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Marjanka K. Schmidt

ORCID: 0000-0002-2228-429X
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A5007165972
Research Areas
  • BRCA gene mutations in cancer
  • Breast Cancer Treatment Studies
  • Genetic Associations and Epidemiology
  • Cancer Genomics and Diagnostics
  • Nutrition, Genetics, and Disease
  • Cancer Risks and Factors
  • Global Cancer Incidence and Screening
  • Genetic factors in colorectal cancer
  • Estrogen and related hormone effects
  • Bioinformatics and Genomic Networks
  • Breast Lesions and Carcinomas
  • HER2/EGFR in Cancer Research
  • Gene expression and cancer classification
  • Genomic variations and chromosomal abnormalities
  • Genomics and Chromatin Dynamics
  • Epigenetics and DNA Methylation
  • Advanced Breast Cancer Therapies
  • Cancer-related Molecular Pathways
  • DNA Repair Mechanisms
  • Metabolism, Diabetes, and Cancer
  • Molecular Biology Techniques and Applications
  • Cancer Immunotherapy and Biomarkers
  • Ethics in Clinical Research
  • Genomics and Rare Diseases
  • RNA modifications and cancer

The Netherlands Cancer Institute
 2016-2025

Leiden University Medical Center
 2006-2025

Oncode Institute
 2016-2025

Leiden University
 2019-2024

Erasmus MC Cancer Institute
 2015-2023

Klinik für Frauenheilkunde
 2023

University of Cambridge
 2014-2023

University of Oulu
 2023

University of California, Irvine
 2023

Dutch Cancer Society
 2011-2022

 Large-scale genotyping identifies 41 new loci associated with breast cancer risk
OPENALEX - Publications 
Kyriaki Michailidou Per Hall Anna González‐Neira Maya Ghoussaini Joe Dennis and 95 more Roger L. Milne Marjanka K. Schmidt Jenny Chang‐Claude Stig E. Bojesen Manjeet K. Bolla Qin Wang Ed Dicks Andrew Lee Clare Turnbull Nazneen Rahman Olivia Fletcher Julian Peto Lorna J. Gibson Isabel dos‐Santos‐Silva Heli Nevanlinna Taru Muranen Kristiina Aittomäki Carl Blomqvist Kamila Czene Astrid Irwanto Jianjun Liu Quinten Waisfisz Hanne Meijers‐Heijboer Muriel A. Adank Rob B. van der Luijt Rebecca Hein Norbert Dahmen L. Beckman Alfons Meindl Rita K. Schmutzler Bertram Müller‐Myhsok Peter Lichtner John L. Hopper Melissa C. Southey Enes Makalic Daniel F. Schmidt André G. Uitterlinden Albert Hofman David J. Hunter Stephen J. Chanock Daniel Vincent François Bacot Daniel C. Tessier Sander Canisius Lodewyk F.A. Wessels Christopher A. Haiman Mitul Shah Robert Luben Judith Brown Craig Luccarini Nils Schoof Keith Humphreys Jingmei Li Børge G. Nordestgaard Sune F. Nielsen Henrik Flyger Fergus J. Couch Xianshu Wang Celine M. Vachon Kristen N. Stevens Diether Lambrechts Matthieu Moisse Robert Paridaens Marie‐Rose Christiaens Anja Rudolph Stefan Nickels Dieter Flesch‐Janys Nichola Johnson Zoe Aitken Kirsimari Aaltonen Tuomas Heikkinen Annegien Broeks Laura J. van’t Veer C. Ellen van der Schoot Pascal Guénel Thérèse Truong Pierre Laurent–Puig F. Ménégaux Frederik Marmé Andreas Schneeweiß Christof Sohn Barbara Burwinkel M. Pilar Zamora José Ignacio Arias Pérez Guillermo Pita M. Rosario Alonso Angela Cox Ian W. Brock Simon S. Cross Malcolm Reed Elinor J. Sawyer Ian Tomlinson Michael J. Kerin Nicola Miller Brian E. Henderson

