Marina Bermisheva

ORCID: 0000-0002-0584-3969
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Research Areas
  • BRCA gene mutations in cancer
  • Genetic Associations and Epidemiology
  • Forensic and Genetic Research
  • Estrogen and related hormone effects
  • Yersinia bacterium, plague, ectoparasites research
  • Genetic factors in colorectal cancer
  • Linguistics and Cultural Studies
  • Cancer Genomics and Diagnostics
  • HER2/EGFR in Cancer Research
  • DNA Repair Mechanisms
  • Genetic diversity and population structure
  • Gene expression and cancer classification
  • Bioinformatics and Genomic Networks
  • Ovarian cancer diagnosis and treatment
  • Genomic variations and chromosomal abnormalities
  • Cytokine Signaling Pathways and Interactions
  • Nutrition, Genetics, and Disease
  • Cancer-related molecular mechanisms research
  • Forensic Anthropology and Bioarchaeology Studies
  • Genomics and Rare Diseases
  • Cancer-related Molecular Pathways
  • Breast Cancer Treatment Studies
  • Genomics and Chromatin Dynamics
  • MicroRNA in disease regulation
  • Cancer Risks and Factors

Ufa Institute of Chemistry
2019-2024

St Petersburg University
2019-2024

Institute of Biochemistry and Genetics of Ufa Scientific Centre
2007-2022

University of Manchester
2021

St Mary's Hospital
2021

Edinburgh Cancer Research
2021

Cancer Research Center
2021

Russian Academy of Sciences
2005-2020

Medizinische Hochschule Hannover
2009-2018

University of Tartu
2004-2018

Kyriaki Michailidou Sara Lindström Joe Dennis Jonathan Beesley Shirley Hui and 95 more Siddhartha Kar Audrey Lemaçon Penny Soucy Dylan M. Glubb Asha Rostamianfar Manjeet K. Bolla Qin Wang Jonathan P. Tyrer Ed Dicks Andrew Lee Zhaoming Wang Jamie Allen Renske Keeman Ursula Eilber Juliet D. French Xiaohong Chen Laura Fachal Karen McCue Amy E. McCart Reed Maya Ghoussaini Jason S. Carroll Xia Jiang Hilary K. Finucane Marcia Adams Muriel A. Adank Habibul Ahsan Kristiina Aittomäki Hoda Anton‐Culver Natalia Antonenkova Volker Arndt Kristan J. Aronson Banu K. Arun Paul L. Auer François Bacot Myrto Barrdahl Caroline Baynes Matthias W. Beckmann Sabine Behrens Javier Benı́tez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia Bogdanova Stig E. Bojesen Bernardo Bonanni Anne‐Lise Børresen‐Dale Judith S. Brand Hiltrud Brauch Paul Brennan Hermann Brenner Louise A. Brinton Per Broberg Ian W. Brock Annegien Broeks Angela Brooks‐Wilson Sara Y. Brucker Thomas Brüning Barbara Burwinkel Katja Butterbach Qiuyin Cai Hui Cai Trinidad Caldés Federico Canzian Ángel Carracedo Brian D. Carter Jose E. Castelao Tsun Leung Chan Ting‐Yuan David Cheng Kee Seng Chia Ji‐Yeob Choi Hans Christiansen Christine L. Clarke Margriet Collée Don Conroy Emilie Cordina‐Duverger Sten Cornelissen David G. Cox Angela Cox Simon S. Cross Julie M. Cunningham Kamila Czene Mary B. Daly Peter Devilee Kimberly F. Doheny Thilo Dörk Isabel dos‐Santos‐Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana Eccles Arif B. Ekici A. Heather Eliassen Carolina Ellberg Mingajeva Elvira Christoph Engel

10.1038/nature24284 article EN Nature 2017-10-20
Nasim Mavaddat Kyriaki Michailidou Joe Dennis Michael Lush Laura Fachal and 95 more Andrew Lee Jonathan P. Tyrer Ting‐Huei Chen Qin Wang Manjeet K. Bolla Xin Yang Muriel A. Adank Thomas U. Ahearn Kristiina Aittomäki Jamie Allen Irene L. Andrulis Hoda Anton‐Culver Natalia Antonenkova Volker Arndt Kristan J. Aronson Paul L. Auer Päivi Auvinen Myrto Barrdahl Laura E. Beane Freeman Matthias W. Beckmann Sabine Behrens Javier Benı́tez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia Bogdanova Stig E. Bojesen Bernardo Bonanni Anne‐Lise Børresen‐Dale Hiltrud Brauch Michael Bremer Hermann Brenner Adam R. Brentnall Ian W. Brock Angela Brooks‐Wilson Sara Y. Brucker Thomas Brüning Barbara Burwinkel Daniele Campa Brian D. Carter Jose E. Castelao Stephen J. Chanock Rowan T. Chlebowski Hans Christiansen Christine L. Clarke J. Margriet Collée Emilie Cordina‐Duverger Sten Cornelissen Fergus J. Couch Angela Cox Simon S. Cross Kamila Czene Mary B. Daly Peter Devilee Thilo Dörk Isabel dos‐Santos‐Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana Eccles Arif B. Ekici A. Heather Eliassen Carolina Ellberg Christoph Engel Mikael Eriksson D. Gareth Evans Peter A. Fasching Jonine D. Figueroa Olivia Fletcher Henrik Flyger Asta Försti Lin Fritschi Marike Gabrielson Manuela Gago‐Dominguez Susan M. Gapstur José Á. García-Sáenz Mia M. Gaudet V. Georgoulias Graham G. Giles I. R. Gilyazova Gord Glendon Mark S. Goldberg David E. Goldgar Anna González‐Neira Grethe I.G. Alnæs Mervi Grip Jacek Gronwald Anne Grundy Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A. Haiman Niclas Håkansson Ute Hamann Susan E. Hankinson

