamimi, John L. Hopper, Per Hall, Norman F. Boyd, Kamila Czene, Louise Eriksson, Jingmei Li, Jennifer Stone, Melissa C. Southey, Carmel Apicella, Fergus J. Couch, Elizabeth J. Atkinson, Christopher G. Scott, Celine M. Vachon, Lisa J. Martin, Andrew D. Paterson, Johanna Rommens, Nicholas J. Wareham, Ruth J. Loos, Robert N. Luben, Ruth M.L. Warren, Jean Leyland, Judith Brown, Clare Turnbull, Sara Lindström, Kyriaki Michailidou, Deborah J. Thompson, and Jajini S. Varghese
Abstract: PDF file - 275K, Significance of the mammographic breast density polygenic risk score (PRS) for the prediction of breast cancer risk, according to percent cut-off of SNPs used in the PRS: sensitivity analysis using imputed case:control genotype dosages.
Published: 2023
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22. Supplementary Tables 1-13 from 19p13.1 Is a Triple-Negative–Specific Breast Cancer Susceptibility Locus

Author: Fergus J. Couch, Douglas F. Easton, Ylermi Soini, Jaana M. Hartikainen, Veli-Matti Kosma, Arto Mannermaa, Xiaoqing Chen, Jonathan Beesley, Georgia Chenevix-Trench, Marie-Rose Christiaens, Anne-Sophie Dieudonne, Sigrid Hatse, Diether Lambrechts, Monica Barile, Siranoush Manoukian, Paolo Peterlongo, Paolo Radice, Janet E. Olson, Susan Slager, V.S. Pankratz, Matthew L. Kosel, Gianluca Severi, Catriona A. McLean, Laura Baglietto, Graham G. Giles, Anne-Lise Børresen-Dale, Vessela Kristensen, Grethe Grenaker Alnæs, Alexander Miron, Esther M. John, Mervi Grip, Arja Jukkola-Vuorinen, Katri Pylkäs, Robert Winqvist, Anna Marie Mulligan, Gord Glendon, Julia A. Knight, Irene L. Andrulis, Maartje J. Hooning, Rob A.E.M. Tollenaar, Caroline Seynaeve, Peter Devilee, Jolanta Lissowska, Mark E. Sherman, Jonine D. Figueroa, Montserrat Garcia-Closas, Diana M. Eccles, Helena Hwang, Foluso Ademuyiwa, Christine B. Ambrosone, Kamila Czene, Per Hall, Malcom W. Reed, Simon S. Cross, Angela Cox, Qin Wang, Manjeet K. Humphreys, Alison M. Dunning, Paul P. Pharoah, Hans Ulrich Ulmer, Thomas Rüdiger, Thomas Dünnebier, Ute Hamann, Chia-Ni Hsiung, Huan-Ming Hsu, Jyh-Cherng Yu, Chen-Yang Shen, Christina Clarke Dur, Leslie Bernstein, Argyrios Ziogas, Hoda Anton-Culver, Minouk J. Schoemaker, Nicholas Orr, Alan Ashworth, Anthony J. Swerdlow, Melissa C. Southey, Daniel J. Park, Carmel Apicella, John L. Hopper, Efraim H. Rosenberg, Linde M. Braaf, Annegien Broeks, Marjanka K. Schmidt, Surapon Wiangnon, Puttisak Puttawibul, Kenneth Muir, Artitaya Lophatananon, Arif B. Ekici, Arndt Hartmann, Matthias W. Beckmann, Peter A. Fasching, Isabel dos Santos Silva, Olivia Fletcher, Nichola Johnson, Julian Peto, Michael J. Kerin, Ian Tomlinson, Elinor Sawyer, Christof Sohn, Andreas Schneeweiss, Frederick Marmé, Barbara Burwinkel, Emilie Cordina-Duverger, Florence Menegaux, Thérèse Truong, Pascal Guénel, Henrik Flyger, Børge G. Nordestgaard, Sune F. Nielsen, Stig E. Bojesen, José Ignacio Arias Pérez, María Pilar Zamora, Javier Benítez, Roger L. Milne, Annie Perkins, Miriam Dwek, Ruth Swann, Helen J. Gogas, George Fountzilas, Alexandra Stavropoulou, Drakoulis Yannoukakos, Penelope Miron, Christa Stegmaier, Volker Arndt, Heiko Müller, Hermann Brenner, Priyanka Sharma, Harsh B. Pathak, JoEllen Weaver, Andrew K. Godwin, Christoph Engel, Sarah Schott, Claus R. Bartram, Alfons Meindl, Rita K. Schmutzler, Hans-Peter Fischer, Yon-Dschun Ko, Hiltrud Brauch, Stefan Nickels, Shan Wang-Gohrke, Hans-Peter Sinn, Dieter Flesch-Janys, Alina Vrieling, Jenny Chang-Claude, Carl Blomqvist, Kristiina Aittomäki, Dario Greco, Heli Nevanlinna, Annika Lindblom, Sara Margolin, Xianshu Wang, Celine M. Vachon, Zachary Fredericksen, and Kristen N. Stevens
Abstract: PDF file - 272K
Published: 2023
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23. Supplementary Table 3 from Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures

Author: Celine M. Vachon, John L. Hopper, V. Shane Pankratz, Peter A. Fasching, Douglas F. Easton, Alison M. Dunning, Paul Pharoah, Jacques Simard, Joe Dennis, Kyriaki Michailidou, Qin Wang, Manjeet K. Bolla, Inger Torhild Gram, Anne-Lise Borresen-Dale, Vessela N. Kristensen, Grethe I. Grenaker Alnaes, Giske Ursin, Julia A. Knight, Irene L. Andrulis, Carmel Apicella, Melissa C. Southey, Kavitha Krishnan, Laura Baglietto, Graham G. Giles, Christopher Haiman, Gertraud Maskarinec, Christy Woolcott, Laurence N. Kolonel, Loic Le Marchand, Mark A. Helvie, Heang-Ping Chan, Kaanan P. Shah, Julie A. Douglas, Matthias W. Beckmann, Katharina Heusinger, Sebastian M. Jud, Nicholas J. Wareham, Paula Smith, Kay-Tee Khaw, Robert N. Luben, Ruth M.L. Warren, Jean Leyland, Judith Brown, Fergus J. Couch, Kristen Purrington, Janet E. Olson, Julie Cunningham, Matt Jensen, Per Hall, Kamila Czene, Louise Eriksson, Jingmei Li, Aditi Hazra, Peter Kraft, Sara Lindstrom, Rulla M. Tamimi, Christopher Scott, Isabel dos Santos Silva, Deborah J. Thompson, and Jennifer Stone
Abstract: Supplementary Table 3. Associations (95% Confidence Interval (CI) in brackets) between breast cancer susceptibility variants and the mammographic measures with adjustment for case-control status
Published: 2023
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24. Supplementary Table 1 from Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures

Author: Celine M. Vachon, John L. Hopper, V. Shane Pankratz, Peter A. Fasching, Douglas F. Easton, Alison M. Dunning, Paul Pharoah, Jacques Simard, Joe Dennis, Kyriaki Michailidou, Qin Wang, Manjeet K. Bolla, Inger Torhild Gram, Anne-Lise Borresen-Dale, Vessela N. Kristensen, Grethe I. Grenaker Alnaes, Giske Ursin, Julia A. Knight, Irene L. Andrulis, Carmel Apicella, Melissa C. Southey, Kavitha Krishnan, Laura Baglietto, Graham G. Giles, Christopher Haiman, Gertraud Maskarinec, Christy Woolcott, Laurence N. Kolonel, Loic Le Marchand, Mark A. Helvie, Heang-Ping Chan, Kaanan P. Shah, Julie A. Douglas, Matthias W. Beckmann, Katharina Heusinger, Sebastian M. Jud, Nicholas J. Wareham, Paula Smith, Kay-Tee Khaw, Robert N. Luben, Ruth M.L. Warren, Jean Leyland, Judith Brown, Fergus J. Couch, Kristen Purrington, Janet E. Olson, Julie Cunningham, Matt Jensen, Per Hall, Kamila Czene, Louise Eriksson, Jingmei Li, Aditi Hazra, Peter Kraft, Sara Lindstrom, Rulla M. Tamimi, Christopher Scott, Isabel dos Santos Silva, Deborah J. Thompson, and Jennifer Stone
Abstract: Supplementary Table 1. Mean (95% Confidence Interval (CI)) mammographic density measurements by covariate distribution
Published: 2023
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25. Longitudinal Study of Mammographic Density Measures That Predict Breast Cancer Risk

Author: John L. Hopper, Carmel Apicella, Jennifer Stone, Kavitha Krishnan, Gianluca Severi, Laura Baglietto, Graham G. Giles, Robert J. MacInnis, Christopher F. Evans, and Julie A. Simpson
Subjects: Adult, Longitudinal study, Pathology, medicine.medical_specialty, Epidemiology, Breast Neoplasms, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Risk Factors, medicine, Humans, Mass Screening, Mammography, Breast, Longitudinal Studies, Registries, 030212 general & internal medicine, Early Detection of Cancer, Mass screening, Aged, Breast Density, Proportional Hazards Models, Aged, 80 and over, medicine.diagnostic_test, Proportional hazards model, business.industry, Australia, Reproducibility of Results, Cancer, Middle Aged, medicine.disease, Oncology, 030220 oncology & carcinogenesis, Female, business, Body mass index, Demography, Cohort study
Abstract: Background: After adjusting for age and body mass index (BMI), mammographic measures—dense area (DA), percent dense area (PDA), and nondense area (NDA)—are associated with breast cancer risk. Our aim was to use longitudinal data to estimate the extent to which these risk-predicting measures track over time. Methods: We collected 4,320 mammograms (age range, 24–83 years) from 970 women in the Melbourne Collaborative Cohort Study and the Australian Breast Cancer Family Registry. Women had on average 4.5 mammograms (range, 1–14). DA, PDA, and NDA were measured using the Cumulus software and normalized using the Box–Cox method. Correlations in the normalized risk-predicting measures over time intervals of different lengths were estimated using nonlinear mixed-effects modeling of Gompertz curves. Results: Mean normalized DA and PDA were constant with age to the early 40s, decreased over the next two decades, and were almost constant from the mid-60s onward. Mean normalized NDA increased nonlinearly with age. After adjusting for age and BMI, the within-woman correlation estimates for normalized DA were 0.94, 0.93, 0.91, 0.91, and 0.91 for mammograms taken 2, 4, 6, 8, and 10 years apart, respectively. Similar correlations were estimated for the age- and BMI-adjusted normalized PDA and NDA. Conclusions: The mammographic measures that predict breast cancer risk are highly correlated over time. Impact: This has implications for etiologic research and clinical management whereby women at increased risk could be identified at a young age (e.g., early 40s or even younger) and recommended appropriate screening and prevention strategies. Cancer Epidemiol Biomarkers Prev; 26(4); 651–60. ©2017 AACR.
Published: 2017
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26. Meanings of abortion in context: accounts of abortion in the lives of women diagnosed with breast cancer

Author: Louise Keogh, Ingrid Winship, Martha Hickey, Jane Fisher, Jillian Graham, John L. Hopper, Carmel Apicella, and Maggie Kirkman
Subjects: Adult, medicine.medical_specialty, Reproductive medicine, Context (language use), Breast Neoplasms, Abortion, lcsh:Gynecology and obstetrics, Cohort Studies, Interviews as Topic, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Quality of life (healthcare), 5. Gender equality, Pregnancy, Surveys and Questionnaires, Obstetrics and Gynaecology, medicine, Humans, 030212 general & internal medicine, Survivors, reproductive and urinary physiology, lcsh:RG1-991, Medicine(all), business.industry, Obstetrics, lcsh:Public aspects of medicine, Australia, Obstetrics and Gynecology, Cancer, Abortion, Induced, lcsh:RA1-1270, General Medicine, Middle Aged, Qualitative methods, 16. Peace & justice, medicine.disease, Reproductive Medicine, 030220 oncology & carcinogenesis, embryonic structures, Female, business, In-depth interviews, Cohort study, Research Article
Abstract: Background A breast cancer diagnosis and an abortion can each be pivotal moments in a woman’s life. Research on abortion and breast cancer deals predominantly with women diagnosed during pregnancy who might be advised to have an abortion. The other—discredited but persistent—association is that abortions cause breast cancer. The aim here was to understand some of the ways in which women themselves might experience the convergence of abortion and breast cancer. Methods Among 50 women recruited from the Australian Breast Cancer Family Study and interviewed in depth about what it meant to have a breast cancer diagnosis before the age of 41, five spontaneously told of having or contemplating an abortion. The transcripts of these five women were analysed to identify what abortion meant in the context of breast cancer, studying each woman’s account as an individual “case” and interpreting it within narrative theory. Results It was evident that each woman understood abortion as playing a different role in her life. One reported an abortion that she did not link to her cancer, the second was relieved not to have to abort a mid-treatment pregnancy, the third represented abortion as saving her life by making her cancer identifiable, the fourth grieved an abortion that had enabled her to begin chemotherapy, and the fifth believed that her cancer was caused by an earlier abortion. Conclusions The women’s accounts illustrate the different meanings of abortion in women’s lives, with concomitant need for diverse support, advice, and information.
Published: 2017
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27. Cohort Profile: The Breast Cancer Prospective Family Study Cohort (ProF-SC)

Author: Irene L. Andrulis, Julia A. Knight, David E. Goldgar, Kelly-Anne Phillips, Mary B. Daly, John L. Hopper, Alice S. Whittemore, Mary Beth Terry, Wendy K. Chung, Saundra S. Buys, Carmel Apicella, and Esther M. John
Subjects: 0301 basic medicine, Oncology, medicine.medical_specialty, Epidemiology, Breast Neoplasms, Cohort Studies, 03 medical and health sciences, Family studies, 0302 clinical medicine, Breast cancer, Risk Factors, Internal medicine, medicine, Humans, Prospective Studies, Prospective cohort study, Cohort Profiles, Family Health, business.industry, Cancer, Retrospective cohort study, General Medicine, medicine.disease, 030104 developmental biology, 030220 oncology & carcinogenesis, Cohort, Female, business, Historical Cohort, Cohort study
Published: 2015
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28. Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

