Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast
Publication Date
April 17, 2014
Journal
PLOS Genetics
Authors
Elinor Sawyer, Rebecca Roylance, Christos Petridis, Mark N. Brook, et al
Volume
10
Issue
4
Pages
e1004285
DOI
https://dx.plos.org/10.1371/journal.pgen.1004285
Publisher URL
http://journals.plos.org/plosgenetics/article?id=10.1371%2Fjournal.pgen.1004285
PubMed
http://www.ncbi.nlm.nih.gov/pubmed/24743323
PubMed Central
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990493
Europe PMC
http://europepmc.org/abstract/MED/24743323
Web of Science
000335499600037
Scopus
84901352347
Mendeley
http://www.mendeley.com/research/genetic-predisposition-situ-invasive-lobular-carcinoma-breast
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{"first_name"=>"Guillermo", "last_name"=>"Pita", "scopus_author_id"=>"57191493187"}, {"first_name"=>"M. Rosario", "last_name"=>"Alonso", "scopus_author_id"=>"35197824300"}, {"first_name"=>"Daniel C.", "last_name"=>"Tessier", "scopus_author_id"=>"56350916600"}, {"first_name"=>"Daniel", "last_name"=>"Vincent", "scopus_author_id"=>"35075245300"}, {"first_name"=>"Francois", "last_name"=>"Bacot", "scopus_author_id"=>"57200604387"}, {"first_name"=>"Manjeet K.", "last_name"=>"Bolla", "scopus_author_id"=>"57194221288"}, {"first_name"=>"Qin", "last_name"=>"Wang", "scopus_author_id"=>"57199479840"}, {"first_name"=>"Joe", "last_name"=>"Dennis", "scopus_author_id"=>"57197867113"}, {"first_name"=>"Kyriaki", "last_name"=>"Michailidou", "scopus_author_id"=>"57194780971"}, {"first_name"=>"Alison M.", "last_name"=>"Dunning", "scopus_author_id"=>"26643422500"}, {"first_name"=>"Per", "last_name"=>"Hall", "scopus_author_id"=>"7403694791"}, {"first_name"=>"Doug", "last_name"=>"Easton", "scopus_author_id"=>"16471950000"}, {"first_name"=>"Paul", "last_name"=>"Pharoah", "scopus_author_id"=>"7102929844"}, {"first_name"=>"Marjanka K.", "last_name"=>"Schmidt", "scopus_author_id"=>"55312657600"}, {"first_name"=>"Ian", "last_name"=>"Tomlinson", "scopus_author_id"=>"7103338177"}, {"first_name"=>"Montserrat", "last_name"=>"Garcia-Closas", "scopus_author_id"=>"6603897426"}], "year"=>2014, "source"=>"PLoS Genetics", "identifiers"=>{"issn"=>"15537404", "scopus"=>"2-s2.0-84901352347", "sgr"=>"84901352347", "pui"=>"373162873", "isbn"=>"1553-7404 (Electronic)\\r1553-7390 (Linking)", "pmid"=>"24743323", "doi"=>"10.1371/journal.pgen.1004285"}, "id"=>"8ac1caf3-3aab-3679-823a-5c00d176608c", "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 x 10(-10); P-het for ILC vs IDC ER+ tumors = 1.8 x 10(-4)). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and 15 with LCIS at P<0.05. Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het = 0.04 and rs889312/5q11/MAP3K1, P-het = 0.03); and two showed stronger associations for LCIS than ILC (rs6678914/1q32/LGR6, P-het = 0.001 and rs1752911/6q14, P-het = 0.04). In addition, seven of the 75 known loci showed significant differences between ER+ tumors with IDC and ILC histology, three of these showing stronger associations for ILC (rs11249433/1p11, rs2981579/10q26/FGFR2 and rs10995190/10q21/ZNF365) and four associated only with IDC (5p12/rs10941679; rs2588809/14q24/RAD51L1, rs6472903/8q21 and rs1550623/2q31/CDCA7). In conclusion, we have identified one novel lobular breast cancer specific predisposition polymorphism at 7q34, and shown for the first time that common breast cancer polymorphisms predispose to LCIS. We have shown that many of the ER+ breast cancer predisposition loci also predispose to ILC, although there is some heterogeneity between ER+ lobular and ER+ IDC tumors. These data provide evidence for overlapping, but distinct etiological pathways within ER+ breast cancer between morphological