Stratification of women according to their risk breast cancer based on polygenic scores (PRSs) could improve screening and prevention strategies. Our aim was develop PRSs, optimized for prediction estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset empirically validate PRSs in prospective studies. The development comprised 94,075 case subjects 75,017 control European ancestry 69 studies, divided into training validation sets. Samples were...

10.1016/j.ajhg.2018.11.002 article EN cc-by-nc-nd The American Journal of Human Genetics 2018-12-13
Leila Dorling Sara Carvalho Jamie Allen Anna González‐Neira Craig Luccarini and 95 more Cecilia Wahlström Karen A. Pooley Michael T. Parsons Cristina Fortuño Qin Wang Manjeet K. Bolla Joe Dennis Renske Keeman M. Rosario Alonso Núria Álvarez Belén Herráez María Victoria Fernández Rocío Núñez‐Torres Ana Osório Jeanette Valcich Minerva Li Therese Törngren Patricia Harrington Caroline Baynes Don Conroy Brennan Decker Laura Fachal Nasim Mavaddat Thomas U. Ahearn Kristiina Aittomäki Natalia Antonenkova Norbert Arnold Patrick Arveux Margreet G.E.M. Ausems Päivi Auvinen Heiko Becher Matthias W. Beckmann Sabine Behrens Marina Bermisheva Katarzyna Białkowska Carl Blomqvist Natalia Bogdanova Nadja Bogdanova-Markov Stig E. Bojesen Bernardo Bonanni Anne‐Lise Børresen‐Dale Hiltrud Brauch Michael Bremer Ignacio Briceño Thomas Brüning Barbara Burwinkel David Cameron Nicola J. Camp Archie Campbell Ángel Carracedo Jose E. Castelao Melissa H. Cessna Stephen J. Chanock Hans Christiansen J. Margriet Collée Emilie Cordina‐Duverger Sten Cornelissen Kamila Czene Thilo Dörk Arif B. Ekici Christoph Engel Mikael Eriksson Peter A. Fasching Jonine D. Figueroa Henrik Flyger Asta Försti Marike Gabrielson Manuela Gago‐Dominguez V. Georgoulias Fabián Gil Graham G. Giles Gord Glendon E. Gómez Grethe I.G. Alnæs Pascal Guénel Andreas Hadjisavvas Lothar Haeberle Eric Hahnen Per Hall Ute Hamann Elaine F. Harkness Jaana M. Hartikainen Mikael Hartman Wei He Bernadette A. M. Heemskerk‐Gerritsen Peter Hillemanns Frans B.L. Hogervorst Antoinette Hollestelle Weang-Kee Ho Maartje J. Hooning Anthony Howell Keith Humphreys Faiza Idris Anna Jakubowska Audrey Jung

Genetic testing for breast cancer susceptibility is widely used, but many genes, evidence of an association with weak, underlying risk estimates are imprecise, and reliable subtype-specific lacking.

10.1056/nejmoa1913948 article EN New England Journal of Medicine 2021-01-20
Shahana Ahmed Gilles Thomas Maya Ghoussaini Catherine S. Healey Manjeet K. Humphreys and 95 more Radka Platte Jonathan J. Morrison Melanie Maranian Karen A. Pooley Robert Luben Diana Eccles D. Gareth Evans Olivia Fletcher Nichola Johnson Isabel dos‐Santos‐Silva Julian Peto Michael R. Stratton Nazneen Rahman Kevin B. Jacobs Ross L. Prentice Garnet L. Anderson Aleksandar Rajkovic J. David Curb Regina G. Ziegler Christine D. Berg Saundra S. Buys Catherine A. McCarty Heather Spencer Feigelson Eugenia E. Calle Michael J. Thun W. Ryan Diver Stig E. Bojesen Børge G. Nordestgaard Henrik Flyger Thilo Dörk Peter Schürmann Peter Hillemanns Johann H. Karstens Natalia Bogdanova Natalia Antonenkova Iosif V. Zalutsky Marina Bermisheva С.А. Федорова Э. К. Хуснутдинова Daehee Kang Keun-Young Yoo Dong‐Young Noh Sei-Hyun Ahn Peter Devilee Christi J. van Asperen Robert A.E.M. Tollenaar Caroline Seynaeve Montserrat García‐Closas Jolanta Lissowska Louise A. Brinton Beata Pepłońska Heli Nevanlinna Tuomas Heikkinen Kristiina Aittomäki Carl Blomqvist John L. Hopper Melissa C. Southey Letitia Smith Amanda B. Spurdle Marjanka K. Schmidt Annegien Broeks Richard R van Hien Sten Cornelissen Roger L. Milne Glòria Ribas Anna González‐Neira Javier Benı́tez Rita K. Schmutzler Barbara Burwinkel Claus R. Bartram Alfons Meindl Hiltrud Brauch Christina Justenhoven Ute Hamann Jenny Chang‐Claude Rebecca Hein Shan Wang‐Gohrke Annika Lindblom Sara Margolin Graham J. Mann Veli-Matti Kosma Vesa Kataja Janet E. Olson Xianshu Wang Zachary Fredericksen Graham G. Giles Gianluca Severi Laura Baglietto Dallas R. English Susan E. Hankinson David G. Cox Peter Kraft Lars J. Vatten Kristian Hveem Merethe Kumle