10.1038/ng.2563 article EN Nature Genetics 2013-03-27
 Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies
OPENALEX - Publications 
Xiaohong R. Yang Jenny Chang‐Claude Ellen L. Goode Fergus J. Couch Heli Nevanlinna and 95 more Roger L. Milne Mia M. Gaudet Marjanka K. Schmidt Annegien Broeks Angela Cox Peter A. Fasching Rebecca Hein Amanda B. Spurdle Fiona M. Blows Kristy Driver Dieter Flesch‐Janys Judith Heinz Hans‐Peter Sinn Alina Vrieling Tuomas Heikkinen Kristiina Aittomäki Päivi Heikkilä Carl Blomqvist Jolanta Lissowska Beata Pepłońska Stephen J. Chanock Jonine D. Figueroa Louise A. Brinton Per Hall Kamila Czene Keith Humphreys Hatef Darabi Jianjun Liu Laura van ‘t Veer Flora E. van Leeuwen Irene L. Andrulis Gord Glendon Julia A. Knight Anna Marie Mulligan Frances P. O’Malley Nayana Weerasooriya Esther M. John Matthias W. Beckmann Arndt Hartmann Sebastian Weihbrecht David L. Wachter Sebastian M. Jud Christian R. Loehberg Laura Baglietto Dallas R. English Graham G. Giles Catriona McLean Gianluca Severi Diether Lambrechts T. Vandorpe Caroline Weltens Robert Paridaens Ann Smeets Patrick Neven Hans Wildiers Xianshu Wang Janet E. Olson Victoria Cafourek Zachary Fredericksen Matthew Kosel Celine M. Vachon Helen Cramp Daniel Connley Simon S. Cross Sabapathy P. Balasubramanian Malcolm Reed Thilo Dörk Michael Bremer Andreas Meyer Johann H. Karstens Aysun Ay Tjoung‐Won Park‐Simon Peter Hillemanns José Ignacio Arias Pérez Primitiva Menéndez Rodríguez Pilar Zamora Javier Benı́tez Yon‐Dschun Ko Hans‐Peter Fischer Ute Hamann Beate Pesch Thomas Brüning Christina Justenhoven Hiltrud Brauch Diana Eccles William Tapper Sue Gerty Elinor J. Sawyer Ian Tomlinson Angela Jones Michael J. Kerin Nicola Miller Niall McInerney Hoda Anton‐Culver Argyrios Ziogas

Previous studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progesterone (PR) expression status of the tumors.

10.1093/jnci/djq526 article EN JNCI Journal of the National Cancer Institute 2010-12-29
 RAD51B in Familial Breast Cancer
OPENALEX - Publications 
Liisa M. Pelttari Sofia Khan Mikko Vuorela Johanna I. Kiiski Sara Vilske and 92 more Viivi Nevanlinna Salla Ranta Johanna Schleutker Robert Winqvist Anne Kallioniemi Thilo Dörk Natalia Bogdanova Jonine D. Figueroa Paul D.P. Pharoah Marjanka K. Schmidt Alison M. Dunning Montserrat García‐Closas Manjeet K. Bolla Joe Dennis Kyriaki Michailidou Sophia Wang John L. Hopper Melissa C. Southey Efraim H. Rosenberg Peter A. Fasching Matthias W. Beckmann Julian Peto Isabel dos‐Santos‐Silva Elinor J. Sawyer Ian Tomlinson Barbara Burwinkel Harald Surowy Pascal Guénel Thérèse Truong Stig E. Bojesen Børge G. Nordestgaard Javier Benı́tez Anna González‐Neira Susan L. Neuhausen Hoda Anton‐Culver Hermann Brenner Volker Arndt Alfons Meindl Rita K. Schmutzler Hiltrud Brauch Thomas Brüning Annika Lindblom Sara Margolin Graham J. Mann Jaana M. Hartikainen Georgia Chenevix‐Trench Laurien Van Dyck Hilde Janssen Jenny Chang-Claude Anja Rudolph Paolo Radice Paolo Peterlongo Emily Hallberg Janet E. Olson Graham G. Giles Roger L. Milne Christopher A. Haiman Fredrick R. Schumacher Jacques Simard Martine Dumont Vessela Kristensen Anne‐Lise Børresen‐Dale Wei Zheng Alicia Beeghly‐Fadiel Mervi Grip Irene L. Andrulis Gord Glendon Peter Devilee Caroline Seynaeve Maartje J. Hooning Margriet Collée Angela Cox Simon S. Cross Mitul Shah Robert Luben Ute Hamann Diana Torres Anna Jakubowska Jan Lubiński Fergus J. Couch Drakoulis Yannoukakos Nick Orr Anthony J. Swerdlow Hatef Darabi Jingmei Li Kamila Czene Per Hall Douglas F. Easton Johanna Mattson Carl Blomqvist Kristiina Aittomäki Heli Nevanlinna

Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 the risk of female cancer rs1314913 male cancer. The aim this study was investigate role RAD51B variants in predisposition, particularly context familial Finland. We sequenced coding region 168 Finnish patients from Helsinki for identification possible recurrent founder mutations. In addition, we studied known rs999737, rs2588809, SNPs haplotypes 44,791 cases 43,583 controls 40...

10.1371/journal.pone.0153788 article EN public-domain PLoS ONE 2016-05-05
 MicroRNA Related Polymorphisms and Breast Cancer Risk
OPENALEX - Publications 
Sofia Khan Dario Greco Kyriaki Michailidou Roger L. Milne Taru Muranen and 95 more 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 J. 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 Reed Marjanka K. Schmidt Annegien Broeks Laura J. V. a. n't. Veer Frans B.L. Hogervorst Peter A. Fasching Michael Schrauder Arif B. Ekici Matthias W. Beckmann Stig E. Bojesen Børge G. Nordestgaard Sune F. Nielsen Henrik Flyger Javier Benı́tez Pilar Zamora José Ignacio Arias Pérez Christopher A. Haiman Brian E. Henderson Fredrick R. Schumacher Loı̈c Le Marchand Paul D.P. Pharoah Alison M. Dunning Mitul Shah Robert Luben Judith Brown Fergus J. Couch Xianshu Wang Celine M. Vachon Janet E. Olson Diether Lambrechts Matthieu Moisse Robert Paridaens Marie-Rose Christiaens Pascal Guénel Thérèse Truong Pierre Laurent–Puig Claire Mulot F. Marmé 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 Bogdanova Natalia Antonenkova

Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or the miRNA binding sites may affect dependent gene expression regulation, which has been implicated various cancers, including breast cancer, and alter individual susceptibility to cancer. We investigated associations between related SNPs cancer risk. First we evaluated 2,196 a case-control study combining nine genome wide association studies (GWAS). Second, further 42 with suggestive evidence for using...

10.1371/journal.pone.0109973 article EN cc-by PLoS ONE 2014-11-12
 A common coding variant in CASP8 is associated with breast cancer risk
OPENALEX - Publications 
Angela Cox Alison M. Dunning Montserrat García‐Closas Sabapathy P. Balasubramanian Malcolm Reed and 74 more Karen A. Pooley Serena Scollen Caroline Baynes Bruce A.J. Ponder Stephen J. Chanock Jolanta Lissowska Louise A. Brinton Beata Pepłońska Melissa C. Southey John L. Hopper Margaret McCredie Graham G. Giles Olivia Fletcher Nichola Johnson Isabel dos‐Santos‐Silva Lorna J. Gibson Stig E. Bojesen Børge G. Nordestgaard C. K. Axelsson Diana Torres Ute Hamann Christina Justenhoven Hiltrud Brauch Jenny Chang‐Claude Silke Kropp Angela Risch Shan Wang‐Gohrke Peter Schürmann Natalia Bogdanova Thilo Dörk Rainer Fagerholm Kirsimari Aaltonen Carl Blomqvist Heli Nevanlinna Sheila Seal Anthony Renwick Michael R. Stratton Nazneen Rahman Suleeporn Sangrajrang David J. Hughes Fabrice Odefrey Paul Brennan Amanda B. Spurdle Georgia Chenevix‐Trench Jonathan Beesley Graham J. Mann Jaana M. Hartikainen Vesa Kataja Veli-Matti Kosma Fergus J. Couch Janet E. Olson Ellen L. Goode Annegien Broeks Marjanka K. Schmidt Frans B.L. Hogervorst Laura J. van’t Veer Daehee Kang Keun-Young Yoo Dong‐Young Noh Sei-Hyun Ahn Sara Wedrén Per Hall Yen-Ling Low Jianjun Liu Roger L. Milne Glòria Ribas Anna González‐Neira Javier Benı́tez Alice J. Sigurdson Denise L. Stredrick Bruce H. Alexander Jeffery P. Struewing Paul D.P. Pharoah Douglas F. Easton