subtypes.", "link"=>"http://www.mendeley.com/research/genetic-predisposition-situ-invasive-lobular-carcinoma-breast", "reader_count"=>53, "reader_count_by_academic_status"=>{"Professor > Associate Professor"=>5, "Librarian"=>2, "Researcher"=>5, "Student > Doctoral Student"=>3, "Student > Ph. D. Student"=>9, "Student > Postgraduate"=>5, "Student > Master"=>9, "Other"=>3, "Student > Bachelor"=>8, "Lecturer"=>1, "Professor"=>3}, "reader_count_by_user_role"=>{"Professor > Associate Professor"=>5, "Librarian"=>2, "Researcher"=>5, "Student > Doctoral Student"=>3, "Student > Ph. D. Student"=>9, "Student > Postgraduate"=>5, "Student > Master"=>9, "Other"=>3, "Student > Bachelor"=>8, "Lecturer"=>1, "Professor"=>3}, "reader_count_by_subject_area"=>{"Unspecified"=>2, "Biochemistry, Genetics and Molecular Biology"=>7, "Medicine and Dentistry"=>21, "Agricultural and Biological Sciences"=>19, "Pharmacology, Toxicology and Pharmaceutical Science"=>1, "Business, Management and Accounting"=>2, "Social Sciences"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>21}, "Social Sciences"=>{"Social Sciences"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>19}, "Business, Management and Accounting"=>{"Business, Management and Accounting"=>2}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>7}, "Unspecified"=>{"Unspecified"=>2}, "Pharmacology, Toxicology and Pharmaceutical Science"=>{"Pharmacology, Toxicology and Pharmaceutical Science"=>1}}, "reader_count_by_country"=>{"Netherlands"=>1, "United States"=>2, "Japan"=>1, "Finland"=>1, "United Kingdom"=>1, "India"=>1}, "group_count"=>1}

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/1468817"], "description"=>"ai<p>Ductal (invasive) vs Ductal (in situ) in subjects where ER status exists, adjusted for ER status.</p>bi<p>Ductal (invasive) vs Lobular (invasive) in subjects where ER status exists adjusted for ER status, UK population-based studies grouped together.</p>bii<p>Ductal (invasive) vs Lobular (invasive), ER positive only.</p>biii<p>Ductal (invasive) vs Lobular (invasive), ER negative only.</p>c<p>Lobular (Invasive) vs Lobular (in situ) in subjects where ER status exists, adjusted for ER status.</p>", "links"=>[], "tags"=>["genetics", "Human genetics", "cancer", "rs11977670", "stratified", "tumour", "subtypes", "uk"], "article_id"=>1002804, "categories"=>["Biological Sciences"], "users"=>["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", "Thérèse 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", "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 Gonzalez-Neira", "Guillermo Pita", "M. Rosario Alonso", "Daniel C. Tessier", "Daniel Vincent", "François Bacot", "Manjeet K. Bolla", "Qin Wang", "Joe Dennis", "Kyriaki Michailidou", "Alison M. Dunning", "Per Hall", "Doug Easton", "Paul Pharoah", "Marjanka K. Schmidt", "Ian Tomlinson", "Montserrat Garcia-Closas"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1004285.t002", "stats"=>{"downloads"=>2, "page_views"=>12, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Association_with_risk_of_breast_cancer_for_rs11977670_stratified_by_breast_cancer_tumour_subtypes_Pooled_analysis_BCAC_GLACIER_UK_PHASE_II_/1002804", "title"=>"Association with risk of breast cancer for rs11977670 stratified by breast cancer tumour subtypes (Pooled analysis, BCAC, GLACIER, UK PHASE II).", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-04-17 03:24:08"}