10.1038/ng.354 article EN Nature Genetics 2009-03-29
Catherine M. Phelan Karoline Kuchenbaecker Jonathan P. Tyrer Siddhartha Kar Kate Lawrenson and 95 more Stacey J. Winham Joe Dennis Ailith Pirie Marjorie J. Riggan Ganna Chornokur Madalene A. Earp Paulo C. Lyra Janet M. Lee Simon G. Coetzee Jonathan Beesley Lesley McGuffog Penny Soucy Ed Dicks Andrew Lee Daniel Barrowdale Julie Lecarpentier Goska Leslie Cora M. Aalfs Katja K.H. Aben Marcia Adams Julian Adlard Irene L. Andrulis Hoda Anton‐Culver Natalia Antonenkova Gerasimos Aravantinos Norbert Arnold Banu K. Arun Brita Arver Jacopo Azzollini Judith Balmañà Susana Banerjee Laure Barjhoux Rósa B. Barkardóttir Yukie Bean Matthias W Beckmann Alicia Beeghly-Fadiel Javier Benı́tez Marina Bermisheva Marcus Q. Bernardini Michael J. Birrer Line Bjorge Amanda Black Kenneth B. Blankstein Marinus J. Blok Clara Bodelón Natalia Bogdanova Anders Bojesen Bernardo Bonanni Åke Borg Angela R. Bradbury James D. Brenton Carole Brewer Louise A. Brinton Per Broberg Angela Brooks‐Wilson Fiona Bruinsma Joan Brunet Bruno Buecher Ralf Butzow Saundra S. Buys Trinidad Caldés Maria A. Caligo Ian Campbell Rikki A. Cannioto Michael E. Carney Terence Cescon Salina B Chan Jenny Chang-Claude Stephen J. Chanock Xiaohong Chen Yoke-Eng Chiew Jocelyne Chiquette Wendy K. Chung Kathleen Claes Thomas Conner Linda S Cook Jackie Cook Daniel W. Cramer Julie M. Cunningham Aimee A. D’Aloisio Mary B Daly Francesca Damiola Sakaeva Dina Damirovna Agnieszka Dansonka‐Mieszkowska Fanny Dao Rosemarie Davidson Anna deFazio Capucine Delnatte Kimberly F. Doheny Orland Dı́ez Yuan Chun Ding Jennifer A. Doherty Susan M. Domchek Cecilia M Dorfling Thilo Dörk

10.1038/ng.3826 article EN Nature Genetics 2017-03-27
Roger L. Milne Karoline Kuchenbaecker Kyriaki Michailidou Jonathan Beesley Siddhartha Kar and 95 more Sara Lindström Shirley Hui Audrey Lemaçon Penny Soucy Joe Dennis Xia Jiang Asha Rostamianfar Hilary K. Finucane Manjeet K. Bolla Lesley McGuffog Qin Wang Cora M. Aalfs Marcia Adams Julian Adlard Simona Agata Shahana Ahmed Habibul Ahsan Kristiina Aittomäki Fares Al‐Ejeh Jamie Allen Christine B. Ambrosone Christopher I. Amos Irene L. Andrulis Hoda Anton‐Culver Natalia Antonenkova Volker Arndt Norbert Arnold Kristan J. Aronson Bernd Auber Paul L. Auer Margreet G.E.M. Ausems Jacopo Azzollini François Bacot Judith Balmañà Monica Barile Laure Barjhoux Rósa B. Barkardóttir Myrto Barrdahl Daniel R. Barnes Daniel Barrowdale Caroline Baynes Matthias W. Beckmann Javier Benı́tez Marina Bermisheva Leslie Bernstein Yves‐Jean Bignon Kathleen R. Blazer Marinus J. Blok Carl Blomqvist William J. Blot Kristie Bobolis Bram Boeckx Natalia Bogdanova Anders Bojesen Stig E. Bojesen Bernardo Bonanni Anne‐Lise Børresen‐Dale Anikó Bozsik Angela R. Bradbury Judith S. Brand Hiltrud Brauch Hermann Brenner Brigitte Bressac–de Paillerets Carole Brewer Louise A. Brinton Per Broberg Angela Brooks‐Wilson Joan Brunet Thomas Brüning Barbara Burwinkel Saundra S. Buys Jinyoung Byun Qiuyin Cai Trinidad Caldés Maria A. Caligo Ian Campbell Federico Canzian Olivier Caron Ángel Carracedo Brian D. Carter Jose E. Castelao Laurent Castéra Virginie Caux‐Moncoutier Salina Chan Jenny Chang‐Claude Stephen J. Chanock Xiaohong Chen Ting‐Yuan David Cheng Jocelyne Chiquette Hans Christiansen Kathleen Claes Christine L. Clarke Thomas Conner Don Conroy Jackie Cook