10.1038/ng1981 article EN Nature Genetics 2007-02-11
 BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors
OPENALEX - Publications 
Andrew Lee Nasim Mavaddat Amber N. Wilcox Alex Cunningham Tim Carver and 12 more Simon Hartley Chantal Babb de Villiers À. Izquierdo Jacques Simard Marjanka K. Schmidt Fiona M Walter Nilanjan Chatterjee Montserrat García‐Closas Marc Tischkowitz Paul D.P. Pharoah Douglas F. Easton Antonis C. Antoniou

Breast cancer (BC) risk prediction allows systematic identification of individuals at highest and lowest risk. We extend the Ovarian Analysis Disease Incidence Carrier Estimation Algorithm (BOADICEA) model to incorporate effects polygenic scores (PRS) other factors (RFs).

10.1038/s41436-018-0406-9 article EN cc-by Genetics in Medicine 2019-01-09
 Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants
OPENALEX - Publications 
Nasim Mavaddat Paul D.P. Pharoah Kyriaki Michailidou Jonathan P. Tyrer Mark N. Brook and 95 more Manjeet K. Bolla Qin Wang Joe Dennis Alison M. Dunning Mitul Shah Robert Luben Judith Brown Stig E. Bojesen Børge G. Nordestgaard Sune F. Nielsen Henrik Flyger Kamila Czene Hatef Darabi Mikael Eriksson Julian Peto Isabel dos‐Santos‐Silva Frank Dudbridge Nichola Johnson Marjanka K. Schmidt Annegien Broeks Senno Verhoef Emiel J. Rutgers Anthony J. Swerdlow Alan Ashworth Nick Orr Minouk J. Schoemaker Jonine D. Figueroa Stephen J. Chanock Louise A. Brinton Jolanta Lissowska Fergus J. Couch Janet E. Olson Celine M. Vachon V. Shane Pankratz Diether Lambrechts Hans Wildiers Chantal Van Ongeval Erik Van Limbergen Vessela Kristensen Grethe Grenaker Alnæs Silje Nord Anne‐Lise Børresen‐Dale Heli Nevanlinna Taru Muranen Kristiina Aittomäki Carl Blomqvist Jenny Chang‐Claude Anja Rudolph Petra Seibold Dieter Flesch‐Janys Peter A. Fasching Lothar Haeberle Arif B. Ekici Matthias W. Beckmann Barbara Burwinkel Frederik Marmé Andreas Schneeweiß Christof Sohn Amy Trentham‐Dietz Polly A. Newcomb Linda Titus Kathleen M. Egan David J. Hunter Sara Lindström Rulla M. Tamimi Peter Kraft Nazneen Rahman Clare Turnbull Anthony Renwick Sheila Seal Jingmei Li Jianjun Liu Keith Humphreys Javier Benı́tez M. Pilar Zamora José Ignacio Arias Pérez Primitiva Menéndez Anna Jakubowska Jan Lubiński Katarzyna Jaworska–Bieniek Katarzyna Durda Natalia Bogdanova Natalia Antonenkova Thilo Dörk Hoda Anton‐Culver Susan L. Neuhausen Argyrios Ziogas Leslie Bernstein Peter Devilee Robert A.E.M. Tollenaar Caroline Seynaeve Christi J. van Asperen Angela Cox Simon S. Cross Malcolm Reed

Data for multiple common susceptibility alleles breast cancer may be combined to identify women at different levels of risk. Such stratification could guide preventive and screening strategies. However, empirical evidence genetic risk is lacking. We investigated the value using 77 cancer-associated single nucleotide polymorphisms (SNPs) stratification, in a study 33 673 cases 381 control European origin. tested all possible pair-wise multiplicative interactions constructed 77-SNP polygenic...