Author: Christopher A. Haiman, Pascal Guénel, Hidemi Ito, Susan L. Neuhausen, Christy G. Woolcott, Graham G. Giles, Anthony J. Swerdlow, Per Hall, Kamila Czene, Artitaya Lophatananon, Åslaug Helland, Yu-Tang Gao, Vessela N. Kristensen, Manjeet K. Bolla, Anna H. Wu, Jacques Simard, John L. Hopper, Robert Luben, Julia A. Knight, Mark S. Goldberg, Thilo Dörk, Kay-Tee Khaw, Christopher G. Scott, Giuseppe Floris, Jennifer Stone, Madeleine M.A. Tilanus-Linthorst, Stig E. Bojesen, Daehee Kang, Qin Wang, Angela Cox, Fergus J. Couch, Jonathan Beesley, Maartje J. Hooning, Natalia Bogdanova, Brian E. Henderson, Paolo Peterlongo, Rulla M. Tamimi, Soo Hwang Teo, Diether Lambrechts, Ute Hamann, Wei Zheng, Volker Arndt, Juliet D. French, Stacey L. Edwards, Julian Peto, Ian Tomlinson, Ji Yeob Choi, Elinor J. Sawyer, Melissa C. Southey, Annegien Broeks, Arif B. Ekici, Heli Nevanlinna, Celine M. Vachon, Thérèse Truong, Amanda E. Toland, Javier Benitez, Barbara Burwinkel, Xiao-Ou Shu, Robert Winqvist, Pierre Antoine Dugué, Karen McCue, Mikael Hartman, Minouk J. Schoemaker, Keitaro Matsuo, Norbert Arnold, Deborah J. Thompson, Paolo Radice, Anna Jakubowska, Marjanka K. Schmidt, Hermann Brenner, Hoda Anton-Culver, Argyrios Ziogas, Jenny Chang-Claude, Alicia Beeghly-Fadiel, Veli-Matti Kosma, Hatef Darabi, Drakoulis Yannoukakos, Maya Ghoussaini, Rodney J. Scott, Maria Kabisch, Chen-Yang Shen, Suleeporn Sangrajrang, Montserrat Garcia-Closas, James McKay, Alfons Meindl, Christoph Engel, Joe Dennis, Chiu-Chen Tseng, Catriona McLean, Arja Jukkola-Vuorinen, Peter A. Fasching, Katharina Heusinger, Georgia Chenevix-Trench, Robert A.E.M. Tollenaar, Kyriaki Michailidou, Rita K. Schmutzler, Shivaani Mariapun, Silje Nord, Hiltrud Brauch, Peter Devilee, Isabel dos-Santos-Silva, Douglas F. Easton, Frederik Marmé, Vilde D. Haakensen, Wei-Yen Lim, Keith Humphreys, Siddhartha Kar, Anja Rudolph, Arto Mannermaa, Jan Lubinski, Anna González-Neira, Sara Margolin, Matthias W. Beckmann, Simon S. Cross, Anne Lise Børresen-Dale, Jonine D. Figueroa, Alison M. Dunning, Kenneth Muir, Sander Canisius, Jingmei Li, Carmel Apicella, Jyh-Cherng Yu, Gertraud Maskarinec, Roger L. Milne, Henrik Flyger, Irene L. Andrulis, Annika Lindblom, Sofia Khan, Diana Torres, Clinical Genetics, Obstetrics & Gynecology, Medical Oncology, Surgery, Cardiothoracic Surgery, Pulmonary Medicine, Thompson, Deborah [0000-0003-1465-5799], Ghoussaini, Maya [0000-0002-2415-2143], Dennis, Joe [0000-0003-4591-1214], Wang, Jean [0000-0002-9139-0627], Luben, Robert [0000-0002-5088-6343], Khaw, Kay-Tee [0000-0002-8802-2903], Dunning, Alison [0000-0001-6651-7166], Easton, Douglas [0000-0003-2444-3247], and Apollo - University of Cambridge Repository
Subjects: Genotype, Quantitative Trait Loci, Autophagy-Related Proteins, Estrogen receptor, Breast Neoplasms, Genome-wide association study, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, White People, Article, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Asian People, SDG 3 - Good Health and Well-being, Odds Ratio, medicine, Genetics, Humans, SNP, Genetics(clinical), Luciferases, Genetics (clinical), 030304 developmental biology, Genetic association, 0303 health sciences, Chromosomes, Human, Pair 10, Haplotype, Age Factors, Chromosome Mapping, medicine.disease, 3. Good health, DNA-Binding Proteins, Enhancer Elements, Genetic, Gene Expression Regulation, 030220 oncology & carcinogenesis, Trans-Activators, Regression Analysis, Female, Genome-Wide Association Study, Transcription Factors
Abstract: Genome-wide association studies have identified SNPs near ZNF365 at 10q21.2 that are associated with both breast cancer risk and mammographic density. To identify the most likely causal SNPs, we fine mapped the association signal by genotyping 428 SNPs across the region in 89,050 European and 12,893 Asian case and control subjects from the Breast Cancer Association Consortium. We identified four independent sets of correlated, highly trait-associated variants (iCHAVs), three of which were located within ZNF365. The most strongly risk-associated SNP, rs10995201 in iCHAV1, showed clear evidence of association with both estrogen receptor (ER)-positive (OR = 0.85 [0.82-0.88]) and ER-negative (OR = 0.87 [0.82-0.91]) disease, and was also the SNP most strongly associated with percent mammographic density. iCHAV2 (lead SNP, chr10: 64,258,684:D) and iCHAV3 (lead SNP, rs7922449) were also associated with ER-positive (OR = 0.93 [0.91-0.95] and OR = 1.06 [1.03-1.09]) and ER-negative (OR = 0.95 [0.91-0.98] and OR = 1.08 [1.04-1.13]) disease. There was weaker evidence for iCHAV4, located 5' of ADO, associated only with ER-positive breast cancer (OR = 0.93 [0.90-0.96]). We found 12, 17, 18, and 2 candidate causal SNPs for breast cancer in iCHAVs 1-4, respectively. Chromosome conformation capture analysis showed that iCHAV2 interacts with the ZNF365 and NRBF2 (more than 600 kb away) promoters in normal and cancerous breast epithelial cells. Luciferase assays did not identify SNPs that affect transactivation of ZNF365, but identified a protective haplotype in iCHAV2, associated with silencing of the NRBF2 promoter, implicating this gene in the etiology of breast cancer.
Published: 2015
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29. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author: Vesa Kataja, Aida Karina Dieffenbach, Chia-Ni Hsiung, Catherine S. Healey, Gie Hooi Tan, Soo Hwang Teo, Domenico Palli, Frederik Marme, Katri Pylkäs, Roger L. Milne, Jaana M. Hartikainen, Gord Glendon, Susan L. Slager, Chen-Yang Shen, Fredrick R. Schumacher, Daniel F. Schmidt, Suleeporn Sangrajrang, Kee Seng Chia, Lorna Gibson, Pascal Guénel, Alice S. Whittemore, Jenny Chang-Claude, Yu Tang Gao, Hidemi Ito, Simon S. Cross, Sofia Khan, Marie Sanchez, Daniel Vincent, Daniel Herrero, Nicola Miller, Antoinette Hollestelle, Caroline M. Seynaeve, Christopher A. Haiman, Hermann Brenner, Kay-Tee Khaw, Loris Bernard, Habibul Ahsan, Melissa C. Southey, David Van Den Berg, Martha J. Shrubsole, Daniel O. Stram, William Blot, Mel Maranian, Robert Winqvist, Keitaro Matsuo, John W. M. Martens, Heli Nevanlinna, Mia M. Gaudet, Anna Jakubowska, Christine D. Berg, Paul D.P. Pharoah, Jacques Simard, Manjeet K. Bolla, Dieter Flesch-Janys, Mark S. Goldberg, Paul Brennan, Ching Wan Chan, Sune F. Nielsen, Sara Lindström, Mitul Shah, Matthias W. Beckmann, Craig Luccarini, Jonathan Beesley, Kyriaki Michailidou, Paolo Peterlongo, Marc J. Gunter, Anna González-Neira, Ji Yeob Choi, Per Hall, Sarah Stewart-Brown, Keith Humphreys, Hui Cai, Kathleen E. Malone, Elinor J. Sawyer, Louise A. Brinton, Marjanka K. Schmidt, Xiao-Ou Shu, Barbara Perkins, Lotte Maxild Mortensen, Chiu-Chen Tseng, Hanne Meijers-Heijboer, Minouk J. Schoemaker, Keun-Young Yoo, Julia A. Knight, Alan Ashworth, Stig E. Bojesen, Kamila Czene, Artitaya Lophatananon, Graham G. Giles, S. Ahmed, Kazuo Tajima, Douglas F. Easton, Maria Kabisch, Arja Jukkola-Vuorinen, Wei Lu, Peter A. Fasching, Irene L. Andrulis, Clare Turnbull, Caroline Baynes, Christine B. Ambrosone, Jan Lubinski, Muriel A. Adank, A. Meindl, Taru A. Muranen, Siranoush Manoukian, Susan M. Gapstur, Natalia Bogdanova, Alexander Hein, Annika Lindblom, Nazneen Rahman, Annegien Broeks, Lothar Haeberle, Federico Canzian, G Pita, Ming-Feng Hou, Hiroji Iwata, Drakoulis Yannoukakos, Diana Torres, Vessela N. Kristensen, Peter Devilee, Qiuyin Cai, Christi J Asperen, John L. Hopper, Diether Lambrechts, Michael Lush, Hans Wildiers, Joe Dennis, Sandra L. Halverson, Carl Blomqvist, Erik Van Limbergen, Malin Sund, Daehee Kang, Grethe I. Grenaker Alnæs, Marilie D. Gammon, Ursula Eilber, Ian Tomlinson, Thérèse Truong, Amanda E. Toland, Anna Marie Mulligan, Kirsimari Aaltonen, Olivia Fletcher, Jonine D. Figueroa, Angela Cox, Pei Ei Wu, Maartje J. Hooning, Catriona McLean, Georgia Chenevix-Trench, Pornthep Siriwanarangsan, Malcolm W.R. Reed, Emily Hallberg, Sara Margolin, Volker Arndt, Montserrat Garcia-Closas, Francois Bacot, Rita K. Schmutzler, Julian Peto, David J. Hunter, Thomas Brüning, Katarzyna Jaworska, Christof Sohn, Børge G. Nordestgaard, Enes Makalic, Hatef Darabi, Barbara Burwinkel, Petra P.H. Peeters, J. Margriet Collée, Rongxi Yang, Robert N. Hoover, Eiliv Lund, Fergus J. Couch, Ute Hamann, Jirong Long, Wei Zheng, Sabine Behrens, Giske Ursin, Muhammad G. Kibriya, Claire Mulot, Laure Dossus, Helen Tsimiklis, Tomasz Huzarski, Peter Kraft, Anja Rudolph, Arto Mannermaa, Alison M. Dunning, Lisa B. Signorello, Valerie Gaborieau, Kenneth Muir, Anthony J. Swerdlow, Javier Benitez, Judith S. Brand, Sander Canisius, Hoda Anton-Culver, Veli-Matti Kosma, Thilo Dörk, Sten Cornelissen, Christa Stegmaier, Cheng Har Yip, Brian E. Henderson, Harald Surowy, Jingmei Li, Nur Aishah Taib, W. Ryan Diver, Carmel Apicella, Janet E. Olson, Kristiina Aittomäki, Celine M. Vachon, Regina M. Santella, Dimitrios Trichopoulos, Jianjun Liu, Nick Orr, Martine Dumont, Christian Sutter, Sue K. Park, Mikael Hartman, Susan L. Neuhausen, Hui Miao, M. Pilar Zamora, Anna H. Wu, Rob B. van der Luijt, Isabel dos-Santos-Silva, Graham Casey, Henrik Flyger, M. Rosario Alonso, Nuria Álvarez, Michael J. Kerin, Loic Le Marchand, Jose Ignacio Arias Perez, Mikael Eriksson, Esther M. John, Quinten Waisfisz, Qin Wang, Daniel C. Tessier, Paolo Radice, Robert A.E.M. Tollenaar, James McKay, Silje Nord, Hiltrud Brauch, José María Huerta, Stephen J. Chanock, Mervi Grip, Patrick Neven, Senno Verhoef, Clinical Genetics, Obstetrics & Gynecology, Medical Oncology, Cardiothoracic Surgery, Dennis, Joe [0000-0003-4591-1214], Wang, Jean [0000-0002-9139-0627], Khaw, Kay-Tee [0000-0002-8802-2903], Pharoah, Paul [0000-0001-8494-732X], Dunning, Alison [0000-0001-6651-7166], Easton, Douglas [0000-0003-2444-3247], Apollo - University of Cambridge Repository, Human genetics, and CCA - Oncogenesis
Subjects: Breast Neoplasms, Single-nucleotide polymorphism, Genome-wide association study, Biology, Research Support, Polymorphism, Single Nucleotide, N.I.H, Cohort Studies, brca1, Breast cancer, Research Support, N.I.H., Extramural, Meta-Analysis as Topic, SDG 3 - Good Health and Well-being, common variants, Journal Article, estrogen, chek2-asterisk-1100delc, Genetics, medicine, Humans, Genetic Predisposition to Disease, 1000 Genomes Project, Non-U.S. Gov't, genotype imputation, risk, Genetic association, Research Support, Non-U.S. Gov't, Chromatin binding, Extramural, Cancer, Microarray Analysis, confer susceptibility, medicine.disease, 3. Good health, ovarian-cancer, Genetic Loci, Case-Control Studies, alleles, Female, Imputation (genetics), Genome-Wide Association Study, metaanalysis
Abstract: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1. ispartof: Nature Genetics vol:47 issue:4 pages:373-80 ispartof: location:United States status: published
Published: 2015
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30. Testing for Gene-Environment Interactions Using a Prospective Family Cohort Design: Body Mass Index in Early and Later Adulthood and Risk of Breast Cancer

Author: Aung Ko Win, Robert J. MacInnis, Graham G. Giles, James G. Dowty, Gillian S. Dite, Antonis C. Antoniou, Mark A. Jenkins, Carmel Apicella, Melissa C. Southey, Mary Beth Terry, P. Weideman, Roger L. Milne, Kelly-Anne Phillips, Adrian Bickerstaffe, John L. Hopper, Antoniou, Antonis [0000-0001-9223-3116], and Apollo - University of Cambridge Repository
Subjects: Adult, Gerontology, Adolescent, Practice of Epidemiology, Epidemiology, Breast Neoplasms, body mass index, family studies, Risk Assessment, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, breast cancer, cohort studies, Humans, Medicine, Genetic Predisposition to Disease, Prospective Studies, 030212 general & internal medicine, Family history, familial risk, Prospective cohort study, Reproductive History, Proportional Hazards Models, Family Health, business.industry, Proportional hazards model, Australia, Middle Aged, medicine.disease, gene-environment interaction, 030220 oncology & carcinogenesis, Cohort, Female, BOADICEA, business, Risk assessment, Body mass index, Follow-Up Studies, New Zealand, Cohort study, Demography
Abstract: The ability to classify people according to their underlying genetic susceptibility to a disease is increasing with new knowledge, better family data, and more sophisticated risk prediction models, allowing for more effective prevention and screening. To do so, however, we need to know whether risk associations are the same for people with different genetic susceptibilities. To illustrate one way to estimate such gene-environment interactions, we used prospective data from 3 Australian family cancer cohort studies, 2 enriched for familial risk of breast cancer. There were 288 incident breast cancers in 9,126 participants from 3,222 families. We used Cox proportional hazards models to investigate whether associations of breast cancer with body mass index (BMI; weight (kg)/height (m)$^2$ ) at age 18–21 years, BMI at baseline, and change in BMI differed according to genetic risk based on lifetime breast cancer risk from birth, as estimated by BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) software, adjusted for age at baseline data collection. Although no interactions were statistically signifi- cant, we have demonstrated the power with which gene-environment interactions can be investigated using a cohort enriched for persons with increased genetic risk and a continuous measure of genetic risk based on family history.
Published: 2017
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31. Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors

Author: Manuela Gago-Dominguez, Catriona McLean, Georgia Chenevix-Trench, Malcolm W.R. Reed, Doug Easton, Ellen G. Engelhardt, Keith Humphreys, Judith S. Brand, Laura Baglietto, Sune F. Nielsen, Stephen J. Chanock, Børge G. Nordestgaard, Qin Wang, Simon S. Cross, Arif B. Ekici, Yon-Dschun Ko, Jolanta Lissowska, A.K. Dieffenbach, Javier Benitez, Montserrat Garcia-Closas, Thomas Brüning, Henrik Flyger, Betül T. Yesilyurt, Vesa Kataja, Lothar Häberle, Fergus J. Couch, Jenny Chang-Claude, Dieter Flesch-Janys, Veli-Matti Kosma, Manjeet K. Bolla, Celine M. Vachon, Florence Menegaux, Giuseppe Floris, John L. Hopper, Christa Stegmaier, J. Esteban Castelao, Stig E. Bojesen, Peter A. Fasching, Hannah Munday, Mitul Shah, Matthias W. Beckmann, Jose Ignacio Arias Perez, Elena Provenzano, Mikael Eriksson, Diether Lambrechts, Alison M. Dunning, Marjanka K. Schmidt, Sabine Behrens, Jaana M. Hartikainen, Melissa C. Southey, Gord Glendon, Anthony J. Swerdlow, Emilie Cordina-Duverger, Ursula Eilber, Emiel J. Th. Rutgers, Paul D.P. Pharoah, Angela Cox, Volker Arndt, Karin Leunen, Pascal Guénel, Minouk J. Schoemaker, Jingmei Li, Carmel Apicella, Annegien Broeks, María Dolores Torres, Mark E. Sherman, Irene L. Andrulis, Emily Hallberg, Janet E. Olson, Roger L. Milne, Joe Dennis, Nick Orr, Ute Hamann, Hatef Darabi, Amanda B. Spurdle, Kamila Czene, Anja Rudolph, Arto Mannermaa, Anna González-Neira, Thérèse Truong, Anna Marie Mulligan, Per Hall, Hermann Brenner, Julia A. Knight, Petra Seibold, Alan Ashworth, Graham G. Giles, and Angel Carracedo
Subjects: Oncology, Genetics, Cancer Research, medicine.medical_specialty, Single-nucleotide polymorphism, Genome-wide association study, Biology, medicine.disease, Breast cancer, Polymorphism (computer science), Internal medicine, medicine, Genetic predisposition, SNP, Risk factor, Gene–environment interaction
Abstract: A large genotyping project within the Breast Cancer Association Consortium (BCAC) recently identified 41 associations between single nucleotide polymorphisms (SNPs) and overall breast cancer (BC) risk. We investigated whether the effects of these 41 SNPs, as well as six SNPs associated with estrogen receptor (ER) negative BC risk are modified by 13 environmental risk factors for BC. Data from 22 studies participating in BCAC were pooled, comprising up to 26,633 cases and 30,119 controls. Interactions between SNPs and environmental factors were evaluated using an empirical Bayes-type shrinkage estimator. Six SNPs showed interactions with associated p-values (pint )
Published: 2014
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32. Reproductive risk factors and oestrogen/progesterone receptor-negative breast cancer in the Breast Cancer Family Registry