10.1038/ng.3785 article EN Nature Genetics 2017-10-23
Lang Wu Wei Shi Jirong Long Xingyi Guo Kyriaki Michailidou and 95 more Jonathan Beesley Manjeet K. Bolla Xiao‐Ou Shu Yingchang Lu Qiuyin Cai Fares Al‐Ejeh Esdy Rozali Qin Wang Joe Dennis Bingshan Li Chenjie Zeng Helian Feng Alexander Gusev Richard Barfield Irene L. Andrulis Hoda Anton‐Culver Volker Arndt Kristan J. Aronson Paul L. Auer Myrto Barrdahl Caroline Baynes Matthias W. Beckmann Javier Benı́tez Marina Bermisheva Carl Blomqvist Natalia Bogdanova Stig E. Bojesen Hiltrud Brauch Hermann Brenner Louise A. Brinton Per Broberg Sara Y. Brucker Barbara Burwinkel Trinidad Caldés Federico Canzian Brian D. Carter Jose E. Castelao Jenny Chang‐Claude Xiaohong Chen Ting‐Yuan David Cheng Hans Christiansen Christine L. Clarke Margriet Collée Sten Cornelissen Fergus J. Couch David G. Cox Angela Cox Simon S. Cross Julie M. Cunningham Kamila Czene Mary B. Daly Peter Devilee Kimberly F. Doheny Thilo Dörk Isabel dos‐Santos‐Silva Martine Dumont Miriam Dwek Diana Eccles Ursula Eilber A. Heather Eliassen Christoph Engel Mikael Eriksson Laura Fachal Peter A. Fasching Jonine D. Figueroa Dieter Flesch‐Janys Olivia Fletcher Henrik Flyger Lin Fritschi Marike Gabrielson Manuela Gago‐Dominguez Susan M. Gapstur Montserrat García‐Closas Mia M. Gaudet Maya Ghoussaini Graham G. Giles Mark S. Goldberg David E. Goldgar Anna González‐Neira Pascal Guénel Eric Hahnen Christopher A. Haiman Niclas Håkansson Per Hall Emily Hallberg Ute Hamann Patricia Harrington Alexander Hein Belynda Hicks Peter Hillemanns Antoinette Hollestelle Robert N. Hoover John L. Hopper Guanmengqian Huang Keith Humphreys

10.1038/s41588-018-0132-x article EN Nature Genetics 2018-06-18
Laura Fachal Hugues Aschard Jonathan Beesley Daniel R. Barnes Jamie Allen and 95 more Siddhartha Kar Karen A. Pooley Joe Dennis Kyriaki Michailidou Constance Turman Penny Soucy Audrey Lemaçon Michael Lush Jonathan P. Tyrer Maya Ghoussaini Mahdi Moradi Marjaneh Xia Jiang Simona Agata Kristiina Aittomäki M. Rosario Alonso Irene L. Andrulis Hoda Anton‐Culver Natalia Antonenkova Aðalgeir Arason Volker Arndt Kristan J. Aronson Banu K. Arun Bernd Auber Paul L. Auer Jacopo Azzollini Judith Balmañà Rósa B. Barkardóttir Daniel Barrowdale Alicia Beeghly‐Fadiel Javier Benı́tez Marina Bermisheva Katarzyna Białkowska Amie Blanco Carl Blomqvist William J. Blot Natalia Bogdanova Stig E. Bojesen Manjeet K. Bolla Bernardo Bonanni Åke Borg Kristin Bosse Hiltrud Brauch Hermann Brenner Ignacio Briceño Ian W. Brock Angela Brooks‐Wilson Thomas Brüning Barbara Burwinkel Saundra S. Buys Qiuyin Cai Trinidad Caldés Maria A. Caligo Nicola J. Camp Ian Campbell Federico Canzian Jason S. Carroll Brian D. Carter Jose E. Castelao Jocelyne Chiquette Hans Christiansen Wendy K. Chung Kathleen Claes Christine L. Clarke Margriet Collée Sten Cornelissen Fergus J. Couch Angela Cox Simon S. Cross Cezary Cybulski Kamila Czene Mary B. Daly Miguel de la Hoya Peter Devilee Orland Dı́ez Yuan Chun Ding Gillian S. Dite Susan M. Domchek Thilo Dörk Isabel dos‐Santos‐Silva Arnaud Droit Stéphane Dubois Martine Dumont M. Durán Lorraine Durcan Miriam Dwek Diana Eccles Christoph Engel Mikael Eriksson D. Gareth Evans Peter A. Fasching Olivia Fletcher Giuseppe Floris Henrik Flyger Lenka Foretová William D. Foulkes