10.1093/jnci/djv036 article EN cc-by JNCI Journal of the National Cancer Institute 2015-04-02
 Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
OPENALEX - Publications 
Stig E. Bojesen Karen A. Pooley Sharon E. Johnatty Jonathan Beesley Kyriaki Michailidou and 95 more Jonathan P. Tyrer Stacey L. Edwards Hilda A. Pickett Howard C. Shen Chanel E. Smart Kristine M. Hillman L. Phuong Kate Lawrenson Michael D. Stutz Yi Lu Rod Karevan Nicholas T. Woods Rebecca L. Johnston Juliet D. French Xiaohong Chen Maren Weischer Sune F. Nielsen Melanie Maranian Maya Ghoussaini Shahana Ahmed Caroline Baynes Manjeet K. Bolla Qin Wang Joe Dennis Lesley McGuffog Daniel Barrowdale Andrew Lee Sue Healey Michael Lush Daniel C. Tessier Daniel Vincent Françis Bacot Ignace Vergote Sandrina Lambrechts Evelyn Despierre Harvey A. Risch Anna González‐Neira Mary Anne Rossing Guillermo Pita Jennifer A. Doherty Núria Álvarez Melissa C. Larson Brooke L. Fridley Nils Schoof Jenny Chang‐Claude Mine Cicek Julian Peto Kimberly R. Kalli Annegien Broeks Sebastian M. Armasu Marjanka K. Schmidt Linde M. Braaf Boris Winterhoff Heli Nevanlinna Gottfried E. Konecny Diether Lambrechts Lisa Rogmann Pascal Guénel Attila Teoman Roger L. Milne Joaquín J. García Angela Cox Vijayalakshmi Shridhar Barbara Burwinkel Frederik Marmé Rebecca Hein Elinor J. Sawyer Christopher A. Haiman Shan Wang‐Gohrke Irene L. Andrulis Kirsten B. Moysich John L. Hopper Kunle Odunsi Annika Lindblom Graham G. Giles Hermann Brenner Jacques Simard Galina Lurie Peter A. Fasching Michael E. Carney Paolo Radice Lynne R. Wilkens Anthony J. Swerdlow Marc T. Goodman Hiltrud Brauch Montserrat García‐Closas Peter Hillemanns Robert Winqvist Matthias Dürst Peter Devilee Ingo B. Runnebaum Anna Jakubowska Jan Lubiński Graham J. Mann Ralf Bützow

10.1038/ng.2566 article EN Nature Genetics 2013-03-27
 Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
OPENALEX - Publications 
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
 Genome-wide association studies identify four ER negative–specific breast cancer risk loci
OPENALEX - Publications 
Montserrat García‐Closas Fergus J. Couch Sara Lindström Kyriaki Michailidou Marjanka K. Schmidt and 95 more Mark N. Brook Nick Orr Suhn K. Rhie Elio Ríboli Heather Spencer Feigelson Loı̈c Le Marchand Julie E. Buring Diana Eccles Penelope Miron Peter A. Fasching Hiltrud Brauch Jenny Chang‐Claude Jane Carpenter Andrew K. Godwin Heli Nevanlinna Graham G. Giles Angela Cox John L. Hopper Manjeet K. Bolla Qin Wang Joe Dennis Ed Dicks Will J Howat Nils Schoof Stig E. Bojesen Diether Lambrechts Annegien Broeks Irene L. Andrulis Pascal Guénel Barbara Burwinkel Elinor J. Sawyer Antoinette Hollestelle Olivia Fletcher Robert Winqvist Hermann Brenner Graham J. Mann Ute Hamann Alfons Meindl Annika Lindblom Wei Zheng Peter Devillee Mark S. Goldberg Jan Lubiński Vessela N. Kristensen Anthony J. Swerdlow Hoda Anton‐Culver Thilo Dörk Kenneth Muir Keitaro Matsuo Anna H. Wu Paolo Radice Soo‐Hwang Teo Xiao‐Ou Shu William J. Blot Daehee Kang Mikael Hartman Suleeporn Sangrajrang Chen‐Yang Shen Melissa C. Southey Daniel J. Park Fleur Hammet Jennifer Stone Laura J. van’t Veer Emiel J. Rutgers Artitaya Lophatananon Sarah Stewart‐Brown Pornthep Siriwanarangsan Julian Peto Michael Schrauder Arif B. Ekici Matthias W. Beckmann Isabel dos‐Santos‐Silva Nichola Johnson Helen R. Warren Ian Tomlinson Michael J. Kerin Nicola Miller F Marmé Andreas Schneeweiß Christof Sohn Thérèse Truong Pierre Laurent–Puig Pierre Kerbrat Børge G. Nordestgaard Sune F. Nielsen Henrik Flyger Roger L. Milne José Ignacio Arias Pérez Primitiva Menéndez Heiko Müller Volker Arndt Christa Stegmaier Peter Lichtner Magdalena Lochmann Christina Justenhoven