Author: Meghan E. Work, Jo Knight, H Hibshoosh, Melissa C. Southey, Carmel Apicella, Mary Beth Terry, Graham G. Giles, Gillian S. Dite, Anna Marie Mulligan, Irene L. Andrulis, Yuyan Liao, Esther M. John, and John L. Hopper
Subjects: Oncology, Adult, Cancer Research, medicine.medical_specialty, Epidemiology, breastfeeding, Breastfeeding, Breast Neoplasms, Reproductive risk, California, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, breast cancer, Risk Factors, Internal medicine, medicine, Humans, Progesterone Receptor Negative, Registries, skin and connective tissue diseases, 030304 developmental biology, oral contraceptives, Gynecology, Ontario, 0303 health sciences, business.industry, Reproduction, Case-control study, Australia, Middle Aged, medicine.disease, 3. Good health, Breast Feeding, Receptors, Estrogen, 030220 oncology & carcinogenesis, Case-Control Studies, Female, business, Receptors, Progesterone, Breast feeding, Contraceptives, Oral
Abstract: Background: Oestrogen receptor (ER)- and progesterone receptor (PR)-negative (ER−PR−) breast cancer is associated with poorer prognosis compared with other breast cancer subtypes. High parity has been associated with an increased risk of ER−PR− cancer, but emerging evidence suggests that breastfeeding may reduce this risk. Whether this potential breastfeeding benefit extends to women at high risk of breast cancer remains critical to understand for prevention. Methods: Using population-based ascertained cases (n=4011) and controls (2997) from the Breast Cancer Family Registry, we examined reproductive risk factors in relation to ER and PR status. Results: High parity (⩾3 live births) without breastfeeding was positively associated only with ER−PR− tumours (odds ratio (OR)=1.57, 95% confidence interval (CI), 1.10–2.24); there was no association with parity in women who breastfed (OR=0.93, 95% CI 0.71–1.22). Across all race/ethnicities, associations for ER−PR− cancer were higher among women who did not breastfeed than among women who did. Oral contraceptive (OC) use before 1975 was associated with an increased risk of ER−PR− cancer only (OR=1.32, 95% CI 1.04–1.67). For women who began OC use in 1975 or later there was no increased risk. Conclusions: Our findings support that there are modifiable factors for ER−PR− breast cancer and that breastfeeding in particular may mitigate the increased risk of ER−PR− cancers seen from multiparity.
Published: 2014

33. Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1

Author: Per Hall, Hui Cai, Roger L. Milne, Douglas F. Easton, Anja Rudolph, José Ignacio Arias, Vessela N. Kristensen, Julia A. Knight, Lisa B. Signorello, Petra Seibold, Jonathan Tyrer, Arto Mannermaa, Alan Ashworth, Andreas Schneeweiss, Sandra Deming-Halverson, Katarzyna Durda, Kimael Eriksson, Thilo Dörk, Isabel dos Santos Silva, Alfons Meindl, Laura Baglietto, Fredrick R. Schumacher, Peter Devilee, Qiuyin Cai, Janet E. Olson, Keith Humphreys, Annegien Broeks, Soo Hwang Teo, Michael P. Lux, Sze Yee Phuah, Federick Marme, Pascal Guénel, Hidemi Ito, Irene L. Andrulis, Natalia Bogdanova, Christoph Engel, Juliet D. French, Nina Ditsch, Xianshu Wang, Susan L. Slager, Bernardo Bonanni, Hermann Brenner, Nick Orr, Marie Rose Christiaens, Martine Dumont, Martin O'Reilly, Annika Lindblom, Catriona McLean, Ans M.W. van den Ouweland, Marjanka K. Schmidt, Sara Margolin, Kerstin B. Meyer, Martha J. Shrubsole, Malcolm W.R. Reed, Hans Ulrich Ulmer, Georgia Chenevix-Trench, Kyriaki Michailidou, Brian E. Henderson, Nicola Miller, Sandrine Tchatchou, Stig E. Bojesen, Pornthep Siriwanarangsan, Joe Dennis, Jaana M. Hartikainen, Matthias W. Beckmann, Fergus J. Couch, David Van Den Berg, Celine M. Vachon, Pierre Laurent-Puig, Montserrat Garcia-Closas, Ian Tomlinson, Thomas Brüning, Maya Ghoussaini, Mikael Hartman, Kristiina Aittomäki, Thérèse Truong, Katarzyna Jaworska, Yon Ko, Yu Tang Gao, Paolo Peterlongo, Stacey L. Edwards, Saskia Carlebur, Hartef Darabi, Pei Ei Wu, Ute Hamann, M. Pilar Zamora, Taru A. Muranen, Jirong Long, Stephen J. Chanock, William Blot, Sonja Helbig, Heiko Müller, Christina Clarke Dur, Ji Yeob Choi, Melissa C. Southey, Olivia Fletcher, Ming-Feng Hou, Hiroji Iwata, Nichola Johnson, Wei Zheng, Robert Winqvist, Diether Lambrechts, Javier Benitez, Chen-Yang Shen, Suleeporn Sangrajrang, Chia-Ni Hsiung, James McKay, Kristen S. Purrington, Cheng Har Yip, Ann Smeets, Valerie Gaborieau, Keitaro Matsuo, Anthony J. Swerdlow, Anne Lise Børresen-Dale, Anna Jakubowska, Dong Young Noh, Paul D.P. Pharoah, Ines de Santiago, Hiltrud Brauch, Vesa Kataja, Yasushi Yatabe, Anna H. Wu, Grethe I. Grenaker Alnæs, Jonine D. Figueroa, Christopher A. Haiman, Florence Menegaux, Hoda Anton-Culver, Paul Brennan, Veli-Matti Kosma, Bruce A.J. Ponder, Dieter Flesch-Janys, Thomas Rüdiger, Shaik Ahmad Buhari, Katri Pylkäs, Gord Glendon, Rita K. Schmutzler, Julian Peto, Chiu-Chen Tseng, Sune F. Nielsen, Mark S. Goldberg, Angela Cox, Carolien H.M. van Deurzen, Artitaya Lophatananon, Radhika Prathalingham, Børge G. Nordestgaard, Arja Jukkola-Vuorinen, Wei Lu, Peter A. Fasching, Florentia Fostira, Wei-Yen Lim, Barbara Burwinkel, Jenny Chang-Claude, Michael J. Kerin, Maartje J. Hooning, Kamila Czene, Asta Försti, Loic Le Marchand, Gianluca Severi, Volker Arndt, John L. Hopper, Jan Lubinski, Jacques Simard, Frans B. L. Hogervorst, Alison M. Dunning, Kenneth Muir, Saila Kauppila, Laura J. van't Veer, John W.M. Martens, Helen Tsimiklis, Loris Bernard, Heli Nevanlinna, Jolanta Lissowska, Robert Pilarski, Qin Wang, Paolo Radice, Robert A.E.M. Tollenaar, Jianjun Liu, Graham G. Giles, Henrik Flyger, Arif B. Ekici, Xiao-Ou Shu, Manjeet K. Bolla, Carl Blomqvist, Daehee Kang, Argyrios Ziogas, Bernard Thienpont, Patricia Harrington, Sue K. Park, Christa Stegmaier, Sarah Stewart-Brown, Elinor J. Sawyer, Miao Hui, Susan L. Neuhausen, Daniel O. Stram, Christof Sohn, Minouk J. Schoemaker, Jingmei Li, Carmel Apicella, Caroline M. Seynaeve, Clinical Genetics, Medical Oncology, Pathology, and Cardiothoracic Surgery
Subjects: Fibroblast Growth Factor, african-american, Genome-wide association study, Medical and Health Sciences, Chromosome conformation capture, 0302 clinical medicine, 2.1 Biological and endogenous factors, Genetics(clinical), Aetiology, Promoter Regions, Genetic, Genetics (clinical), Cancer, African Continental Ancestry Group, Genetics & Heredity, Genetics, 0303 health sciences, Tumor, Chromosome Mapping, Biological Sciences, 3. Good health, Chromatin, Gene Expression Regulation, Neoplastic, 030220 oncology & carcinogenesis, kConFab Investigators, Female, RNA Interference, women, GENICA Network, transcription, reveals, Type 2, Alleles, Asian Continental Ancestry Group, Binding Sites, Breast Neoplasms, Case-Control Studies, Cell Line, Tumor, Chromatin Immunoprecipitation, E2F1 Transcription Factor, European Continental Ancestry Group, Genetic Association Studies, Haplotypes, Hepatocyte Nuclear Factor 3-alpha, Humans, Position-Specific Scoring Matrices, Protein Binding, Receptor, Fibroblast Growth Factor, Type 2, Genetic Loci, Receptor, Australian Ovarian Cancer Study Group, Black People, Single-nucleotide polymorphism, Locus (genetics), Biology, determinant, White People, Article, Cell Line, estrogen-receptor binding, Promoter Regions, 03 medical and health sciences, Genetic, SDG 3 - Good Health and Well-being, Asian People, Breast Cancer, expression, ddc:610, Allele, 030304 developmental biology, Neoplastic, Prevention, Human Genome, Molecular biology, susceptibility loci, Gene Expression Regulation, genome-wide association, chromatin, Hypersensitive site, Chromatin immunoprecipitation
Abstract: The 10q26 locus in the second intron of FGFR2 is the locus most strongly associated with estrogen-receptor-positive breast cancer in genome-wide association studies. We conducted fine-scale mapping in case-control studies genotyped with a custom chip (iCOGS), comprising 41 studies (n = 89,050) of European ancestry, 9 Asian ancestry studies (n = 13,983), and 2 African ancestry studies (n = 2,028) from the Breast Cancer Association Consortium. We identified three statistically independent risk signals within the locus. Within risk signals 1 and 3, genetic analysis identified five and two variants, respectively, highly correlated with the most strongly associated SNPs. By using a combination of genetic fine mapping, data on DNase hypersensitivity, and electrophoretic mobility shift assays to study protein-DNA binding, we identified rs35054928, rs2981578, and rs45631563 as putative functional SNPs. Chromatin immunoprecipitation showed that FOXA1 preferentially bound to the risk-associated allele (C) of rs2981578 and was able to recruit ERα to this site in an allele-specific manner, whereas E2F1 preferentially bound the risk variant of rs35054928. The risk alleles were preferentially found in open chromatin and bound by Ser5 phosphorylated RNA polymerase II, suggesting that the risk alleles are associated with changes in transcription. Chromatin conformation capture demonstrated that the risk region was able to interact with the promoter of FGFR2, the likely target gene of this risk region. A role for FOXA1 in mediating breast cancer susceptibility at this locus is consistent with the finding that the FGFR2 risk locus primarily predisposes to estrogen-receptor-positive disease. © 2013 The American Society of Human Genetics.
Published: 2013
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34. Associations of Mammographic Dense and Nondense Areas and Body Mass Index With Risk of Breast Cancer

Author: Dallas R. English, Graham G. Giles, John L. Hopper, Carmel Apicella, Laura Baglietto, Melissa C. Southey, Jennifer Stone, and Kavitha Krishnan
Subjects: Risk, Oncology, medicine.medical_specialty, mammographic density, Epidemiology, Breast Neoplasms, Body Mass Index, Breast cancer, Internal medicine, breast neoplasms, prospective studies, risk, Breast, Case-Control Studies, Causality, Confounding Factors (Epidemiology), Female, Humans, Linear Models, Mammary Glands, Human, Mammography, Medicine (all), medicine, Prospective cohort study, Breast Density, medicine.diagnostic_test, business.industry, Confounding, Cancer, Confounding Factors, Epidemiologic, medicine.disease, Mammary Glands, Confidence interval, Relative risk, business, Body mass index, Human
Abstract: Mammographic density measurements are associated with risk of breast cancer. Few studies have investigated the concurrent associations of mammographic dense and nondense areas, body mass index (weight (kg)/height (m)(2)), and ages at mammogram and diagnosis with breast cancer risk. We conducted a matched, case-control study nested within the Melbourne Collaborative Cohort Study (cohort recruitment in 1990-1994 and follow-up until 2007) to estimate the associations between these factors and breast cancer risk under alternative causal models. Mammographic dense area was positively associated with risk, and the strength of this association was only slightly influenced by the choice of the causal model (relative risk per 1 standard deviation = 1.50, 95% confidence interval: 1.32, 1.70). Mammographic nondense area was inversely associated with risk under the assumption that fat in the body and fat in the breast cause breast cancer through independent mechanisms (relative risk per 1 standard deviation = 0.75, 95% confidence interval: 0.65, 0.86), whereas it was not associated with risk under the assumption that they are both proxies of adiposity. Knowledge about the biological mechanisms regulating the role played by mammographic nondense area and body fat on breast cancer risk is essential to better estimate their impacts on individual risk.
Published: 2013
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35. Prospective validation of the breast cancer risk prediction model BOADICEA and a batch-mode version BOADICEACentre

Author: G.G. Giles, Andy C. H. Lee, Melissa C. Southey, Robert J. MacInnis, James G. Dowty, Mary Beth Terry, Gillian S. Dite, P. Weideman, Kelly Aujard, Kelly-Anne Phillips, Carmel Apicella, Antonis C. Antoniou, John L. Hopper, and Adrian Bickerstaffe
Subjects: Adult, Oncology, Cancer Research, medicine.medical_specialty, Epidemiology, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Risk Assessment, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Surveys and Questionnaires, Internal medicine, medicine, Humans, Computer Simulation, Genetic Predisposition to Disease, Registries, skin and connective tissue diseases, Aged, 030304 developmental biology, validation, BRCA2 Protein, Family Health, Family health, Gynecology, 0303 health sciences, Models, Statistical, BRCA1 Protein, business.industry, Australia, Brca1 protein, Middle Aged, medicine.disease, 3. Good health, 030220 oncology & carcinogenesis, Batch processing, Female, business, Risk assessment, breast cancer incidence, risk prediction model, Algorithms
Abstract: Background: Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) is a risk prediction algorithm that can be used to compute estimates of age-specific risk of breast cancer. It is uncertain whether BOADICEA performs adequately for populations outside the United Kingdom. Methods: Using a batch mode version of BOADICEA that we developed (BOADICEACentre), we calculated the cumulative 10-year invasive breast cancer risk for 4176 Australian women of European ancestry unaffected at baseline from 1601 case and control families in the Australian Breast Cancer Family Registry. Based on 115 incident breast cancers, we investigated calibration, discrimination (using receiver-operating characteristic (ROC) curves) and accuracy at the individual level. Results: The ratio of expected to observed number of breast cancers was 0.92 (95% confidence interval (CI) 0.76–1.10). The E/O ratios by subgroups of the participant's relationship to the index case and by the reported number of affected relatives ranged between 0.83 and 0.98 and all 95% CIs included 1.00. The area under the ROC curve was 0.70 (95% CI 0.66–0.75) and there was no evidence of systematic under- or over-dispersion (P=0.2). Conclusion: BOADICEA is well calibrated for Australian women, and had good discrimination and accuracy at the individual level.
Published: 2013
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36. Tumour morphology predicts PALB2 germline mutation status

Author: John L. Hopper, Melissa C. Southey, Paul A. James, Gillian S. Dite, David E. Goldgar, Carmel Apicella, Linda Cicciarelli, Daniel J. Park, Saundra S. Buys, Elena Provenzano, Fabrice Odefrey, James G. Dowty, G.G. Giles, S Sawyer, Mary Beth Terry, Alison H. Trainer, Tu Nguyen-Dumont, Anna Marie Mulligan, Zhi Ling Teo, Esther M. John, Mary B. Daly, Geoffrey J. Lindeman, Irene L. Andrulis, Ingrid Winship, Gillian Mitchell, Kylie Shackleton, and Gord Glendon
Subjects: Oncology, Adult, Risk, Cancer Research, medicine.medical_specialty, Pathology, PALB2, Population, Breast Neoplasms, Biology, Germline, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Germline mutation, breast cancer, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, education, Molecular Diagnostics, Germ-Line Mutation, 030304 developmental biology, BRCA2 Protein, 0303 health sciences, education.field_of_study, Tumor Suppressor Proteins, tumour morphology, Nuclear Proteins, Odds ratio, Middle Aged, medicine.disease, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Female, Fanconi Anemia Complementation Group N Protein, hereditary
Abstract: Background: Population-based studies of breast cancer have estimated that at least some PALB2 mutations are associated with high breast cancer risk. For women carrying PALB2 mutations, knowing their carrier status could be useful in directing them towards effective cancer risk management and therapeutic strategies. We sought to determine whether morphological features of breast tumours can predict PALB2 germline mutation status. Methods: Systematic pathology review was conducted on breast tumours from 28 female carriers of PALB2 mutations (non-carriers of other known high-risk mutations, recruited through various resources with varying ascertainment) and on breast tumours from a population-based sample of 828 Australian women diagnosed before the age of 60 years (which included 40 BRCA1 and 18 BRCA2 mutation carriers). Tumour morphological features of the 28 PALB2 mutation carriers were compared with those of 770 women without high-risk mutations. Results: Tumours arising in PALB2 mutation carriers were associated with minimal sclerosis (odds ratio (OR)=19.7; 95% confidence interval (CI)=6.0–64.6; P=5 × 10−7). Minimal sclerosis was also a feature that distinguished PALB2 mutation carriers from BRCA1 (P=0.05) and BRCA2 (P=0.04) mutation carriers. Conclusion: This study identified minimal sclerosis to be a predictor of germline PALB2 mutation status. Morphological review can therefore facilitate the identification of women most likely to carry mutations in PALB2.
Published: 2013