10.1038/s41588-019-0537-1 article EN Nature Genetics 2020-01-01
Nasim Mavaddat Leila Dorling Sara Carvalho Jamie Allen Anna González‐Neira and 89 more Renske Keeman Manjeet K. Bolla Joe Dennis Qin Wang Thomas U. Ahearn Irene L. Andrulis Matthias W. Beckmann Sabine Behrens Javier Benı́tez Marina Bermisheva Carl Blomqvist Natalia Bogdanova Stig E. Bojesen Ignacio Briceño Thomas Brüning Nicola J. Camp Archie Campbell Jose E. Castelao Jenny Chang‐Claude Stephen J. Chanock Georgia Chenevix‐Trench Hans Christiansen Kamila Czene Thilo Dörk Mikael Eriksson D. Gareth Evans Peter A. Fasching Jonine D. Figueroa Henrik Flyger Marike Gabrielson Manuela Gago‐Dominguez Jürgen Geisler Graham G. Giles Pascal Guénel Andreas Hadjisavvas Eric Hahnen Per Hall Ute Hamann Jaana M. Hartikainen Mikael Hartman Reiner Hoppe Sacha J. Howell Anna Jakubowska Audrey Jung Э. К. Хуснутдинова Vessela N. Kristensen Jingmei Li Swee Ho Lim Annika Lindblom Maria A. Loizidou Artitaya Lophatananon Jan Lubiński Michael J. Madsen Graham J. Mann Mehdi Manoochehri Sara Margolin Dimitrios Mavroudis Roger L. Milne Nur Aishah Mohd Taib Anna Morra Kenneth Muir Nadia Obi Ana Osório Tjoung‐Won Park‐Simon Paolo Peterlongo Paolo Radice Emmanouil Saloustros Elinor J. Sawyer Rita K. Schmutzler Mitul Shah Xueling Sim Melissa C. Southey Heather Thorne Ian Tomlinson Diana Torres Thérèse Truong Cheng Har Yip Amanda B. Spurdle Maaike P.G. Vreeswijk Alison M. Dunning Montserrat García‐Closas Paul D.P. Pharoah Anders Kvist Taru Muranen Heli Nevanlinna Soo‐Hwang Teo Peter Devilee Marjanka K. Schmidt Douglas F. Easton

Rare germline genetic variants in several genes are associated with increased breast cancer (BC) risk, but their precise contributions to different disease subtypes unclear. This information is relevant guidelines for gene panel testing and risk prediction.To characterize tumors BC susceptibility large-scale population- or hospital-based studies.The multicenter, international case-control analysis of the BRIDGES study included 42 680 patients 46 387 control participants, comprising women...

10.1001/jamaoncol.2021.6744 article EN cc-by JAMA Oncology 2022-01-27

CHEK2*1100delC is a well-established breast cancer risk variant that most prevalent in European populations; however, there are limited data on of by age and tumor subtype, which limits its usefulness prediction. We aimed to generate subtype- age-specific estimates using from the Breast Cancer Association Consortium, including 44,777 patients with 42,997 controls 33 studies genotyped for CHEK2*1100delC.

10.1200/jco.2016.66.5844 article EN Journal of Clinical Oncology 2016-06-07
Manuel A. R. Ferreira Eric R. Gamazon Fares Al‐Ejeh Kristiina Aittomäki Irene L. Andrulis and 95 more Hoda Anton‐Culver Aðalgeir Arason Volker Arndt Kristan J. Aronson Banu K. Arun Ella Asseryanis Jacopo Azzollini Judith Balmañà Daniel R. Barnes Daniel Barrowdale Matthias W. Beckmann Sabine Behrens Javier Benı́tez Marina Bermisheva Katarzyna Białkowska Carl Blomqvist Natalia Bogdanova Stig E. Bojesen Manjeet K. Bolla Åke Borg Hiltrud Brauch Hermann Brenner Annegien Broeks Barbara Burwinkel Trinidad Caldés Maria A. Caligo Daniele Campa Ian Campbell Federico Canzian Jonathan Carter Brian D. Carter Jose E. Castelao Jenny Chang‐Claude Stephen J. Chanock Hans Christiansen Wendy K. Chung Kathleen Claes Christine L. Clarke Julian Adlard Munaza Ahmed Julian Barwell Angela Brady Carole Brewer Jackie Cook Rosemarie Davidson Alan C. Donaldson Jacqueline Eason Ros Eeles D. Gareth Evans Helen Gregory Helen Hanson Alex Henderson Shirley Hodgson Louise Izatt Michael J. Kennedy Fiona Lalloo Clare M. Miller Patrick J. Morrison Kai‐Ren Ong Jo Perkins Mary Porteous Mark T. Rogers Lucy Side Katie Snape Lisa Walker Patricia A. Harrington Norbert Arnold Bernd Auber Nadja Bogdanova-Markov Julika Borde Almuth Caliebe Nina Ditsch Bernd Dworniczak Stefanie Engert Ulrike Faust Andrea Gehrig Eric Hahnen Jan Hauke Julia Hentschel Wei He Ellen Honisch Walter Just Karin Kast Mirjam Larsen Johannes Lemke Huu Phuc Nguyen Dieter Niederacher Claus‐Eric Ott Konrad Platzer Esther Pohl‐Rescigno Juliane Ramser Kerstin Rhiem Doris Steinemann Christian Sutter Raymonda Varon-Mateeva

Abstract Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood spleen. Using expression quantitative trait loci (eQTL) reported these identify 26 previously unreported, likely target genes of overall risk variants, 17 for estrogen receptor (ER)-negative cancer, several with a known function. We...

10.1038/s41467-018-08053-5 article EN cc-by Nature Communications 2019-04-15

The genetic origins of Uralic speakers from across a vast territory in the temperate zone North Eurasia have remained elusive. Previous studies shown contrasting proportions Eastern and Western Eurasian ancestry their mitochondrial Y chromosomal gene pools. While maternal lineages reflect by large geographic background given Uralic-speaking population, frequency chromosomes origin is distinctively high among European speakers. autosomal variation speakers, however, has not yet been studied...