  • {"files"=>["https://ndownloader.figshare.com/files/1468809"], "description"=>"<p>Forest plot for rs11977670.</p>", "links"=>[], "tags"=>["genetics", "Human genetics"], "article_id"=>1002801, "categories"=>["Biological Sciences"], "users"=>["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", "Thérèse 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", "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 Gonzalez-Neira", "Guillermo Pita", "M. Rosario Alonso", "Daniel C. Tessier", "Daniel Vincent", "François Bacot", "Manjeet K. Bolla", "Qin Wang", "Joe Dennis", "Kyriaki Michailidou", "Alison M. Dunning", "Per Hall", "Doug Easton", "Paul Pharoah", "Marjanka K. Schmidt", "Ian Tomlinson", "Montserrat Garcia-Closas"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1004285.g002", "stats"=>{"downloads"=>1, "page_views"=>7, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Forest_plot_for_rs11977670_/1002801", "title"=>"Forest plot for rs11977670.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-04-17 03:24:08"}
  • {"files"=>["https://ndownloader.figshare.com/files/1468808"], "description"=>"<p>Lobular cancer study design.</p>", "links"=>[], "tags"=>["genetics", "Human genetics", "cancer"], "article_id"=>1002800, "categories"=>["Biological Sciences"], "users"=>["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", "Thérèse 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", "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 Gonzalez-Neira", "Guillermo Pita", "M. Rosario Alonso", "Daniel C. Tessier", "Daniel Vincent", "François Bacot", "Manjeet K. Bolla", "Qin Wang", "Joe Dennis", "Kyriaki Michailidou", "Alison M. Dunning", "Per Hall", "Doug Easton", "Paul Pharoah", "Marjanka K. Schmidt", "Ian Tomlinson", "Montserrat Garcia-Closas"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1004285.g001", "stats"=>{"downloads"=>2, "page_views"=>12, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Lobular_cancer_study_design_/1002800", "title"=>"Lobular cancer study design.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-04-17 03:24:08"}
  • {"files"=>["https://ndownloader.figshare.com/files/1468828"], "description"=>"<p>*5622 cases, 34272 controls.</p><p>**401 cases, 24045 controls.</p>", "links"=>[], "tags"=>["genetics", "Human genetics", "ilc", "lcis", "pooled", "lobular"], "article_id"=>1002806, "categories"=>["Biological Sciences"], "users"=>["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", "Thérèse 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", "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 Gonzalez-Neira", "Guillermo Pita", "M. Rosario Alonso", "Daniel C. Tessier", "Daniel Vincent", "François Bacot", "Manjeet K. Bolla", "Qin Wang", "Joe Dennis", "Kyriaki Michailidou", "Alison M. Dunning", "Per Hall", "Doug Easton", "Paul Pharoah", "Marjanka K. Schmidt", "Ian Tomlinson", "Montserrat Garcia-Closas"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1004285.t003", "stats"=>{"downloads"=>4, "page_views"=>19, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_SNPs_associated_with_ILC_P_8722_8_or_LCIS_P_lt_0_05_in_a_pooled_lobular_analysis_GLACIER_and_BCAC_/1002806", "title"=>"SNPs associated with ILC (P<5×10<sup>−8</sup>) or LCIS (P<0.05) in a pooled lobular analysis (GLACIER and BCAC).", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-04-17 03:24:08"}
  • {"files"=>["https://ndownloader.figshare.com/files/1468811"], "description"=>"<p>* per allele.</p>", "links"=>[], "tags"=>["genetics", "Human genetics", "chromosome", "ilc", "populations", "european"], "article_id"=>1002803, "categories"=>["Biological Sciences"], "users"=>["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", "Thérèse 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", "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 Gonzalez-Neira", "Guillermo Pita", "M. Rosario Alonso", "Daniel C. Tessier", "Daniel Vincent", "François Bacot", "Manjeet K. Bolla", "Qin Wang", "Joe Dennis", "Kyriaki Michailidou", "Alison M. Dunning", "Per Hall", "Doug Easton", "Paul Pharoah", "Marjanka K. Schmidt", "Ian Tomlinson", "Montserrat Garcia-Closas"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1004285.t001", "stats"=>{"downloads"=>0, "page_views"=>42, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_rs11977670_chromosome_7_139942304_G_gt_A_and_association_ILC_in_populations_of_European_ancestry_/1002803", "title"=>"rs11977670, chromosome 7:139942304 G>A, and association ILC in populations of European ancestry.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-04-17 03:24:08"}