37. 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium

Author: Javier Benitez, Frederik Marmé, Nichola Johnson, Ian W. Brock, Fiona M. Blows, Natalia Bogdanova, Arto Mannermaa, Peter Hillemanns, Hoda Anton-Culver, Anthony J. Swerdlow, Roger L. Milne, Jonathan Beesley, Veli-Matti Kosma, Guzel Zinnatullina, Paolo Peterlongo, Irene L. Andrulis, Annika Lindblom, Dieter Flesch-Janys, Ann Smeets, Arif B. Ekici, Pascal Guénel, Vesa Kataja, Thomas Brüning, Graham G. Giles, Isabel dos-Santos-Silva, Douglas F. Easton, Yuriy Rogov, Ruediger Schulz-Wendtland, Pierre Laurent-Puig, Thilo Dörk, Malcolm W.R. Reed, Heiko Müller, Linda M. Braaf, Janet E. Olson, Cariona A. McLean, Leslie Bernstein, Elinor J. Sawyer, Jaana M. Hartikainen, Siranoush Manoukian, Robert Paridaens, Marina Bermisheva, Natalia Antonenkova, Ian Tomlinson, Thérèse Truong, Minouk J. Schoemaker, Anna Marie Mulligan, Elza Khusnutdinova, Xianshu Wang, Christof Sohn, Katri Pylkäs, Caroline M. Seynaeve, Christina Clarke Dur, Caroline Weltens, Sune F. Nielsen, Carl Blomqvist, Nick Orr, Hiltrud Brauch, Maryam Mahmoodi, Shan Wang-Gohrke, Melissa C. Southey, Fergus J. Couch, Olivia Fletcher, Mervi Grip, Nayana Weerasooriya, Georgia Chenevix-Trench, Rita K. Schmutzler, Julian Peto, Jenny Chang-Claude, Peter Schürmann, Frank Dudbridge, John W.M. Martens, Robert Winqvist, Surapon Wiangnon, Celine M. Vachon, Arkom Chaiwerawattana, Hermann Brenner, Artitaya Lophatananon, Arja Jukkola-Vuorinen, Peter A. Fasching, Børge G. Nordestgaard, Manjeet K. Humphreys, Barbara Burwinkel, Kristiina Aittomäki, Marjanka K. Schmidt, Argyrios Ziogas, Michael Bremer, Paul D.P. Pharoah, Loris Bernard, Alexander Miron, Sara Margolin, Kamila Czene, Diether Lambrechts, Claus R. Bartram, Annegien Broeks, Maya Ghoussaini, John L. Hopper, Simon S. Cross, Matthias W. Beckmann, Per Hall, Agnes Jager, Stig E. Bojesen, Michael Jones, Darya Prokofyeva, Julia A. Knight, Alan Ashworth, Taru A. Muranen, Xiaoqing Chen, Esther M. John, Claire Mulot, Alfons Meindl, Ursula Eilber, Laura Baglietto, José Ignacio Arias-Perez, Peter Devilee, Henrik Flyger, Sten Cornelissen, Jingmei Li, Katharina Buck, Carmel Apicella, Michael J. Kerin, Gianluca Severi, Alison M. Dunning, Kenneth Muir, Anne Langheinz, Andreas Schneeweiss, Heli Nevanlinna, Michael Golatta, Christina Justenhoven, Antoinette Hollestelle, Jianjun Liu, Helen R. Warren, Sabine Behrens, Madeleine M.A. Tilanus-Linthorst, Angela Cox, Maartje J. Hooning, Qin Wang, Paolo Radice, Volker Arndt, Robert A.E.M. Tollenaar, M. Pilar Zamora, Medical Oncology, Surgery, and Clinical Genetics
Subjects: Oncology, Pathology, Epidemiology, Estrogen receptor, population, Genome-wide association study, genetic risk, 0302 clinical medicine, Receptors, common variants, Progesterone, 0303 health sciences, education.field_of_study, identifies 2, Chromosome Mapping, Single Nucleotide, Middle Aged, 5p12, 3. Good health, Receptors, Estrogen, 030220 oncology & carcinogenesis, alleles, Female, Chromosomes, Human, Pair 9, Receptors, Progesterone, linkage, Human, Pair 9, medicine.medical_specialty, Population, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, Chromosomes, Article, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Polymorphism, Allele, education, Aged, 030304 developmental biology, menarche, Case-control study, Cancer, medicine.disease, confer susceptibility, Estrogen, Case-Control Studies, genome-wide association, Genome-Wide Association Study
Abstract: Background: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686). Methods: To further investigate the rs865686–breast cancer association, we conducted a replication study within the Breast Cancer Association Consortium, which comprises 37 case–control studies (48,394 cases, 50,836 controls). Results: This replication study provides additional strong evidence of an inverse association between rs865686 and breast cancer risk [study-adjusted per G-allele OR, 0.90; 95% confidence interval (CI), 0.88; 0.91, P = 2.01 × 10−29] among women of European ancestry. There were ethnic differences in the estimated minor (G)-allele frequency among controls [0.09, 0.30, and 0.38 among, respectively, Asians, Eastern Europeans, and other Europeans; P for heterogeneity (Phet) = 1.3 × 10−143], but no evidence of ethnic differences in per allele OR (Phet = 0.43). rs865686 was associated with estrogen receptor–positive (ER+) disease (per G-allele OR, 0.89; 95% CI, 0.86–0.91; P = 3.13 × 10−22) but less strongly, if at all, with ER-negative (ER−) disease (OR, 0.98; 95% CI, 0.94–1.02; P = 0.26; Phet = 1.16 × 10−6), with no evidence of independent heterogeneity by progesterone receptor or HER2 status. The strength of the breast cancer association decreased with increasing age at diagnosis, with case-only analysis showing a trend in the number of copies of the G allele with increasing age at diagnosis (P for linear trend = 0.0095), but only among women with ER+ tumors. Conclusions: This study is the first to show that rs865686 is a susceptibility marker for ER+ breast cancer. Impact: The findings further support the view that genetic susceptibility varies according to tumor subtype. Cancer Epidemiol Biomarkers Prev; 21(10); 1783–. ©2012 AACR.
Published: 2016

38. 11q13 is a susceptibility locus for hormone receptor positive breast cancer

Author: Dong Young Noh, Pascal Guénel, Graeme Elliott, Vesa Kataja, Shamil Gancev, Xianshu Wang, Shan Wang-Gohrke, Annegien Broeks, Florence Menegaux, Hans Wildiers, Richard van Hien, Natalia Bogdanova, Jean Wang, Puttisak Puttawibul, Betül T. Yesilyurt, Peter Devilee, Gord Glendon, Katri Pylkäs, Mark E. Sherman, Jenny Chang-Claude, Federik Marme, Michael Bremer, Katarzyna Durda, Sarah Schott, Vessela N. Kristensen, Paolo Radice, Teresa Selander, Kamila Czene, Alfons Meindl, Gianluca Severi, Angela Cox, Maartje J. Hooning, Claus R. Bartram, John L. Hopper, Ursel Eilber, Michael Jones, M. Pilar Zamora, Stephen J. Chanock, Laura Baglietto, Caroline M. Seynaeve, Daehee Kang, Thilo Dörk, Rita K. Schmutzler, Julian Peto, Børge G. Nordestgaard, Loris Bernard, Stig E. Bojesen, Barbara Burwinkel, Douglas F. Easton, Arif B. Ekici, kConFab Investigators, Mervi Grip, Robert A.E.M. Tollenaar, Argyrios Ziogas, Jonathan Beesley, Paolo Peterlongo, Volker Arndt, Xiaoqing Chen, Nichola Johnson, Jaana M. Hartikainen, Ming-Feng Hou, Diether Lambrechts, Ruediger Schulz-Wendtland, Jan Lubinski, Taru A. Muranen, Heli Nevanlinna, Esther M. John, Graham G. Giles, Chen-Yang Shen, Jolanta Lissowska, Ian W. Brock, Grethe I. Grenaker Alnæs, Gillian S. Dite, Charlotte Lanng, Hiltrud Brauch, Anthony J. Swerdlow, MC Southey, Christina Justenhoven, Manjeet K. Humphreys, Keun-Young Yoo, Elinor J. Sawyer, Emilie Cordina-Duverger, Jose Ignacio Arias Perez, Fergus J. Couch, Peter Schürmann, Stefan Nickels, Jianjun Liu, Marjanka K. Schmidt, Zachary S. Fredericksen, Yuri I. Rogov, Ute Hamann, Elza Khusnutdinova, Hermann Brenner, Sara Margolin, Natalia Antonenkova, Peter A. Fasching, Matthias W. Beckmann, Johann H. Karstens, Montserrat Garcia-Closas, Patrick Neven, Thomas Brüning, Carl Blomqvist, Heiko Müller, Jyh Cherng Yu, Katarzyna Jaworska, Yon Ko, Pei Ei Wu, Arto Mannermaa, Rebecca Hein, Darya Prokofieva, Melissa C. Southey, Andreas Schneeweiss, Irene L. Andrulis, Christa Stegmaier, Robert Winqvist, Annika Lindblom, Anna Jakubowska, Paul D.P. Pharoah, Peter Hillemanns, Alexander Miron, Roger L. Milne, Marina Bermisheva, Dieter Flesch-Janys, Christof Sohn, Nicola Miller, Georgia Chenevix-Trench, Kristiina Aittomäki, Ian Tomlinson, Thérèse Truong, Anna Marie Mulligan, Siranoush Manoukian, Robert Paridaens, Anne Lise Børresen-Dale, Suthee Rattanamongkongul, Olivia Fletcher, Simon S. Cross, Artitaya Lophatananon, Isabel dos Santos Silva, Janet E. Olson, Nick Orr, Per Hall, Alan Ashworth, Javier Benitez, Hoda Anton-Culver, Veli-Matti Kosma, Alison M. Dunning, Kenneth Muir, Sten Cornelissen, Carmel Apicella, Arja Jukkola-Vuorinen, Michael J. Kerin, ~, and Medical Oncology
Subjects: Oncology, hormone receptor status, Estrogen receptor, Genome-wide association study, 0302 clinical medicine, Risk Factors, Genotype, Receptors, single-nucleotide polymorphisms, common variants, Pair 11, Progesterone, Genetics (clinical), Genetics, 0303 health sciences, repair genes, Single Nucleotide, identifies 5, 11q13, Breast cancer susceptibility, Genome-wide association, Hormone receptor status, Polymorphisms, Risk factors, Breast Neoplasms, Chromosomes, Human, Pair 11, European Continental Ancestry Group, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Receptors, Estrogen, Receptors, Progesterone, 3. Good health, ovarian-cancer, 030220 oncology & carcinogenesis, Human, brca1 mutations, medicine.medical_specialty, Single-nucleotide polymorphism, Biology, Chromosomes, Article, White People, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Internal medicine, Progesterone receptor, medicine, Polymorphism, 030304 developmental biology, breast cancer susceptibility, Odds ratio, tumor characteristics, medicine.disease, confer susceptibility, Estrogen, genome-wide association, family registry, Ovarian cancer, polymorphisms
Abstract: Journal article A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P â ¤ 3 Ã 10(-9) ) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 Ã 10(-39) ). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype. EC Seventh Framework Programme - grant number HEALTH-F2-2009-223175 peer-reviewed
Published: 2016
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39. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