10.1186/s13059-018-1522-1 article EN cc-by Genome biology 2018-09-21
Xiang Shu Lang Wu Nikhil K. Khankari Xiao‐Ou Shu Thomas J. Wang and 95 more Kyriaki Michailidou Manjeet K. Bolla Qin Wang Joe Dennis Roger L. Milne Marjanka K. Schmidt Paul D.P. Pharoah Irene L. Andrulis David J. Hunter Jacques Simard Douglas F. Easton Wei Zheng Beeghly-Fadiel Alicia Hoda Anton‐Culver Natalia Antonenkova Volker Arndt Kristan J. Aronson Paul L. Auer Myrto Barrdahl Caroline Baynes Laura E. Beane Freeman Matthias W. Beckmann Sabine Behrens Javier Benı́tez Marina Bermisheva Carl Blomqvist Natalia Bogdanova Stig E. Bojesen Hiltrud Brauch Hermann Brenner Louise A. Brinton Per Broberg Sara Y. Brucker Thomas Brüning Barbara Burwinkel Qiuyin Cai Trinidad Caldés Federico Canzian Brian D. Carter Jose E. Castelao Jenny Chang‐Claude Georgia Chenevix‐Trench Ting‐Yuan David Cheng Christine L. Clarke Don Conroy Fergus J. Couch David G. Cox Angela Cox Simon S. Cross Julie M. Cunningham Kamila Czene Mary B. Daly Kimberly F. Doheny Thilo Dörk Isabel dos‐Santos‐Silva Martine Dumont Alison M. Dunning Miriam Dwek H. Shelton Earp Diana Eccles A. Heather Eliassen Christoph Engel Mikael Eriksson D. Gareth Evans Laura Fachal Peter A. Fasching Jonine D. Figueroa Olivia Fletcher Henrik Flyger Lin Fritschi Marike Gabrielson Manuela Gago‐Dominguez Susan M. Gapstur Montserrat García‐Closas Mia M. Gaudet Maya Ghoussaini Graham G. Giles Mark S. Goldberg David E. Goldgar Anna González‐Neira Pascal Guénel Eric Hahnen Christopher A. Haiman Niclas Håkansson Per Hall Emily Hallberg Ute Hamann Patricia Harrington Wei He Alexander Hein Belynda Hicks Peter Hillemanns Frans B.L. Hogervorst Antoinette Hollestelle Robert N. Hoover

Abstract Background In addition to the established association between general obesity and breast cancer risk, central circulating fasting insulin glucose have been linked development of this common malignancy. Findings from previous studies, however, inconsistent, nature associations is unclear. Methods We conducted Mendelian randomization analyses evaluate using genetic instruments, with insulin, glucose, 2-h body mass index (BMI) BMI-adjusted waist-hip-ratio (WHRadj BMI). first confirmed...

10.1093/ije/dyy201 article EN International Journal of Epidemiology 2018-09-07
Suzanne C. Dixon‐Suen Sarah J. Lewis Richard M. Martin Dallas R. English Terry Boyle and 95 more Graham G. Giles Kyriaki Michailidou Manjeet K. Bolla Qin Wang Joe Dennis Michael Lush ABCTB Investigators Thomas U. Ahearn Christine B. Ambrosone Irene L. Andrulis Hoda Anton‐Culver Volker Arndt Kristan J. Aronson Annelie Augustinsson Päivi Auvinen Laura E. Beane Freeman Heiko Becher Matthias W. Beckmann Sabine Behrens Marina Bermisheva Carl Blomqvist Natalia Bogdanova Stig E. Bojesen Bernardo Bonanni Hermann Brenner Thomas Brüning Saundra S. Buys Nicola J. Camp Daniele Campa Federico Canzian Jose E. Castelao Melissa H. Cessna Jenny Chang‐Claude Stephen J. Chanock Christine L. Clarke Don Conroy Fergus J. Couch Angela Cox Simon S. Cross Kamila Czene Mary B. Daly Peter Devilee Thilo Dörk Miriam Dwek Diana Eccles A. Heather Eliassen Christoph Engel Mikael Eriksson D. Gareth Evans Peter A. Fasching Olivia Fletcher Henrik Flyger Lin Fritschi Marike Gabrielson Manuela Gago‐Dominguez Montserrat García‐Closas José Á. García-Sáenz Mark S. Goldberg Pascal Guénel Melanie Gündert Eric Hahnen Christopher A. Haiman Lothar Häberle Niclas Håkansson Per Hall Ute Hamann Steven N. Hart Michelle Harvie Peter Hillemanns Antoinette Hollestelle Maartje J. Hooning Reiner Hoppe John L. Hopper Anthony Howell David J. Hunter Anna Jakubowska Wolfgang Janni Esther M. John Audrey Jung Rudolf Kaaks Renske Keeman Cari M. Kitahara Stella Koutros Peter Kraft Vessela N. Kristensen Katerina Kubelka‐Sabit Allison W. Kurian James V. Lacey Diether Lambrechts Loı̈c Le Marchand Annika Lindblom Sibylle Loibl Jan Lubiński Arto Mannermaa Mehdi Manoochehri

Physical inactivity and sedentary behaviour are associated with higher breast cancer risk in observational studies, but ascribing causality is difficult. Mendelian randomisation (MR) assesses by simulating randomised trial groups using genotype. We assessed whether lifelong physical activity or time, genotype, may be causally overall, pre/post-menopause, case-groups defined tumour characteristics.