  • {"files"=>["https://ndownloader.figshare.com/files/1468838", "https://ndownloader.figshare.com/files/1468853", "https://ndownloader.figshare.com/files/1468852", "https://ndownloader.figshare.com/files/1468851", "https://ndownloader.figshare.com/files/1468850", "https://ndownloader.figshare.com/files/1468849", "https://ndownloader.figshare.com/files/1468848", "https://ndownloader.figshare.com/files/1468847", "https://ndownloader.figshare.com/files/1468846", "https://ndownloader.figshare.com/files/1468845", "https://ndownloader.figshare.com/files/1468844", "https://ndownloader.figshare.com/files/1468843", "https://ndownloader.figshare.com/files/1468841", "https://ndownloader.figshare.com/files/1468840", "https://ndownloader.figshare.com/files/1468839", "https://ndownloader.figshare.com/files/1468854"], "description"=>"<div><p>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 <i>in situ</i> (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), <i>P</i> = 6.0×10<sup>−10</sup>; <i>P</i>-het for ILC vs IDC ER+ tumors = 1.8×10<sup>−4</sup>). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and 15 with LCIS at <i>P</i>&lt;0.05. Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/<i>FGFR2</i>, <i>P</i>-het = 0.04 and rs889312/5q11/<i>MAP3K1</i>, <i>P</i>-het = 0.03); and two showed stronger associations for LCIS than ILC (rs6678914/1q32/<i>LGR6</i>, <i>P</i>-het = 0.001 and rs1752911/6q14, <i>P</i>-het = 0.04). In addition, seven of the 75 known loci showed significant differences between ER+ tumors with IDC and ILC histology, three of these showing stronger associations for ILC (rs11249433/1p11, rs2981579/10q26/<i>FGFR2</i> and rs10995190/10q21/<i>ZNF365</i>) and four associated only with IDC (5p12/rs10941679; rs2588809/14q24/<i>RAD51L1</i>, rs6472903/8q21 and rs1550623/2q31/<i>CDCA7</i>). In conclusion, we have identified one novel lobular breast cancer specific predisposition polymorphism at 7q34, and shown for the first time that common breast cancer polymorphisms predispose to LCIS. We have shown that", "links"=>[], "tags"=>["genetics", "Human genetics", "predisposition", "situ", "invasive", "lobular", "carcinoma"], "article_id"=>1002816, "categories"=>["Biological Sciences"], "users"=>["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", "Thérèse 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", "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 Gonzalez-Neira", "Guillermo Pita", "M. Rosario Alonso", "Daniel C. Tessier", "Daniel Vincent", "François Bacot", "Manjeet K. Bolla", "Qin Wang", "Joe Dennis", "Kyriaki Michailidou", "Alison M. Dunning", "Per Hall", "Doug Easton", "Paul Pharoah", "Marjanka K. Schmidt", "Ian Tomlinson", "Montserrat Garcia-Closas"], "doi"=>[nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil], "stats"=>{"downloads"=>131, "page_views"=>45, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Genetic_Predisposition_to_In_Situ_and_Invasive_Lobular_Carcinoma_of_the_Breast/1002816", "title"=>"Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2015-04-12 17:44:34"}
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PMC Usage Stats | Further Information

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Relative Metric

{"start_date"=>"2014-01-01T00:00:00Z", "end_date"=>"2014-12-31T00:00:00Z", "subject_areas"=>[{"subject_area"=>"/Earth sciences", "average_usage"=>[318]}, {"subject_area"=>"/Medicine and health sciences/Oncology", "average_usage"=>[266]}]}
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