Author: Jirong Long, Simon S. Cross, Marc Tischkowitz, Beth Y. Karlan, Trinidad Caldés, Fergus J. Couch, Charlotte Sagne, Ute Hamann, Olga M. Sinilnikova, Maria Kabisch, Richard C Sallari, Gad Rennert, Daniel Barrowdale, Elinor J. Sawyer, Anthony J. Swerdlow, Jenny Lester, Åke Borg, Anders Bojesen, Rosa B. Barkardottir, Simon A. Gayther, Heli Nevanlinna, Judy Garber, Norbert Arnold, Vilde Drageset Haakensen, Vessela N. Kristensen, Christopher G. Scott, Daehee Kang, Gillian Mitchell, Eitan Friedman, Laura Ottini, Diether Lambrechts, Manjeet K. Bolla, Robert L. Nussbaum, Tomasz Huzarski, Dieter Niederacher, Angela Cox, Rachel Laframboise, Maartje J. Hooning, Volker Arndt, Penny Soucy, Marjanka K. Schmidt, William Blot, Soo Hwang Teo, Anne Lise Børresen-Dale, Maria A. Caligo, Ana Osorio, Orland Diez, Gertraud Maskarinec, Johanna Rantala, Kelly-Anne Phillips, Pascal Guénel, Hidemi Ito, Miquel Angel Pujana, Anna H. Wu, Christy G. Woolcott, Maya Ghoussaini, Hatef Darabi, Sander Canisius, Kay-Tee Khaw, Irene Konstantopoulou, Carl Blomqvist, Christine Rappaport, Joan Brunet, Hermann Brenner, Sylvie Mazoyer, Irene L. Andrulis, Nicholas A Sinnott-Armstrong, Javier Benitez, Claudine Isaacs, Mahdi Moradi Marjaneh, Joseph Vijai, Jennifer Stone, Qin Wang, Caroline Seynaeve, Patricia A. Ganz, Sara Margolin, Paolo Radice, Janet E. Olson, Soo-Chin Lee, Mark H. Greene, Laura Papi, Carmel Apicella, Ava Kwong, Mitul Shah, Matthias W. Beckmann, Yael Laitman, Hoda Anton-Culver, Ans M.W. van den Ouweland, Sue K. Park, Annegien Broeks, Georgia Chenevix-Trench, Jonathan Beesley, Nadja Bogdanova-Markov, Paolo Peterlongo, Paraskevi Apostolou, Bernardo Bonanni, Frederik Marmé, Veli-Matti Kosma, Alfons Meindl, Brian E. Henderson, Rulla M. Tamimi, Siranoush Manoukian, Bent Ejlertsen, Miroslav Kapuscinski, Juliet D. French, Mark E. Sherman, Ji Yeob Choi, Graham G. Giles, Stacey L. Edwards, Evgeny N. Imyanitov, Kamila Czene, Thomas Hansen, Nick Orr, Susanne Kaufmann, Lenka Foretova, Celine M. Vachon, Edith Olah, Anja Rudolph, Arto Mannermaa, Phuong L. Mai, Isabel dos-Santos-Silva, Haran Sivakumaran, Francesca Damiola, Christian F. Singer, Muhammad Usman Rashid, Ed Dicks, Mikael Hartman, Antonis C. Antoniou, Dominique Stoppa-Lyonnet, Douglas F. Easton, Alison M. Dunning, John L. Hopper, Nadine Tung, Annika Lindblom, Kristiina Aittomäki, Kenneth Muir, Sue Healey, Cheng Har Yip, Mads Thomassen, Melissa C. Southey, Ramunas Janavicius, Cecilia M. Dorfling, Christine B. Ambrosone, Siddhartha Kar, Mary B. Daly, Artitaya Lophatananon, Rachel Rando, Banu Arun, Christopher A. Haiman, Catherine M. Phelan, Margaret Hills, Manuel R. Teixeira, Diana Torres, Hans Wildiers, Andrew K. Godwin, Keith Humphreys, Katri Pylkäs, Monika Jarosz, Susan L. Neuhausen, Montserrat Garcia-Closas, Robert Winqvist, Joe Dennis, Sook-Yee Yoon, Wei Zheng, Mitch Dowsett, Gord Glendon, Natasha Bogdanova, Suleeporn Sangrajrang, Steve Ellis, Paul Brennan, Lee Eunjung, Keitaro Matsuo, Jacek Gronwald, David E. Goldgar, Debra Frost, Chiu-Chen Tseng, Henrik Flyger, Kristine M. Hillman, Susan M. Domchek, Elena Lopez-Knowles, Bernard Peissel, Anna von Wachenfeldt, Karoline Kuchenbaecker, Anna Jakubowska, Paul D.P. Pharoah, Jose Ignacio Arias Perez, Kim De Leeneer, Roger L. Milne, Peter A. Fasching, Louise Izatt, Saundra S. Buys, Lesley McGuffog, Elizabeth J. van Rensburg, Pei-Ei Wu, Peter Devilee, Åslaug Helland, Qiuyin Cai, Peter J. Hulick, Miguel de la Hoya, Esther M. John, Kerstin Rhiem, Jan Lubinski, Karen A. Pooley, Marion Piedmonte, Catherine S. Healey, Mark S. Goldberg, Xiao-Ou Shu, Antoinette Hollestelle, Mary Beth Terry, Jenny Chang-Claude, Silje Nord, Chen-Yang Shen, Hiltrud Brauch, Kathleen Claes, Jason Sang Hun Lee, Sofia Khan, Katherine L. Nathanson, Hans Ehrencrona, Olufunmilayo I. Olopade, Stig E. Bojesen, Matti A. Rookus, Andrew Lee, Rita K. Schmutzler, Julian Peto, Jeffrey N. Weitzel, Barbara Burwinkel, Arjen R. Mensenkamp, Jacques Simard, Yu-Tang Gao, Robert Luben, S. Drury, Thilo Dörk, Laima Tihomirova, Per Hall, Barbara Perkins, Simona Agata, Jonine D. Figueroa, Julia A. Knight, Kenneth Offit, Kyriaki Michailidou, Anna González-Neira, Ian Tomlinson, Thérèse Truong, Amanda E. Toland, Anna Marie Mulligan, Noralane M. Lindor, Deborah J. Thompson, Marco Montagna, Clinical Genetics, Medical Oncology, Obstetrics & Gynecology, Dunning, Alison [0000-0001-6651-7166], Thompson, Deborah [0000-0003-1465-5799], Pooley, Karen [0000-0002-1274-9460], Dicks, Ed [0000-0002-0617-0401], Dennis, Joe [0000-0003-4591-1214], Wang, Jean [0000-0002-9139-0627], Ghoussaini, Maya [0000-0002-2415-2143], Lee, Andrew [0000-0003-0677-0252], Tischkowitz, Marc [0000-0002-7880-0628], Luben, Robert [0000-0002-5088-6343], Khaw, Kay-Tee [0000-0002-8802-2903], Pharoah, Paul [0000-0001-8494-732X], Antoniou, Antonis [0000-0001-9223-3116], Easton, Douglas [0000-0003-2444-3247], Apollo - University of Cambridge Repository, Targeted Gynaecologic Oncology (TARGON), Damage and Repair in Cancer Development and Cancer Treatment (DARE), and [ 1 ] Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England [ 2 ] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England [ 3 ] QIMR Berghofer Med Res Inst, Canc Div, Brisbane, Qld, Australia [ 4 ] Breakthrough Breast Canc Res Ctr, Breast Canc Res, London, England [ 5 ] Royal Marsden Hosp, Acad Biochem, London SW3 6JJ, England [ 6 ] Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA [ 7 ] MIT, Comp Sci & Artificial Intelligence Lab, 77 Massachusetts Ave, Cambridge, MA 02139 USA [ 8 ] Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Amsterdam, Netherlands [ 9 ] Univ Melbourne, Sch Populat & Global Hlth, Ctr Biostat & Epidemiol, Melbourne, Vic, Australia [ 10 ] Univ Melbourne, Dept Pathol, Melbourne, Vic, Australia [ 11 ] Univ Warwick, Warwick Med Sch, Div Hlth Sci, Coventry CV4 7AL, W Midlands, England [ 12 ] Univ Manchester, Inst Populat Hlth, Manchester, Lancs, England [ 13 ] Univ Erlangen Nurnberg, Univ Hosp Erlangen, Dept Gynecol & Obstet, Comprehens Canc Ctr Erlangen Nuremberg Metropolit, D-91054 Erlangen, Germany [ 14 ] Univ Calif Los Angeles, David Geffen Sch Med, Div Hematol & Oncol, Dept Med, Los Angeles, CA 90095 USA [ 15 ] London Sch Hyg & Trop Med, Dept Noncommunicable Dis Epidemiol, London WC1, England [ 16 ] Kings Coll London, Guys Hosp, Div Canc Studies, Res Oncol, London, England [ 17 ] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England [ 18 ] Univ Oxford, Oxford Biomed Res Ctr, Oxford, England [ 19 ] German Canc Res Ctr, Div Mol Genet Epidemiol, Heidelberg, Germany [ 20 ] German Canc Res Ctr, Mol Epidemiol Grp, Heidelberg, Germany [ 21 ] Heidelberg Univ, Natl Ctr Tumor Dis, Heidelberg, Germany [ 22 ] Heidelberg Univ, Dept Obstet & Gynecol, Heidelberg, Germany [ 23 ] INSERM, Ctr Res Epidemiol & Populat Hlth, Environm Epidemiol Canc, Villejuif, France [ 24 ] Univ Paris Sud, Villejuif, France [ 25 ] Copenhagen Univ Hosp, Herlev Hosp, Copenhagen Gen Populat Study, Herlev, Denmark [ 26 ] Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, Herlev, Denmark [ 27 ] Univ Copenhagen, Fac Hlth & Med Sci, Copenhagen, Denmark [ 28 ] Copenhagen Univ Hosp, Herlev Hosp, Dept Breast Surg, Herlev, Denmark [ 29 ] Spanish Natl Canc Ctr CNIO, Human Canc Genet Program, Madrid, Spain [ 30 ] Hosp Monte Naranco, Serv Cirugia Gen & Especialidades, Oviedo, Spain [ 31 ] Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA [ 32 ] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA [ 33 ] German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany [ 34 ] German Canc Res Ctr, German Canc Consortium, Heidelberg, Germany [ 35 ] Tech Univ Munich, Dept Obstet & Gynaecol, D-80290 Munich, Germany [ 36 ] Univ Hosp Cologne, Dept Obstet & Gynaecol, Div Mol Gynecooncol, Cologne, Germany [ 37 ] Univ Hosp Cologne, Ctr Familial Breast & Ovarian Canc, Cologne, Germany [ 38 ] Univ Hosp, Ctr Integrated Oncol, Cologne, Germany [ 39 ] Dr Margarete Fischer Bosch Inst Clin Pharmacol, Auerbachstr 112, Stuttgart, Germany [ 40 ] Univ Tubingen, Tubingen, Germany [ 41 ] German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany [ 42 ] Helsinki Univ Cent Hosp, Dept Clin Genet, Helsinki, Finland [ 43 ] Univ Helsinki, Helsinki Univ Cent Hosp, Dept Oncol, Helsinki, Finland [ 44 ] Aichi Canc Ctr Res Inst, Div Epidemiol & Prevent, Aichi, Japan [ 45 ] Aichi Canc Ctr Res Inst, Div Mol Med, Nagoya, Aichi, Japan [ 46 ] Hannover Med Sch, Radiat Oncol Res Unit, Hannover, Germany [ 47 ] Hannover Med Sch, Gynaecol Res Unit, Hannover, Germany [ 48 ] Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden [ 49 ] Karolinska Univ Hosp, Dept Oncol Pathol, Stockholm, Sweden [ 50 ] Kuopio Univ Hosp, Ctr Canc, SF-70210 Kuopio, Finland [ 51 ] Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Kuopio, Finland [ 52 ] Kuopio Univ Hosp, Dept Clin Pathol, Imaging Ctr, SF-70210 Kuopio, Finland [ 53 ] Vesalius Res Ctr, Leuven, Belgium [ 54 ] Univ Leuven, Dept Oncol, Lab Translat Genet, Leuven, Belgium [ 55 ] Univ Hosp Leuven, Dept Gen Med Oncol, Multidisciplinary Breast Ctr, Leuven, Belgium [ 56 ] German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany [ 57 ] Univ Med Ctr Hamburg Eppendorf, UCCH, Hamburg, Germany [ 58 ] Fdn Ist FIRC Oncol Mol, IFOM, Milan, Italy [ 59 ] Fdn IRCCS Ist Nazl Tumori, Dept Prevent & Predict Med, Unit Mol Basis Genet Risk & Genet Testing, Milan, Italy [ 60 ] Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA [ 61 ] Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Vic, Australia [ 62 ] McGill Univ, Dept Med, Montreal, PQ, Canada [ 63 ] McGill Univ, Royal Victoria Hosp, Div Clin Epidemiol, Montreal, PQ H3A 1A1, Canada [ 64 ] Sime Darby Med Ctr, Canc Res Initiat Fdn, Subang Jaya, Malaysia [ 65 ] Univ Malaya, Med Ctr, Canc Res Inst, Breast Canc Res Unit, Kuala Lumpur, Malaysia [ 66 ] Radiumhospitalet, Oslo Univ Hosp, Inst Canc Res, Dept Genet, Oslo, Norway [ 67 ] Univ Oslo, Inst Clin Med, Oslo, Norway [ 68 ] Univ Oslo, Oslo Univ Hosp, Dept Clin Mol Biol, Oslo, Norway [ 69 ] Vanderbilt Univ, Sch Med, Vanderbilt Ingram Canc Ctr, Div Epidemiol,Dept Med, Nashville, TN 37212 USA [ 70 ] Univ Oulu, NordLab Oulu Univ Hosp, Dept Clin Chem, Lab Canc Genet & Tumor Biol, Oulu, Finland [ 71 ] Univ Oulu, NordLab Oulu Univ Hosp, Bioctr Oulu, Oulu, Finland [ 72 ] Northern Finland Lab Ctr NordLab, Lab Canc Genet & Tumor Biol, Oulu, Finland [ 73 ] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada [ 74 ] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada [ 75 ] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Prosserman Ctr Hlth Res, Toronto, ON M5G 1X5, Canada [ 76 ] Univ Toronto, Dalla Lana Sch Publ Hlth, Div Epidemiol, Toronto, ON, Canada [ 77 ] Leiden Univ Med Ctr, Dept Pathol, Leiden, Netherlands [ 78 ] Leiden Univ Med Ctr, Dept Human Genet, Leiden, Netherlands [ 79 ] Erasmus MC, Dept Med Oncol, Rotterdam, Netherlands [ 80 ] NCI, Div Canc Epidemiol & Genet, Rockville, MD USA [ 81 ] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden [ 82 ] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands [ 83 ] Shanghai Canc Inst, Dept Epidemiol, Shanghai, Peoples R China [ 84 ] Univ Sheffield, Sheffield Canc Res, Dept Oncol, Sheffield, S Yorkshire, England [ 85 ] Univ Sheffield, Dept Neurosci, Acad Unit Pathol, Sheffield, S Yorkshire, England [ 86 ] Int Epidemiol Inst, Rockville, MD USA [ 87 ] Seoul Natl Univ, Coll Med, Dept Prevent Med, Seoul, South Korea [ 88 ] Seoul Natl Univ, Coll Med, Dept Biomed Sci, Seoul, South Korea [ 89 ] Seoul Natl Univ, Coll Med, Canc Res Inst, Seoul, South Korea [ 90 ] Natl Univ Hlth Syst, Dept Haematol Oncol, Singapore, Singapore [ 91 ] Natl Univ Singapore, Canc Sci Inst Singapore, Singapore 117548, Singapore [ 92 ] Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117548, Singapore [ 93 ] Natl Univ Hlth Syst, Dept Surg, Singapore, Singapore [ 94 ] Pontificia Univ Javerianar, Inst Human Genet, Bogota, Colombia [ 95 ] Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland [ 96 ] Int Agcy Res Canc, 150 Cours Albert Thomas, F-69372 Lyon, France [ 97 ] Natl Canc Inst, Bangkok, Thailand [ 98 ] Roswell Pk Canc Inst, Buffalo, NY 14263 USA [ 99 ] Ohio State Univ, Ctr Comprehens Canc, Dept Mol Virol Immunol & Med Genet, Columbus, OH 43210 USA [ 100 ] China Med Univ, Sch Publ Hlth, Taichung, Taiwan [ 101 ] Acad Sinica, Inst Biomed Sci, Taiwan Biobank, Taipei, Taiwan [ 102 ] Inst Canc Res, Breakthrough Breast Canc Res Ctr, Div Canc Studies, London SW3 6JB, England [ 103 ] Inst Canc Res, Div Genet & Epidemiol, London SW3 6JB, England [ 104 ] Inst Canc Res, Div Breast Canc Res, London SW3 6JB, England [ 105 ] Univ Melbourne, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia [ 106 ] Canc Prevent Inst Calif, Dept Epidemiol, Fremont, CA USA [ 107 ] Columbia Univ, Dept Epidemiol, Mailman Sch Publ Hlth, New York, NY USA [ 108 ] Fox Chase Canc Ctr, Dept Clin Genet, 7701 Burholme Ave, Philadelphia, PA 19111 USA [ 109 ] Univ Utah, Sch Med, Dept Dermatol, Huntsman Canc Inst, Salt Lake City, UT USA [ 110 ] Univ Utah, Sch Med, Dept Med, Huntsman Canc Inst, Salt Lake City, UT USA [ 111 ] State Res Inst Ctr Innovat Med, Vilnius, Lithuania [ 112 ] Latvian Biomed Res & Study Ctr, Riga, Latvia [ 113 ] Beth Israel Deaconess Med Ctr, Dept Med Oncol, Boston, MA 02215 USA [ 114 ] Univ Pretoria, Dept Genet, ZA-0002 Pretoria, South Africa [ 115 ] Beckman Res Inst City Hope, Dept Populat Sci, Duarte, CA USA [ 116 ] Copenhagen Univ Hosp, Rigshosp, Dept Oncol, Copenhagen, Denmark [ 117 ] Copenhagen Univ Hosp, Rigshosp, Ctr Genom Med, Copenhagen, Denmark [ 118 ] Spanish Natl Canc Ctr CNIO, Human Genet Grp, Madrid, Spain [ 119 ] Biomed Network Rare Dis CIBERER, Madrid, Spain [ 120 ] Spanish Natl Canc Res Ctr CNIO, Human Canc Genet Program, Human Genotyping CEGEN Unit, Madrid, Spain [ 121 ] City Hope Clin Canc Genom Community Res Network, Duarte, CA USA [ 122 ] City Hope Natl Med Ctr, Clin Canc Genet, Duarte, CA USA [ 123 ] Ist Europeo Oncol, Div Canc Prevent & Genet, Milan, Italy [ 124 ] Ist Nazl Tumori, Fdn Ist Ricovero & Cura Carattere Sci, Dept Prevent & Predict Med, Unit Med Genet, Via Venezian 1, I-20133 Milan, Italy [ 125 ] Univ Florence, Dept Biomed Expt & Clin Sci, Unit Med Genet, Florence, Italy [ 126 ] Univ Roma La Sapienza, Dept Mol Med, Piazzale Aldo Moro 5, I-00185 Rome, Italy [ 127 ] Aghia Paraskevi Attikis, Natl Ctr Sci Res Demokritos, INRASTES Inst Nucl & Radiol Sci & Technol, Mol Diagnost Lab, Athens, Greece [ 128 ] Dana Farber Canc Inst, Canc Risk & Prevent Clin, Boston, MA 02115 USA [ 129 ] Shaukat Khanum Mem Canc Hosp & Res Ctr, Dept Basic Sci, Lahore, Pakistan [ 130 ] Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Clin Genet, London, England [ 131 ] Univ Kansas, Med Ctr, Dept Pathol & Lab Med, Kansas City, KS 66103 USA [ 132 ] Univ Kiel, Univ Hosp Schleswig Holstein, Dept Gynaecol & Obstet, Campus Kiel, Kiel, Germany [ 133 ] Univ Dusseldorf, Dusseldorf, Germany [ 134 ] Univ Hosp Cologne, Ctr Mol Med Cologne, Dept Obstet & Gynaecol, Ctr Familial Breast & Ovarian Canc, Cologne, Germany [ 135 ] Univ Hosp Cologne, Ctr Mol Med Cologne, Ctr Integrated Oncol, Cologne, Germany [ 136 ] Univ Munster, Inst Human Genet, D-48149 Munster, Germany [ 137 ] Univ Lyon 1, CNRS UMR 5286, INSERM U1052, Ctr Rech Cancerol Lyon, F-69365 Lyon, France [ 138 ] Inst Curie, Dept Tumour Biol, Paris, France [ 139 ] Univ Paris 05, Sorbonne Paris Cite, Paris, France [ 140 ] Hosp Civils Lyon, Ctr Leon Berard, Unite Mixte Genet Constitutionnelle Canc Frequent, Lyon, France [ 141 ] Georgetown Univ, Lombardi Comprehens Canc Ctr, Washington, DC USA [ 142 ] Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium [ 143 ] Hosp Clin San Carlos, IdISSC, Mol Oncol Lab, Madrid, Spain [ 144 ] Univ Helsinki, Dept Obstet & Gynecol, Helsinki, Finland [ 145 ] Univ Helsinki, Cent Hosp, Helsinki, Finland [ 146 ] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands [ 147 ] Erasmus Univ, Med Ctr, Family Canc Clin, Dept Med Oncol, Rotterdam, Netherlands [ 148 ] Netherlands Canc Inst, Dept Epidemiol, Amsterdam, Netherlands [ 149 ] Hong Kong Sanat & Hosp, Canc Genet Ctr, Hong Kong Hereditary Breast Canc Family Registry, Hong Kong, Hong Kong, Peoples R China [ 150 ] Univ Hong Kong, Dept Surg, Hong Kong, Hong Kong, Peoples R China [ 151 ] Natl Inst Oncol, Dept Mol Genet, Budapest, Hungary [ 152 ] Vall dHebron Univ Hosp, VHIO, Oncogenet Lab, Barcelona, Spain [ 153 ] Catalan Inst Oncol, IDIBGI, Hereditary Canc Program, Genet Counseling Unit, Girona, Spain [ 154 ] Catalan Inst Oncol, IDIBELL Bellvitge Biomed Res Inst, Breast Canc & Syst Biol Unit, Barcelona, Spain [ 155 ] Univ Iceland, Fac Med, Landspitali Univ Hosp, Dept Pathol, Reykjavik, Iceland Organization-Enhanced Name(s) Landspitali National University Hospital University of Iceland [ 156 ] Univ Iceland, Fac Med, Biomed Ctr BMC, Reykjavik, Iceland [ 157 ] Ctr Hosp Univ Quebec, Div Med Genet, Quebec City, PQ, Canada [ 158 ] Univ Laval, Quebec City, PQ, Canada [ 159 ] Ctr Hosp Univ Quebec, Quebec City, PQ, Canada [ 160 ] IRCCS, IOV, Immunol & Mol Oncol Unit, Padua, Italy [ 161 ] Portuguese Oncol Inst, Dept Genet, Oporto, Portugal [ 162 ] Univ Porto, Biomed Sci Inst ICBAS, Rua Campo Alegre 823, P-4100 Oporto, Portugal [ 163 ] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA [ 164 ] McGill Univ, Program Canc Genet, Montreal, PQ, Canada [ 165 ] Masaryk Univ, Masaryk Mem Canc Inst, Brno, Czech Republic [ 166 ] Masaryk Univ, Fac Med, Brno, Czech Republic [ 167 ] Mem Sloan Kettering Canc Ctr, Dept Med, 1275 York Ave, New York, NY 10021 USA [ 168 ] Med Univ Vienna, Ctr Comprehens Canc, Dept Obstet & Gynecol, Vienna, Austria [ 169 ] Univ S Florida, H Lee Moffitt Canc Ctr, Dept Canc Epidemiol, Tampa, FL 33682 USA [ 170 ] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, US NIH, Rockville, MD USA [ 171 ] Carmel Hosp, Dept Community Med & Epidemiol, Haifa, Israel [ 172 ] Technion Israel Inst Technol, Bruce Rappaport Fac Med, POB 9649, IL-31096 Haifa, Israel [ 173 ] Clalit Natl Israeli Canc Control Ctr, Haifa, Israel [ 174 ] NN Petrov Oncol Res Inst, St Petersburg, Russia [ 175 ] NorthShore Univ Hlth Syst, Ctr Med Genet, Evanston, IL USA [ 176 ] Peter MacCallum Canc Ctr, Div Canc Med, East Melbourne, Vic, Australia [ 177 ] Roswell Pk Canc Inst, Stat & Data Management Ctr, NRG Oncol, Buffalo, NY 14263 USA [ 178 ] Univ Hlth Network, Lab Med Program, Toronto, ON, Canada [ 179 ] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada [ 180 ] Vejle Hosp, Dept Clin Genet, Vejle, Denmark [ 181 ] Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark [ 182 ] Univ Pisa, Dept Lab Med, Sect Genet Oncol, Pisa, Italy [ 183 ] Univ Hosp Pisa, Pisa, Italy [ 184 ] Univ Malaya, Univ Malaya Med Ctr, Fac Med, Univ Malaya Canc Res Inst, Kuala Lumpur, Malaysia [ 185 ] Chaim Sheba Med Ctr, Susanne Levy Gertner Oncogenet Unit, IL-52621 Tel Hashomer, Israel [ 186 ] Lund Univ, Dept Oncol, Lund, Sweden [ 187 ] Uppsala Univ, Dept Immunol Genet & Pathol, Uppsala, Sweden [ 188 ] Univ Lund Hosp, Dept Clin Genet, S-22185 Lund, Sweden [ 189 ] Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden [ 190 ] Univ Chicago, Med Ctr, Ctr Clin Canc Genet & Global Hlth, Chicago, IL 60637 USA [ 191 ] Univ Calif Los Angeles, Sch Med, Johnsson Comprehens Canc Ctr, Div Canc Prevent & Control Res, Los Angeles, CA USA [ 192 ] Univ Calif Los Angeles, Sch Publ Hlth, Johnsson Comprehens Canc Ctr, Div Canc Prevent & Control Res, Los Angeles, CA USA [ 193 ] Univ Calif San Francisco, Dept Med & Genet, San Francisco, CA 94143 USA [ 194 ] Univ Penn, Abramson Canc Ctr, Perelman Sch Med, Philadelphia, PA 19104 USA [ 195 ] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA [ 196 ] Peter MacCallum Canc Ctr, Familial Canc Ctr, Melbourne, Vic, Australia [ 197 ] Univ Melbourne, Sir Peter MacCallum Dept Oncol, Melbourne, Vic, Australia [ 198 ] Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Womens Canc Program, Los Angeles, CA 90048 USA [ 199 ] Univ Hawaii, Ctr Canc, Honolulu, HI 96822 USA [ 200 ] Dalhousie Univ, Dept Obstet Gynaecol & Pediat, Halifax, NS, Canada [ 201 ] Univ Western Australia, Ctr Genet Origins Hlth & Dis, Perth, WA 6009, Australia [ 202 ] Brigham & Womens Hosp, Dept Med, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA [ 203 ] Harvard Univ, Sch Med, Boston, MA USA [ 204 ] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA [ 205 ] Harvard Univ, Sch Publ Hlth, Program Genet Epidemiol & Stat Genet, 665 Huntington Ave, Boston, MA 02115 USA [ 206 ] Univ Cambridge, Dept Publ Hlth & Primary Care, Clin Gerontol, Cambridge, England
Subjects: 0301 basic medicine, Genes, BRCA2, Estrogen receptor, MODIFIERS, Gene Expression, Genome-wide association study, Cell Cycle Proteins, DISEASE, Breast cancer, Risk Factors, Brjóstakrabbamein, BRCA2 MUTATION CARRIERS, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], SUSCEPTIBILITY LOCUS, MAMMOGRAPHIC DENSITY, Regulation of gene expression, Genetics, Research Support, Non-U.S. Gov't, Estrogen Receptor alpha/genetics, Phenotype, 3. Good health, Gene Expression Regulation, Neoplastic, Medical genetics, Chromosomes, Human, Pair 6, Female, BONE-MINERAL DENSITY, NAF12, Protein Binding, EXPRESSION, medicine.medical_specialty, Locus (genetics), Breast Neoplasms, Estrògens, Biology, Breast Neoplasms/genetics, Polymorphism, Single Nucleotide, Article, Càncer de mama, 03 medical and health sciences, Research Support, N.I.H., Extramural, SDG 3 - Good Health and Well-being, REVEALS, medicine, Journal Article, cancer, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, METAANALYSIS, breast, Genetic Association Studies, Base Sequence, Estrogen Receptor alpha, Genetic Variation, Arfgengi, medicine.disease, Estrogen, 030104 developmental biology, breast cancer, BRCA1, BRCA2, Carrier Proteins, Estrogen receptor alpha, Research Support, U.S. Gov't, Non-P.H.S, Meta-Analysis
Abstract: To access publisher's full text version of this article click on the hyperlink at the bottom of the page We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression. National Institute for Health Research (NIHR) info:eu-repo/grantAgreement/EC/FP7/223175 Cancer Research UK C1287/A10118 C1287/A10710 C12292/A11174 C1281/A12014 C5047/A8384 C5047/A15007 C5047/A10692 C8197/A16565 US National Institutes of Health (NIH) CA128978 CA192393 CA116167 CA176785 US National Institutes of Health (NIH Specialized Program of Research Excellence (SPORE) in Breast Cancer) CA116201 Post-Cancer GWAS initiative 1U19 CA148537 1U19 CA148065 1U19 CA148112 Post-Cancer GWAS initiative (GAME-ON initiative) US Department of Defense W81XWH-10-1-0341 Canadian Institutes of Health Research (CIHR) Komen Foundation for the Cure Breast Cancer Research Foundation Ovarian Cancer Research Fund
Published: 2016
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40. Mammographic density and risk of breast cancer by mode of detection and tumor size: a case-control study