10.1136/bjsports-2021-105132 article EN British Journal of Sports Medicine 2022-09-06
Eileen Dareng Jonathan P. Tyrer Daniel R. Barnes Michelle R. Jones Xin Yang and 95 more Katja K.H. Aben Muriel A. Adank Simona Agata Irene L. Andrulis Hoda Anton‐Culver Natalia Antonenkova Gerasimos Aravantinos Banu K. Arun Annelie Augustinsson Judith Balmañà Elisa V. Bandera Rósa B. Barkardóttir Daniel Barrowdale Matthias W. Beckmann Alicia Beeghly‐Fadiel Javier Benı́tez Marina Bermisheva Marcus Q. Bernardini Line Bjørge Amanda Black Natalia Bogdanova Bernardo Bonanni Åke Borg James D. Brenton Agnieszka Budziłowska Ralf Bützow Saundra S. Buys Hui Cai Maria A. Caligo Ian Campbell Rikki A. Cannioto Hayley Cassingham Jenny Chang‐Claude Stephen J. Chanock Kexin Chen Yoke-Eng Chiew Wendy K. Chung Kathleen Claes Sarah V. Colonna Fabienne Lesueur Noura Mebirouk Christoph Engel Rita K. Schmutzler Daniel Barrowdale Eleanor Davies Diana Eccles D. Gareth Evans Linda S. Cook Fergus J. Couch Mary B. Daly Fanny Dao Eleanor Davies Miguel de la Hoya Robin De Putter Joe Dennis Allison DePersia Peter Devilee Orland Dı́ez Yuan Chun Ding Jennifer A. Doherty Susan M. Domchek Thilo Dörk Andreas du Bois Matthias Dürst Diana Eccles Heather Eliassen Christoph Engel D. Gareth Evans Peter A. Fasching James M. Flanagan Renée T. Fortner Eva Macháčková Eitan Friedman Patricia A. Ganz Judy E. Garber Francesca Gensini Graham G. Giles Gord Glendon Andrew K. Godwin Marc T. Goodman Mark H. Greene Jacek Gronwald Eric Hahnen Christopher A. Haiman Niclas Håkansson Ute Hamann Thomas van Overeem Hansen Holly R. Harris Mikael Hartman Florian Heitz Michelle A.T. Hildebrandt Estrid Høgdall Claus Høgdall John L. Hopper Ruea‐Yea Huang

Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could predictive performance over standard approaches PRS construction. Here, we implemented computationally efficient, penalized, logistic regression (lasso, elastic net, stepwise) individual level genotype data and a Bayesian framework with continuous shrinkage, "select shrink summary statistics" (S4),...

10.1038/s41431-021-00987-7 article EN cc-by European Journal of Human Genetics 2022-01-13
Leila Dorling Sara Carvalho Jamie Allen Michael T. Parsons Cristina Fortuño and 95 more Anna González‐Neira Stephan Heijl Muriel A. Adank Thomas U. Ahearn Irene L. Andrulis Päivi Auvinen Heiko Becher Matthias W. Beckmann Sabine Behrens Marina Bermisheva Natalia Bogdanova Stig E. Bojesen Manjeet K. Bolla Michael Bremer Ignacio Briceño Nicola J. Camp Archie Campbell Jose E. Castelao Jenny Chang-Claude Stephen J. Chanock Georgia Chenevix‐Trench J. Margriet Collée Kamila Czene Joe Dennis Thilo Dörk Mikael Eriksson D. Gareth Evans Peter A. Fasching Jonine D. Figueroa Henrik L. Flyger Marike Gabrielson Manuela Gago‐Dominguez Montserrat García‐Closas Graham G. Giles Gord Glendon Pascal Guénel Melanie Gündert Andreas Hadjisavvas Eric Hahnen Per Hall Ute Hamann Elaine F. Harkness Mikael Hartman Frans B.L. Hogervorst Antoinette Hollestelle Reiner Hoppe Sacha J. Howell Anna Jakubowska Audrey Jung Elza Khusnutdinova Sung-Won Kim Yon‐Dschun Ko Vessela N. Kristensen Inge M.M. Lakeman Jingmei Li Annika Lindblom Maria A. Loizidou Artitaya Lophatananon Jan Lubiński Craig Luccarini Michael J. Madsen Arto Mannermaa Mehdi Manoochehri Sara Margolin Dimitrios Mavroudis Roger L. Milne Nur Aishah Mohd Taib Kenneth Muir Heli Nevanlinna William G. Newman Jan C. Oosterwijk Sue K. Park Paolo Peterlongo Paolo Radice Emmanouil Saloustros Elinor J. Sawyer Rita K. Schmutzler Mitul Shah Xueling Sim Melissa C. Southey Harald Surowy Maija Suvanto Ian Tomlinson Diana Torres Thérèse Truong Christi J. van Asperen Regina Waltes Qin Wang Xiaohong R. Yang Paul D.P. Pharoah Marjanka K. Schmidt Javier Benı́tez Bas Vroling Alison M. Dunning Soo‐Hwang Teo

Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks missense these genes uncertain. We analyzed data on 59,639 cases 53,165 controls from studies participating the Breast Cancer Association Consortium BRIDGES project. sampled training (80%) validation (20%) sets to analyze rare ATM (1146 variants), BRCA1 (644), BRCA2 (1425), CHEK2 (325), (472). evaluated according five silico prediction-of-deleteriousness algorithms,...

10.1186/s13073-022-01052-8 article EN cc-by Genome Medicine 2022-05-18
Roger L. Milne Javier Benı́tez Heli Nevanlinna Tuomas Heikkinen Kristiina Aittomäki and 88 more Carl Blomqvist José Ignacio Arias M. Pilar Zamora Barbara Burwinkel Claus R. Bartram Alfons Meindl Rita K. Schmutzler Angela Cox Ian W. Brock Graeme Elliott Malcolm Reed Melissa C. Southey Letitia Smith Amanda B. Spurdle John L. Hopper Fergus J. Couch Janet E. Olson Xianshu Wang Zachary Fredericksen Peter Schürmann Michael Bremer Peter Hillemanns Thilo Dörk Peter Devilee C. J. van Asperen Rob A.�E.�M. Tollenaar Caroline Seynaeve Per Hall Kamila Czene Jianjun Liu Yuqing Li Shahana Ahmed Alison M. Dunning Melanie Maranian Paul D.P. Pharoah Georgia Chenevix‐Trench Jonathan Beesley Natalia Bogdanova Natalia N. Antonenkova Iosif V. Zalutsky Hoda Anton-Culver Argyrios Ziogas Hiltrud Brauch Christina Justenhoven Yon‐Dschun Ko Susanne Haas Peter A. Fasching Reiner Strick Arif B. Ekici Matthias W. Beckmann Graham G. Giles Gianluca Severi Laura Baglietto Dallas R. English Olivia Fletcher Nichola Johnson Isabel dos‐Santos‐Silva Julian Peto Clare Turnbull Sarah Hines Anthony Renwick Nazneen Rahman Børge G. Nordestgaard Stig E. Bojesen Henrik Flyger Daehee Kang Keun-Young Yoo Dong‐Young Noh Arto Mannermaa Vesa Kataja Veli-Matti Kosma Montserrat García‐Closas Stephen Chanock Jolanta Lissowska Louise A. Brinton Jenny Chang-Claude Shan Wang-Gohrke Chen‐Yang Shen Hui‐Chun Wang Jyh-Cherng Yu Sou-Tong Chen Marina Bermisheva Tatjana Nikolaeva Э. К. Хуснутдинова Manjeet K. Humphreys Jonathan J. Morrison Radka Platte Douglas F. Easton

BackgroundA recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of susceptibility to estrogen receptor (ER)–positive breast cancer. We attempted confirm this using the Breast Cancer Association Consortium.

10.1093/jnci/djp167 article EN JNCI Journal of the National Cancer Institute 2009-07-01
Jonine D. Figueroa Montserrat García‐Closas Manjeet K. Humphreys Radka Platte John L. Hopper and 95 more Melissa C. Southey Carmel Apicella Fleur Hammet Marjanka K. Schmidt Annegien Broeks Rob A.�E.�M. Tollenaar Laura J. van’t Veer Peter A. Fasching Matthias W. Beckmann Arif B. Ekici Reiner Strick Julian Peto Isabel dos‐Santos‐Silva Olivia Fletcher Nichola Johnson Elinor J. Sawyer Ian Tomlinson Michael J. Kerin Barbara Burwinkel F. Marmé Andreas Schneeweiß Christof Sohn Stig E. Bojesen Henrik Flyger Børge G. Nordestgaard Javier Benı́tez Roger L. Milne José Ignacio Arias M. Pilar Zamora Hermann Brenner Heiko Müller Volker Arndt Nazneen Rahman Clare Turnbull Sheila Seal Anthony Renwick Hiltrud Brauch Christina Justenhoven Thomas Brüning Jenny Chang‐Claude Rebecca Hein Shan Wang‐Gohrke Thilo Dörk Peter Schürmann Michael Bremer Peter Hillemanns Heli Nevanlinna Tuomas Heikkinen Kristiina Aittomäki Carl Blomqvist Natalia Bogdanova Natalia Antonenkova Yuriy Rogov Johann H. Karstens Marina Bermisheva Darya Prokofieva Shamil Hanafievich Gantcev Э. К. Хуснутдинова Annika Lindblom Sara Margolin Georgia Chenevix‐Trench Jonathan Beesley Xiaohong Chen Graham J. Mann Veli‐Matti Kosma Ylermi Soini Vesa Kataja Diether Lambrechts Betül T. Yesilyurt Marie-Rose Chrisiaens Stéphanie Peeters Paolo Radice Paolo Peterlongo Siranoush Manoukian Monica Barile Fergus Couch Adam M. Lee Robert B. Diasio Xianshu Wang Graham G. Giles Gianluca Severi Laura Baglietto Catriona Maclean Ken Offit Mark E. Robson Joseph Vijai Mia M. Gaudet Esther M. John Robert Winqvist Katri Pylkäs Arja Jukkola‐Vuorinen Mervi Grip Irene L. Andrulis Julia A. Knight Anna Marie Mulligan

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 estrogen receptor (ER)-positive tumors. Using data from the Breast Cancer Association Consortium (BCAC), we sought to determine whether risks differ by ER, progesterone (PR), human epidermal growth factor 2 (HER2), grade, node status, tumor size, ductal or lobular morphology. We...

10.1093/hmg/ddr368 article EN Human Molecular Genetics 2011-08-18
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