Author: Jennifer Stone, Dallas R. English, Kavitha Krishnan, Melissa C. Southey, John L. Hopper, Graham G. Giles, Laura Baglietto, and Carmel Apicella
Subjects: Oncology, Adult, Risk, Cancer Research, medicine.medical_specialty, Breast Neoplasms, Logistic regression, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Risk Factors, Internal medicine, Inherent risk, medicine, Mammography, Humans, 030212 general & internal medicine, Mammographic density, Early Detection of Cancer, Aged, Breast Density, 2. Zero hunger, Medicine(all), medicine.diagnostic_test, Receiver operating characteristic, business.industry, Incidence, Cancer, Middle Aged, Tumor size, medicine.disease, Detection mode, Confidence interval, 3. Good health, Tumor Burden, 030220 oncology & carcinogenesis, Case-Control Studies, Female, business, Body mass index, Research Article
Abstract: Background Risk of screen-detected breast cancer mostly reflects inherent risk, while risk of interval cancer reflects inherent risk and risk of masking (risk of the tumor not being detected due to increased dense tissue). Therefore the predictors of whether a breast cancer is interval or screen-detected include those that predict masking. Our aim was to investigate the associations between mammographic measures and (1) inherent risk, and (2) masking. Methods We conducted a case-control study nested within the Melbourne collaborative cohort study of 244 screen-detected cases (192 small tumors (
Published: 2016

41. Mammographic Breast Density and Breast Cancer: Evidence of a Shared Genetic Basis

Author: Jean Leyland, Nazneen Rahman, Louise Eriksson, Rulla M. Tamimi, Nicholas J. Wareham, Celine M. Vachon, Lisa J. Martin, Melissa C. Southey, Jennifer Stone, Sara Lindström, Fergus J. Couch, Deborah J. Thompson, Johanna M. Rommens, Andrew D. Paterson, Ruth J. F. Loos, Per Hall, Douglas F. Easton, Norman F. Boyd, Jajini Varghese, Kamila Czene, Clare Turnbull, Jingmei Li, Carmel Apicella, Ruth Warren, Kyriaki Michailidou, Christopher G. Scott, John L. Hopper, Robert Luben, Elizabeth J. Atkinson, and Judith E. Brown
Subjects: Risk, Oncology, Cancer Research, medicine.medical_specialty, Breast Neoplasms, Genome-wide association study, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Gene Frequency, Internal medicine, Genetic predisposition, Humans, Medicine, Mammography, Genetic Predisposition to Disease, Risk factor, 030304 developmental biology, Genetics, 0303 health sciences, Framingham Risk Score, medicine.diagnostic_test, business.industry, Case-control study, medicine.disease, United Kingdom, 3. Good health, Postmenopause, Case-Control Studies, 030220 oncology & carcinogenesis, Female, business, Genome-Wide Association Study
Abstract: Percent mammographic breast density (PMD) is a strong heritable risk factor for breast cancer. However, the pathways through which this risk is mediated are still unclear. To explore whether PMD and breast cancer have a shared genetic basis, we identified genetic variants most strongly associated with PMD in a published meta-analysis of five genome-wide association studies (GWAS) and used these to construct risk scores for 3,628 breast cancer cases and 5,190 controls from the UK2 GWAS of breast cancer. The signed per-allele effect estimates of single-nucleotide polymorphisms (SNP) were multiplied with the respective allele counts in the individual and summed over all SNPs to derive the risk score for an individual. These scores were included as the exposure variable in a logistic regression model with breast cancer case–control status as the outcome. This analysis was repeated using 10 different cutoff points for the most significant density SNPs (1%–10% representing 5,222–50,899 SNPs). Permutation analysis was also conducted across all 10 cutoff points. The association between risk score and breast cancer was significant for all cutoff points from 3% to 10% of top density SNPs, being most significant for the 6% (2-sided P = 0.002) to 10% (P = 0.001) cutoff points (overall permutation P = 0.003). Women in the top 10% of the risk score distribution had a 31% increased risk of breast cancer [OR = 1.31; 95% confidence interval (CI), 1.08–1.59] compared with women in the bottom 10%. Together, our results show that PMD and breast cancer have a shared genetic basis that is mediated through a large number of common variants. Cancer Res; 72(6); 1478–84. ©2012 AACR.
Published: 2012
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42. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

Author: Curtis Olswold, Daniel I. Chasman, Brian E. Henderson, Peter Lichtner, Jennifer Stone, Rita K. Schmutzler, Julian Peto, Sandra L. Deming, Fredrick R. Schumacher, William J. Tapper, Gary K. Chen, Constance Chen, Kim Overvad, Diana Eccles, Nicholas G. Martin, Elio Riboli, Celine M. Vachon, Daniel J. Park, Robert C. Millikan, Timothy G. Lesnick, Matthias W. Beckmann, Gerhard A. Coetzee, Gianluca Severi, Domenico Palli, Clare Turnbull, Jenny Chang-Claude, Montserrat Garcia-Closas, Douglas F. Easton, Carla H. van Gils, Christine B. Ambrosone, Zhaoming Wang, Françoise Clavel-Chapelon, Michael F. Press, Dieter Flesch-Janys, Astrid Irwanto, Claudine Isaacs, Paul M. Ridker, Esther M. John, Wei Zheng, Nazneen Rahman, Peter Kraft, David Van Den Berg, Elisa V. Bandera, André G. Uitterlinden, Susan E. Hankinson, Loic Le Marchand, Sue A. Ingles, Arif B. Ekici, Laurence N. Kolonel, Penelope Miron, Alfons Meindl, Quinten Waisfisz, Eric A. Ross, Jianjun Liu, S Gerty, Kristen N. Stevens, Melissa C. Southey, Adam M. Lee, Daniele Campa, Kyriaki Michailidou, Regina G. Ziegler, Robert N. Hoover, Quang M. Bui, Jennifer J. Hu, Laura Baglietto, Per Hall, Mia M. Gaudet, Alison M. Dunning, Julie E. Buring, Paul D.P. Pharoah, Jorge L. Rodriguez-Gil, Jonine D. Figueroa, Afshan Siddiq, Eiliv Lund, Arndt Hartmann, Fergus J. Couch, Sarah J. Nyante, Peter A. Fasching, Louise A. Brinton, Daniel F. Schmidt, Sara Lindström, Julie R. Palmer, Graham G. Giles, Olivia Fletcher, Rebecca Hein, Lynne R. Wilkens, Carmel Apicella, Christine D. Berg, Saundra S. Buys, Angela Cox, Kevin B. Jacobs, Heather Spencer Feigelson, Fernando Rivadeneira, W. Ryan Diver, Heli Nevanlinna, Isabel dos Santos Silva, Christina Justenhoven, Hanne Meijers-Heijboer, JoEllen Weaver, Stefan Nickels, Daniel O. Stram, Pilar Amiano, Carl Blomqvist, Lorraine Durcan, Jane Carpenter, Kamila Czene, John L. Hopper, Robert B. Diasio, Rudolf Kaaks, Nikki Graham, Grant W. Montgomery, Enes Makalic, Kristine R. Monroe, Lars Beckmann, Malin Sund, Christopher A. Haiman, Scott Huntsman, Stephen J. Chanock, Xianshu Wang, Catriona McLean, Susan L. Slager, David J. Hunter, Kristiina Aittomäki, Hans-Peter Sinn, Harsh B. Pathak, Elad Ziv, Mark Lathrop, Bertram Müller-Myhsok, Leslie Bernstein, I-Min Lee, Simon S. Cross, Ruth C. Travis, Suhn K. Rhie, Hiltrud Brauch, Rüdiger Schulz-Wendtland, Michael J. Thun, Dario Greco, Judith Heinz, Andrew K. Godwin, Laura Fejerman, Cancer Center Amsterdam, Amsterdam Reproduction & Development (AR&D), Human Genetics, Internal Medicine, Human genetics, and CCA - Oncogenesis
Subjects: Oncology, genetic association, Hispanic, Estrogen receptor, Genome-wide association study, Bioinformatics, genetic risk, Prostate cancer, 0302 clinical medicine, Japan, single nucleotide polymorphism, Genotype, genetic variability, African American, Genetics (clinical), Triple-negative breast cancer, 0303 health sciences, education.field_of_study, Association Studies Articles, article, General Medicine, prostate cancer, 3. Good health, Europe, female, Receptors, Estrogen, priority journal, 030220 oncology & carcinogenesis, chromosome 20q, medicine.medical_specialty, gene locus, Population, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Breast cancer, breast cancer, SDG 3 - Good Health and Well-being, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, controlled study, human, education, Molecular Biology, chromosome 6q, computer model, gene replication, genetic susceptibility, major clinical study, triple negative breast cancer, 030304 developmental biology, medicine.disease, Genome-Wide Association Study
Abstract: Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ≤ 1 × 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10(-8)) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10(-6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10(-9)), and with both ER-positive (OR = 1.09; P = 1.5 × 10(-5)) and ER-negative (OR = 1.16, P = 2.5 × 10(-7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.
Published: 2012
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43. 19p13.1 Is a Triple-Negative-Specific Breast Cancer Susceptibility Locus

Author: Linde M. Braaf, Andreas Schneeweiss, Alexandra V. Stavropoulou, Elinor J. Sawyer, Christoph Engel, Pascal Guénel, Hans Ulrich Ulmer, Efraim H. Rosenberg, Mervi Grip, Hans-Peter Sinn, Chen-Yang Shen, Daniel J. Park, Monica Barile, Annie Perkins, Xianshu Wang, Susan L. Slager, Leslie Bernstein, José Ignacio Arias Peŕez, Puttisak Puttawibul, Gianluca Severi, Helen Gogas, Diana Eccles, Sara Margolin, Michael J. Kerin, Carl Blomqvist, Irene L. Andrulis, Minouk J. Schoemaker, Dario Greco, Javier Benitez, Matthias W. Beckmann, Maria Pilar Zamora, Qin Wang, Diether Lambrechts, Hoda Anton-Culver, Foluso O. Ademuyiwa, Veli-Matti Kosma, Mark E. Sherman, Anne Sophie Dieudonne, F Marmé, Helena Hwang, Peter Devilee, Shan Wang-Gohrke, Alina Vrieling, Melissa C. Southey, Annika Lindblom, Paolo Radice, Penelope Miron, Theŕeśe Truong, Per Hall, Douglas F. Easton, Siranoush Manoukian, Drakoulis Yannoukakos, Rita K. Schmutzler, Vessela N. Kristensen, Julian Peto, Jonathan Beesley, Arndt Hartmann, Priyanka Sharma, Alison M. Dunning, Paolo Peterlongo, Christine B. Ambrosone, Henrik Flyger, Nichola Johnson, Jonine D. Figueroa, Barbara Burwinkel, Kenneth Muir, Roger L. Milne, Sigrid Hatse, Julia A. Knight, Ylermi Soini, Alan Ashworth, Artitaya Lophatananon, Robert Winqvist, Alfons Meindl, Thomas Rüdiger, George Fountzilas, Annegien Broeks, Simon S. Cross, Rob A. E. M. Tollenaar, Paul D.P. Pharoah, Alexander Miron, Montserrat Garcia-Closas, Laura Baglietto, Matthew L. Kosel, Arif B. Ekici, Heiko Müller, Jyh Cherng Yu, Grethe Grenaker Alnsæ, Argyrios Ziogas, Thomas Dünnebier, Ian Tomlinson, Anna Marie Mulligan, Ruth Swann, Chia-Ni Hsiung, Sarah Schott, Christina Clarke Dur, Catriona McLean, Georgia Chenevix-Trench, Caroline Seynaeve, Hiltrud Brauch, Orr Nicholas, Carmel Apicella, Vernon S. Pankratz, Olivia Fletcher, Surapon Wiangnon, Arja Jukkola-Vuorinen, Anne Lise Brøresen-Dale, Dieter Flesch-Janys, Fergus J. Couch, Peter A. Fasching, Brøge G. Nordestgaard, Kristiina Aittomäki, Marie Rose Christiaens, Jaana M. Hartikainen, Manjeet K. Humphreys, Ute Hamann, Marjanka K. Schmidt, Isabel dos Santos Silva, Harsh B. Pathak, Janet E. Olson, Jenny Chang-Claude, Graham G. Giles, Miriam Dwek, Stig E. Bojesen, Florence Menegaux, Christa Stegmaier, Katri Pylkäs, Huan Ming Hsu, Sune F. Nielsen, Christof Sohn, Kamila Czene, Claus R. Bartram, Jo Ellen Weaver, John L. Hopper, Xiaoqing Chen, Emilie Cordina-Duverger, Stefan Nickels, Esther M. John, Heli Nevanlinna, Jolanta Lissowska, Zachary S. Fredericksen, Angela Cox, Maartje J. Hooning, Volker Arndt, MW Reed, Celine M. Vachon, Yon Ko, Anthony J. Swerdlow, Gord Glendon, Hans Fischer, Arto Mannermaa, Kristen N. Stevens, Hermann Brenner, Andrew K. Godwin, Clinical Genetics, and Medical Oncology
Subjects: Oncology, Cancer Research, Receptor, ErbB-2, population, Estrogen receptor, consortium, Genome-wide association study, brca1, ErbB-2, 0302 clinical medicine, common variants, Receptors, risk-factors, skin and connective tissue diseases, Progesterone, Triple-negative breast cancer, 0303 health sciences, education.field_of_study, Chromosome Mapping, 3. Good health, Receptors, Estrogen, 030220 oncology & carcinogenesis, Female, Receptors, Progesterone, complex, Receptor, Human, Risk, medicine.medical_specialty, Population, Breast Neoplasms, Genetic Loci, Humans, Chromosomes, Human, Pair 19, Genetic Predisposition to Disease, Biology, Article, Chromosomes, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Internal medicine, Progesterone receptor, medicine, Genetic predisposition, education, 030304 developmental biology, Gynecology, Pair 19, tumor subtypes, confer susceptibility, medicine.disease, Estrogen, 14q24.1 rad51l1, genome-wide association, Ovarian cancer
Abstract: The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with the risk of ovarian cancer. Here, we investigated 19p13.1 variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05–1.15; P = 3.49 × 10−5] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13–1.31; P = 2.22 × 10−7). However, rs8170 was no longer associated with ER-negative breast cancer risk when triple-negative cases were excluded (OR, 0.98; 95% CI, 0.89–1.07; P = 0.62). In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18–1.33; P = 3.31 × 10−13]. Thus, 19p13.1 is the first triple-negative–specific breast cancer risk locus and the first locus specific to a histologic subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple-negative tumors and other subtypes likely arise through distinct etiologic pathways. Cancer Res; 72(7); 1795–803. ©2012 AACR.
Published: 2012
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44. Breast Cancer Prognosis in BRCA1 and BRCA2 Mutation Carriers: An International Prospective Breast Cancer Family Registry Population-Based Cohort Study

Author: Irene L. Andrulis, Pamela J. Goodwin, Marguerite Ennis, Graham G. Giles, John L. Hopper, Esther M. John, Carmel Apicella, Roger L. Milne, Michael Friedlander, Teri A. Longacre, Dee W. West, Melissa C. Southey, Kelly-Anne Phillips, and Frances P. O'Malley
Subjects: Adult, Oncology, Canada, Heterozygote, Cancer Research, medicine.medical_specialty, International Cooperation, Genes, BRCA2, Population, Genes, BRCA1, Breast Neoplasms, Kaplan-Meier Estimate, BRCA2 Mutation, Germline mutation, Breast cancer, Predictive Value of Tests, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Prospective Studies, Registries, skin and connective tissue diseases, education, Prospective cohort study, Germ-Line Mutation, Aged, Gynecology, education.field_of_study, business.industry, Hazard ratio, Australia, Middle Aged, Prognosis, medicine.disease, United States, Jews, Predictive value of tests, Female, business, Cohort study
Abstract: Purpose To compare breast cancer prognosis in BRCA1 and BRCA2 mutation carriers with that in patients with sporadic disease. Patients and Methods An international population-based cohort study was conducted in Canada, the United States, and Australia of 3,220 women with incident breast cancer diagnosed between 1995 and 2000 and observed prospectively. Ninety-three had BRCA1 mutations; 71, BRCA2 mutations; one, both mutations; 1,550, sporadic breast cancer; and 1,505, familial breast cancer (without known BRCA1 or BRCA2 mutation). Distant recurrence and death were analyzed. Results Mean age at diagnosis was 45.3 years; mean follow-up was 7.9 years. Risks of distant recurrence and death did not differ significantly between BRCA1 mutation carriers and those with sporadic disease in univariable and multivariable analyses. Risk of distant recurrence was higher for BRCA2 mutation carriers compared with those with sporadic disease in univariable analysis (hazard ratio [HR], 1.63; 95% CI, 1.02 to 2.60; P = .04). Risk of death was also higher in BRCA2 carriers in univariable analysis (HR, 1.81; 95% CI, 1.15 to 2.86; P = .01). After adjustment for age, tumor stage and grade, nodal status, hormone receptors, and year of diagnosis, no differences were observed for distant recurrence (HR, 1.00; 95% CI, 0.62 to 1.61; P = 1.00) or death (HR, 1.12; 95% CI, 0.70 to 1.79; P = .64). Conclusion Outcomes of BRCA1 mutation carriers were similar to those of patients with sporadic breast cancer. Worse outcomes in BRCA2 mutation carriers in univariable analysis seem to reflect the presence of more adverse tumor characteristics in these carriers. Similar outcomes were identified in BRCA2 carriers and those with sporadic disease in multivariable analyses.
Published: 2012
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45. The association between mammographic density measures and aspirin or other NSAID use

Author: Susan A. Treloar, Lisa Willenberg, Carmel Apicella, Jennifer Stone, and John L. Hopper
Subjects: Adult, Oncology, Cancer Research, medicine.medical_specialty, Endometriosis, Arthritis, Breast Neoplasms, Breast cancer, Risk Factors, Internal medicine, medicine, Humans, Risk factor, Mammary Glands, Human, skin and connective tissue diseases, Aged, Aspirin, business.industry, Anti-Inflammatory Agents, Non-Steroidal, MAMMOGRAPHIC DENSITY, Middle Aged, medicine.disease, Acetaminophen, Cross-Sectional Studies, Linear Models, Female, business, Mammography, medicine.drug
Abstract: There is evidence that aspirin use reduces the risk of breast cancer. Increased mammographic density is known to be associated with increased breast cancer risk. Little is known about the association between mammographic density and aspirin or other non-steroidal anti-inflammatory drug (NSAID) use, but it is possible that the association between aspirin use and breast cancer risk might be due to the effect of aspirin on mammographic density. Multiple linear regression was used to investigate the association between measures of mammographic density and the use, frequency, and duration of aspirin and other NSAIDs such as paracetamol (acetaminophen), arthritis medication, and other over-the-counter or doctor-prescribed pain medications in 3286 women from the Australian Mammographic Density Twins and Sisters Study and the Genes Behind Endometriosis Study. We found no association between either dense area or percent dense area with any of the NSAIDs examined (all P > 0.06). If aspirin is reducing the breast cancer risk in women, it is likely doing so via a different pathway other than mammographic density measures that predict breast cancer risk.
Published: 2011
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46. 7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium

Author: Argyrios Ziogas, Alfons Meindl, Jonathan Beesley, Jianjun Liu, Georgia Chenevix-Trench, Caroline Seynaeve, Laura Baglietto, Malcolm W.R. Reed, Angela Cox, Kamila Czene, Douglas F. Easton, Arif B. Ekici, Kristiina Aittomäki, Chen-Yang Shen, John L. Hopper, Peter A. Fasching, Lorna Gibson, Núria Malats, Stig E. Bojesen, Astrid K. Irwanto, Tuomas Heikkinen, Peter Devilee, Heli Nevanlinna, Ian W. Brock, Xiaoqing Chen, Jolanta Lissowska, Ruediger Schulz-Wendtland, Henrik Flyger, Montserrat Garcia-Closas, Xianshu Wang, Justo Lorenzo-Bermejo, Jenny Chang-Claude, Zachary S. Fredericksen, Jyh Cherng Yu, Julian Peto, Børge G. Nordestgaard, Sara Margolin, Annika Lindblom, Arto Mannermaa, Letitia D. Smith, Barbara Burwinkel, Matthias W. Beckmann, Beate Pesch, Joerg Heil, José Ignacio Arias, Fergus J. Couch, Rebecca Hein, Dong Young Noh, Olivia Fletcher, Stephen J. Chanock, Ute Hamann, Graeme Elliott, Per Hall, Vesa Kataja, Pei Ei Wu, Keun-Young Yoo, Daehee Kang, Karen A. Pooley, Yon Ko, Carl Blomqvist, Dallas R. English, Mark E. Sherman, Graham G. Giles, Alina Vrieling, Roger L. Milne, Rob A. E. M. Tollenaar, Shan Wang-Gohrke, Gianluca Severi, Alison M. Dunning, Carmel Apicella, Javier Benitez, Hoda Anton-Culver, Veli-Matti Kosma, Christie J. van Asperen, Isabel dos Santos Silva, Janet E. Olson, Dieter Flesch-Janys, Bernd Frank, Melissa C. Southey, Paul D.P. Pharoah, Huan Ming Hsu, M. Pilar Zamora, Manjeet K. Humphreys, Medical Oncology, and Hematology
Subjects: Oncology, A Kinase Anchor Proteins, Logistic regression, Medical and Health Sciences, 0302 clinical medicine, Medizinische Fakultät, Risk Factors, Epidemiology, Odds Ratio, Genetics (clinical), Genetics & Heredity, Genetics, 0303 health sciences, Single Nucleotide, AOCS Group, Biological Sciences, Control subjects, 3. Good health, 030220 oncology & carcinogenesis, Pair 7, Female, GENICA Network, Chromosomes, Human, Pair 7, Human, Asian Continental Ancestry Group, medicine.medical_specialty, Alleles, Breast Neoplasms, Case-Control Studies, Cytoskeletal Proteins, European Continental Ancestry Group, Genes, Recessive, Genetic Predisposition to Disease, Humans, Logistic Models, Polymorphism, Single Nucleotide, Single-nucleotide polymorphism, Biology, Chromosomes, Article, White People, 03 medical and health sciences, Breast cancer, Asian People, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Recessive, ddc:610, Polymorphism, Allele, 030304 developmental biology, Case-control study, Odds ratio, medicine.disease, Genes
Abstract: Background: Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case–control studies. Methods: The authors genotyped 14 843 invasive case patients and 19 852 control subjects with white European ancestry and 2595 invasive case patients and 2192 control subjects with Asian ancestry. ORs were estimated by logistic regression, adjusted for study. Heterogeneity in ORs was assessed by fitting interaction terms or by subclassifying case patients and applying polytomous logistic regression. Results: For white European women, the minor T allele of 7q21-rs6964587 was associated with breast cancer risk under a recessive model (OR 1.07, 95% CI 1.00 to 1.13, p=0.04). Results were inconclusive for Asian women. From a combined analysis of 24 154 case patients and 33 376 control subjects of white European ancestry from the present and previous series, the best-fitting model was recessive, with an estimated OR of 1.08 (95% CI 1.03 to 1.13, p=0.001). The OR was greater at younger ages (p trend=0.01). Conclusion: This may be the first common susceptibility allele for breast cancer to be identified with a recessive mode of inheritance.
Published: 2011
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47. Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

Author: Peter Hillemanns, Mark E. Robson, Roger L. Milne, Amanda B. Spurdle, Rob A. E. M. Tollenaar, Federik Marme, Michael Bremer, Jan Lubinski, Linda Titus-Ernstoff, Kamila Czene, Stephen J. Chanock, Mervi Grip, Graham G. Giles, Penny Webb, G. Chenevix-Trench, Natalia Bogdanova, John L. Hopper, Frances P. O'Malley, Arto Mannermaa, Mark E. Sherman, Chen-Yang Shen, Suleeporn Sangrajrang, Julian Peto, Irene L. Andrulis, Yuri I. Rogov, Annika Lindblom, Børge G. Nordestgaard, James McKay, Barbara Burwinkel, M. Pilar Zamora, José Ignacio Arias, Beate Pesch, Vijai Joseph, Shamil Hanafievich Gantcev, Fergus J. Couch, Dong Young Noh, Betül T. Yesilyurt, Jenny Chang-Claude, Ute Hamann, Vesa Kataja, Sara Margolin, Thilo Dörk, Katarzyna Jaworska, Yon Ko, Nichola Johnson, Hiltrud Brauch, Matthias W. Beckmann, Heli Nevanlinna, Malcolm W.R. Reed, Melissa C. Southey, Arif B. Ekici, Jolanta Lissowska, Isabel dos Santos Silva, Johann H. Karstens, Robert Winqvist, Shian Ling Ding, Stig E. Bojesen, Ian Tomlinson, Anna Marie Mulligan, Montserrat Garcia-Closas, Volker Harth, Katarzyna Durda, Valerie Gaborieau, Tuomas Heikkinen, Thomas Brüning, Mia M. Gaudet, Monica Barile, Sylvia Rabstein, Christina Justenhoven, Anna Jakubowska, Paul D.P. Pharoah, Jonathan Beesley, Hermann Brenner, Elza Khusnutdinova, Heiko Müller, Jyh Cherng Yu, Adam M. Lee, Paolo Peterlongo, Clare Turnbull, Doug Easton, Radka Platte, Keun-Young Yoo, J. Margriet Collée, Paolo Radice, Laura Baglietto, Sei Hyun Ahn, Paul Brennan, Olivia Fletcher, Fleur Hammet, Ans M.W. van den Ouweland, Catriona Maclean, Carl Blomqvist, Sheila Seal, Peter Schürmann, Natalia Antonenkova, Katri Pylkäs, Angela Cox, Kenneth Offit, Huan Ming Hsu, Arja Jukkola-Vuorinen, Maartje J. Hooning, Peter A. Fasching, Alison M. Dunning, Nick Orr, Volker Arndt, Javier Benitez, Diether Lambrechts, Robert B. Diasio, Manjeet K. Humphreys, Ian W. Brock, Marjanka K. Schmidt, Per Hall, Hoda Anton-Culver, Anthony J. Swerdlow, Jonine D. Figueroa, Julia A. Knight, Ylermi Soini, Alan Ashworth, Veli-Matti Kosma, Anna deFazio, Reiner Strick, Darya Prokofieva, Shan Wang-Gohrke, Polly A. Newcomb, Dorota M. Gertig, Henrik Flyger, David D.L. Bowtell, Laura J. van't Veer, John W.M. Martens, Carmel Apicella, Anthony Renwick, Andreas Schneeweiss, Michael J. Kerin, Christian Baisch, Xianshu Wang, Kathleen Egan, Argyrios Ziogas, A. Green, Marina Bermisheva, Christof Sohn, Stéphanie Peeters, Daehee Kang, Rebecca Hein, Nazneen Rahman, Annegien Broeks, Georgia Chenevix-Trench, Elinor J. Sawyer, Louise A. Brinton, Michael Jones, Xiaoqing Chen, Kristiina Aittomäki, Esther M. John, Siranoush Manoukian, Hand Peter Fischer, Amy Trentham-Dietz, Simon S. Cross, Marie Rose Chrisiaens, Gianluca Severi, Medical Oncology, and Clinical Genetics
Subjects: Oncology, Receptor, ErbB-2, 6q25.1, Estrogen receptor, Genome-wide association study, Alleles, Breast Neoplasms, Case-Control Studies, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 14, Confidence Intervals, DNA-Binding Proteins, Female, Genetic Heterogeneity, Genetic Predisposition to Disease, Humans, Odds Ratio, Polymorphism, Single Nucleotide, Receptors, Estrogen, Receptors, Progesterone, Risk Factors, Genome-Wide Association Study, Molecular Biology, Genetics, Genetics (clinical), brca1, 0302 clinical medicine, ErbB-2, Receptors, glucose, mutation carriers, Progesterone, 0303 health sciences, Association Studies Articles, General Medicine, Single Nucleotide, 3. Good health, 030220 oncology & carcinogenesis, Pair 1, metaanalysis, Human, Receptor, medicine.medical_specialty, Single-nucleotide polymorphism, Biology, Chromosomes, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Internal medicine, medicine, SNP, Polymorphism, 030304 developmental biology, Genetic heterogeneity, Pair 14, Case-control study, Odds ratio, confer susceptibility, medicine.disease, Estrogen, susceptibility loci, Immunology, genome-wide association, polymorphisms
Abstract: A genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) at 1p11.2 and 14q24.1 (RAD51L1) as breast cancer susceptibility loci. The initial GWAS suggested stronger effects for both loci for estrogen receptor (ER)-positive tumors. Using data from the Breast Cancer Association Consortium (BCAC), we sought to determine whether risks differ by ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), grade, node status, tumor size, and ductal or lobular morphology. We genotyped rs11249433 at 1p.11.2, and two highly correlated SNPs rs999737 and rs10483813 (r(2) = 0.98) at 14q24.1 (RAD51L1), for up to 46 036 invasive breast cancer cases and 46 930 controls from 39 studies. Analyses by tumor characteristics focused on subjects reporting to be white women of European ancestry and were based on 25 458 cases, of which 87% had ER data. The SNP at 1p11.2 showed significantly stronger associations with ER-positive tumors [per-allele odds ratio (OR) for ER-positive tumors was 1.13, 95% CI = 1.10-1.16 and, for ER-negative tumors, OR was 1.03, 95% CI = 0.98-1.07, case-only P-heterogeneity = 7.6 x 10 25]. The association with ER-positive tumors was stronger for tumors of lower grade (case-only P = 6.7 x 10 23) and lobular histology (case-only P = 0.01). SNPs at 14q24.1 were associated with risk for most tumor subtypes evaluated, including triple-negative breast cancers, which has not been described previously. Our results underscore the need for large pooling efforts with tumor pathology data to help refine risk estimates for SNP associations with susceptibility to different subtypes of breast cancer.
Published: 2011
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48. Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies

Author: Gillian S. Dite, Brian E. Henderson, U Hamann, Rulla M. Tamimi, Agnes Jager, Laurence N. Kolonel, J Heinz, Hans Wildiers, Celine M. Vachon, Päivi Heikkilä, Chen-Yang Shen, Laura J. Van 'T Veer, Pasi Hirvikoski, Suleeporn Sangrajrang, James McKay, Päivi Auvinen, Michael Bremer, Ann Smeets, Kamila Czene, William J. Tapper, Peter Hillemanns, Fergus J. Couch, John L. Hopper, Douglas F. Easton, Jose Ignacio Arias Perez, Roger L. Milne, Helen Tsimiklis, Carmel Apicella, Antoinette Hollestelle, Zachary S. Fredericksen, Argyrios Ziogas, Helen Cramp, Melissa C. Southey, Malcolm W.R. Reed, Tjoung Won Park-Simon, Janet E. Olson, Primitiva Menéndez Rodríguez, Robert Winqvist, Fabrice Odefrey, Bohdan Górski, Caroline Seynaeve, Matthew L. Kosel, Valerie Gaborieau, Mia M. Gaudet, Diether Lambrechts, Anna Jakubowska, Paul D.P. Pharoah, Fleur Hammet, Amanda B. Spurdle, Stig E. Bojesen, Thilo Dörk, Victoria Cafourek, Julia A. Knight, Frances P O'Malley, Daniel Connley, Letitia D. Smith, David L. Wachter, Flora E. van Leeuwen, David Dynnes Ørsted, Helene Holland, Sabapathy P. Balasubramanian, Aysun Ay, Tuomas Heikkinen, Jaana M. Kauppinen, Diljit Kaur-Knudsen, Børge G. Nordestgaard, Gord Glendon, Paul Brennan, Jacek Gronwald, Mervi Grip, Elinor J. Sawyer, Kristy Driver, Jan Lubinski, Hoda Anton-Culver, Louise A. Brinton, Veli-Matti Kosma, Mieke Kriege, P. E.A. Huijts, Irene L. Andrulis, P. Zamora, S. Chanock, Pei Ei Wu, Tomasz Byrski, Arja Jukkola-Vuorinen, Peter A. Fasching, Tomasz Huzarski, Hatef Darabi, Andreas Meyer, Raem Tollenaar, Fiona M. Blows, Ian Tomlinson, Xiaohong R. Yang, Dallas R. English, Diana Eccles, Ans M.W. van den Ouweland, Johann H. Karstens, Montserrat Garcia-Closas, Alina Vrieling, Graham G. Giles, Michael J. Kerin, Show Lin Yang, Nicola Miller, Sue Gerty, Thomas Brüning, Christopher A. Haiman, Kari Mononen, Loic Le Marchand, Jyh Cherng Yu, Anna Marie Mulligan, Jenny Chang-Claude, Christian R. Loehberg, Matthias W. Beckmann, Madeleine M.A. Tilanus-Linthorst, Angela Cox, Maartje J. Hooning, Susan E. Hankinson, Gianluca Severi, Angela M. Jones, Heli Nevanlinna, Caroline Weltens, Jolanta Lissowska, Hiltrud Brauch, Giu Cheng Hsu, Sebastian M. Jud, Per Hall, Hans Fischer, Arto Mannermaa, Christina Justenhoven, Laura Baglietto, Katri Pylkäs, Kristiina Aittomäki, Sara Margolin, T. Vandorpe, M. Barile, Ylermi Soini, Beate Pesch, Ellen L. Goode, Nayana Weerasooriya, Peter Devilee, Carl Blomqvist, Margriet Collée, Vesa Kataja, Arndt Hartmann, Manjeet K. Humphreys, Siranoush Manoukian, Annika Lindblom, Marjanka K. Schmidt, Yon Ko, Patrick Neven, Chia-Ni Hsiung, Xianshu Wang, Keith Humphreys, Dieter Flesch-Janys, Niall M. McInerney, Javier Benítez, Esther M. John, Jianjun Liu, Peter Sinn, Reijo Sironen, Annegien Broeks, Rebecca Hein, Shou Tung Chen, Paolo Radice, Simon S. Cross, Mark E. Sherman, Robert Paridaens, Shan Wang-Gohrke, Sebastian B. Weihbrecht, Jonine D. Figueroa, Catriona McLean, Georgia Chenevix-Trench, David J. Hunter, Henrik Flyger, Beata Peplonska, VU University medical center, EMGO - Quality of care, Virology, Medical Oncology, Clinical Genetics, Surgery, and University of Groningen
Subjects: Oncology, Cancer Research, Receptor, ErbB-2, Estrogen receptor, Body Mass Index, ErbB-2, 0302 clinical medicine, Risk Factors, Receptors, Odds Ratio, EPITHELIAL OVARIAN-CANCER, Progesterone, REPAIR GENES, 2. Zero hunger, 0303 health sciences, education.field_of_study, Tumor, Medicine (all), Age Factors, SINGLE-NUCLEOTIDE POLYMORPHISMS, Articles, 3. Good health, ErbB Receptors, Parity, ESTROGEN, Receptors, Estrogen, POSTMENOPAUSAL WOMEN, 030220 oncology & carcinogenesis, Female, Breast disease, Receptors, Progesterone, Receptor, Receptor, erbB-2, medicine.medical_specialty, SUSCEPTIBILITY LOCI, Oncology and Carcinogenesis, Population, Breast Neoplasms, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Internal medicine, Biomarkers, Tumor, medicine, Humans, Oncology & Carcinogenesis, Obesity, Risk factor, education, 030304 developmental biology, Menarche, HORMONE-RECEPTOR, DIFFERENT HISTOPATHOLOGIC TYPES, Epidermal Growth Factor, business.industry, Parturition, Case-control study, Case-Control Studies, Keratin-5, Logistic Models, Receptor, Epidermal Growth Factor, Cancer, Odds ratio, BASAL-LIKE SUBTYPE, medicine.disease, Endocrinology, PROGESTERONE-RECEPTOR STATUS, business, Biomarkers
Abstract: BACKGROUND: Previous studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progesterone receptor (PR) expression status of the tumors. METHODS: We pooled tumor marker and epidemiological risk factor data from 35,568 invasive breast cancer case patients from 34 studies participating in the Breast Cancer Association Consortium. Logistic regression models were used in case-case analyses to estimate associations between epidemiological risk factors and tumor subtypes, and case-control analyses to estimate associations between epidemiological risk factors and the risk of developing specific tumor subtypes in 12 population-based studies. All statistical tests were two-sided. RESULTS: In case-case analyses, of the epidemiological risk factors examined, early age at menarche (≤12 years) was less frequent in case patients with PR(-) than PR(+) tumors (P = .001). Nulliparity (P = 3 × 10(-6)) and increasing age at first birth (P = 2 × 10(-9)) were less frequent in ER(-) than in ER(+) tumors. Obesity (body mass index [BMI] ≥ 30 kg/m(2)) in younger women (≤50 years) was more frequent in ER(-)/PR(-) than in ER(+)/PR(+) tumors (P = 1 × 10(-7)), whereas obesity in older women (>50 years) was less frequent in PR(-) than in PR(+) tumors (P = 6 × 10(-4)). The triple-negative (ER(-)/PR(-)/HER2(-)) or core basal phenotype (CBP; triple-negative and cytokeratins [CK]5/6(+) and/or epidermal growth factor receptor [EGFR](+)) accounted for much of the heterogeneity in parity-related variables and BMI in younger women. Case-control analyses showed that nulliparity, increasing age at first birth, and obesity in younger women showed the expected associations with the risk of ER(+) or PR(+) tumors but not triple-negative (nulliparity vs parity, odds ratio [OR] = 0.94, 95% confidence interval [CI] = 0.75 to 1.19, P = .61; 5-year increase in age at first full-term birth, OR = 0.95, 95% CI = 0.86 to 1.05, P = .34; obesity in younger women, OR = 1.36, 95% CI = 0.95 to 1.94, P = .09) or CBP tumors. CONCLUSIONS: This study shows that reproductive factors and BMI are most clearly associated with hormone receptor-positive tumors and suggest that triple-negative or CBP tumors may have distinct etiology.
Published: 2010
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49. Prediagnosis Reproductive Factors and All-Cause Mortality for Women with Breast Cancer in the Breast Cancer Family Registry

Author: Roger L. Milne, Graham G. Giles, Jane C. Figueiredo, Theresa H.M. Keegan, Dee W. West, Gord Glendon, Carmel Apicella, John L. Hopper, Irene L. Andrulis, Ellen T. Chang, Melissa C. Southey, Michael Friedlander, Pamela J. Goodwin, Esther M. John, Kelly-Anne Phillips, and Frances P O'Malley
Subjects: Adult, medicine.medical_specialty, Epidemiology, Population, Breastfeeding, Breast Neoplasms, Article, Time, Breast cancer, Pregnancy, Risk Factors, medicine, Humans, Registries, education, Reproductive History, Aged, Gynecology, education.field_of_study, business.industry, Proportional hazards model, Obstetrics, Hazard ratio, Cancer, Middle Aged, Prognosis, medicine.disease, Oncology, Female, Breast disease, business
Abstract: Studies have examined the prognostic relevance of reproductive factors before breast cancer diagnosis, but most have been small and their overall findings inconclusive. Associations between reproductive risk factors and all-cause mortality after breast cancer diagnosis were assessed with the use of a population-based cohort of 3,107 women of White European ancestry with invasive breast cancer (1,130 from Melbourne and Sydney, Australia; 1,441 from Ontario, Canada; and 536 from Northern California, United States). During follow-up with a median of 8.5 years, 567 deaths occurred. At recruitment, questionnaire data were collected on oral contraceptive use, number of full-term pregnancies, age at first full-term pregnancy, time from last full-term pregnancy to breast cancer diagnosis, breastfeeding, age at menarche, and menopause and menopausal status at breast cancer diagnosis. Hazard ratios for all-cause mortality were estimated with the use of Cox proportional hazards models with and without adjustment for age at diagnosis, study center, education, and body mass index. Compared with nulliparous women, those who had a child up to 2 years, or between 2 and 5 years, before their breast cancer diagnosis were more likely to die. The unadjusted hazard ratio estimates were 2.75 [95% confidence interval (95% CI), 1.98-3.83; P < 0.001] and 2.20 (95% CI, 1.65-2.94; P < 0.001), respectively, and the adjusted estimates were 2.25 (95% CI, 1.59-3.18; P < 0.001) and 1.82 (95% CI, 1.35-2.46; P < 0.001), respectively. When evaluating the prognosis of women recently diagnosed with breast cancer, the time since last full-term pregnancy should be routinely considered along with other established host and tumor prognostic factors, but consideration of other reproductive factors may not be warranted. (Cancer Epidemiol Biomarkers Prev 2009;18(6):1792–7)
Published: 2009
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50. Measuring, and identifying predictors of, women's perceptions of three types of breast cancer risk: population risk, absolute risk and comparative risk

Author: Lesley Andrews, John L. Hopper, Mary B. Daly, Katherine L. Tucker, Carmel Apicella, and Stuart Peacock
Subjects: Adult, Risk, Cancer Research, medicine.medical_specialty, Population, Breast Neoplasms, Young Adult, breast cancer, Breast cancer, Surveys and Questionnaires, Clinical Studies, medicine, Humans, Family history, Risk factor, education, Aged, Gynecology, education.field_of_study, business.industry, Australia, Absolute risk reduction, Middle Aged, BRCA1, medicine.disease, perceived risk, BRCA2, Ashkenazi jews, Risk perception, Oncology, Ashkenazi, Jews, Women's Health, Female, Perception, Population Risk, business, Attitude to Health, genetic counselling, Follow-Up Studies, Demography
Abstract: Although a key function of cancer genetics services is to provide risk information, to date there has been little consistency in the way in which breast cancer risk perception has been measured. The aims of the study were to measure estimates of (i) population risk, (ii) absolute risk and (iii) comparative risk of developing breast cancer for Ashkenazi Jewish women, and to determine predictors of breast cancer risk perception. Of 152 women, 107 (70%) completed all questions. The mean (s.d.) estimates for population risk, absolute risk and comparative risk were 22.7% (15.9), 31.8% (20.6) and 1.9-fold (1.9), respectively. Most women overestimated population risk. Women at population risk generally overestimated the population risk and their own absolute risk, yet understood they are at the same risk as the population. Those with a family history understood that they are at increased risk, but underestimated the extent to which their familial risk is increased. Anxiety, high estimation of population risk and lesser family history predicted overestimation of absolute risk, whereas high estimation of population risk and a strong family history predicted underestimation of comparative risk.
Published: 2009
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