10.1038/ng.2561 article EN Nature Genetics 2013-03-27
 The 70-gene prognosis-signature predicts disease outcome in breast cancer patients with 1–3 positive lymph nodes in an independent validation study
OPENALEX - Publications 
Stella Mook Marjanka K. Schmidt Giuseppe Viale Giancarlo Pruneri I. Eekhout and 7 more Arno Floore Annuska M. Glas Jan Bogaerts Fátima Cardoso Martine Piccart Emiel J. Rutgers Laura J. van’t Veer

10.1007/s10549-008-0130-2 article EN Breast Cancer Research and Treatment 2008-07-26
 Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types
OPENALEX - Publications 
Siân Jones Meng Li D. Williams Parsons Xiaosong Zhang Jelle Wesseling and 16 more Petra Kristel Marjanka K. Schmidt Sanford D. Markowitz Hai Yan Darell D. Bigner Ralph H. Hruban James R. Eshleman Christine A. Iacobuzio‐Donahue Michael Goggins Anirban Maitra Sami N. Malek Steve M. Powell Bert Vogelstein Kenneth W. Kinzler Victor E. Velculescu Nickolas Papadopoulos

Mutations in the chromatin remodeling gene ARID1A have recently been identified majority of ovarian clear cell carcinomas (OCCCs). To determine prevalence mutations other tumor types, we evaluated 759 malignant neoplasms including those pancreas, breast, colon, stomach, lung, prostate, brain, and blood (leukemias). We truncating 6% studied; nontruncating somatic were an additional 0.4% neoplasms. most commonly found gastrointestinal samples with 12 119 (10%) colorectal 10 100 gastric...

10.1002/humu.21633 article EN Human Mutation 2011-10-18
 Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent
OPENALEX - Publications 
Yan Guo Shaneda Warren Andersen Xiao‐Ou Shu Kyriaki Michailidou Manjeet K. Bolla and 95 more Qin Wang Montserrat García‐Closas Roger L. Milne Marjanka K. Schmidt Jenny Chang‐Claude Alison M. Dunning Stig E. Bojesen Habibul Ahsan Kristiina Aittomäki Irene L. Andrulis Hoda Anton‐Culver Volker Arndt Matthias W. Beckmann Alicia Beeghly‐Fadiel Javier Benı́tez Natalia Bogdanova Bernardo Bonanni Anne‐Lise Børresen‐Dale Judith S. Brand Hiltrud Brauch Hermann Brenner Thomas Brüning Barbara Burwinkel Graham Casey Georgia Chenevix‐Trench Fergus J. Couch Angela Cox Simon S. Cross Kamila Czene Peter Devilee Thilo Dörk Martine Dumont Peter A. Fasching Jonine D. Figueroa Dieter Flesch‐Janys Olivia Fletcher Henrik Flyger Florentia Fostira Marilie D. Gammon Graham G. Giles Pascal Guénel Christopher A. Haiman Ute Hamann Maartje J. Hooning John L. Hopper Anna Jakubowska Farzana Jasmine Mark A. Jenkins Esther M. John Nichola Johnson Michael E. Jones Maria Kabisch Muhammad G. Kibriya Julia A. Knight Linetta B. Koppert Veli‐Matti Kosma Vessela N. Kristensen Loı̈c Le Marchand Eunjung Lee Jingmei Li Annika Lindblom Robert Luben Jan Lubiński Kathi Malone Graham J. Mann Sara Margolin Frederik Marmé Catriona McLean Hanne Meijers‐Heijboer Alfons Meindl Susan L. Neuhausen Heli Nevanlinna Patrick Neven Janet E. Olson José Ignacio Arias Pérez Barbara Perkins Paolo Peterlongo Kelly‐Anne Phillips Katri Pylkäs Anja Rudolph Regina M. Santella Elinor J. Sawyer Rita K. Schmutzler Caroline Seynaeve Mitul Shah Martha J. Shrubsole Melissa C. Southey Anthony J. Swerdlow Amanda E. Toland Ian Tomlinson Diana Torres Thérèse Truong Giske Ursin Rob B. van der Luijt Senno Verhoef

Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased postmenopausal women. It unclear whether this association mediated through shared genetic or environmental factors.

10.1371/journal.pmed.1002105 article EN cc-by PLoS Medicine 2016-08-23
 An updated PREDICT breast cancer prognostication and treatment benefit prediction model with independent validation
OPENALEX - Publications 
Francisco José Cândido dos Reis Gordon Wishart Ed Dicks David Greenberg Jem Rashbass and 8 more Marjanka K. Schmidt Alexandra J. van den Broek Ian O. Ellis Andrew R. Green Emad A. Rakha Tom Maishman Diana Eccles Paul D.P. Pharoah

PREDICT is a breast cancer prognostic and treatment benefit model implemented online. The overall fit of the has been good in multiple independent case series, but shown to underestimate specific mortality women diagnosed under age 40. Another limitation use discrete categories for tumour size node status resulting 'step' changes risk estimates on moving between categories. We have refitted using original cohort cases from East Anglia with updated survival time order take into account at...

10.1186/s13058-017-0852-3 article EN cc-by Breast Cancer Research 2017-05-22
 Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers
OPENALEX - Publications 
Juliet D. French Maya Ghoussaini Stacey L. Edwards Kerstin B. Meyer Kyriaki Michailidou and 95 more Shahana Ahmed Sofia Khan Mel Maranian Martin O’Reilly Kristine M. Hillman Joshua A. Betts Thomas Carroll Peter J. Bailey Ed Dicks Jonathan Beesley Jonathan P. Tyrer Ana-Teresa Maia Andrew Beck Nicholas Knoblauch Constance Chen Peter Kraft Daniel R. Barnes Anna González‐Neira M. Rosario Alonso Daniel Herrero Daniel C. Tessier Daniel Vincent François Bacot Craig Luccarini Caroline Baynes Don Conroy Joe Dennis Manjeet K. Bolla Qin Wang John L. Hopper Melissa C. Southey Marjanka K. Schmidt Annegien Broeks Senno Verhoef Sten Cornelissen Kenneth Muir Artitaya Lophatananon Sarah Stewart‐Brown Pornthep Siriwanarangsan Peter A. Fasching Christian R. Loehberg Arif B. Ekici Matthias W. Beckmann Julian Peto Isabel dos‐Santos‐Silva Nichola Johnson Zoe Aitken Elinor J. Sawyer Ian Tomlinson Michael J. Kerin Nicola Miller Frederik Marmé Andreas Schneeweiß Christof Sohn Barbara Burwinkel Pascal Guénel Thérèse Truong Pierre Laurent–Puig F. Ménégaux Stig E. Bojesen Børge G. Nordestgaard Sune F. Nielsen Henrik Flyger Roger L. Milne M. Pilar Zamora José Ignacio Arias Pérez Javier Benı́tez Hoda Anton‐Culver Hermann Brenner Heiko Müller Volker Arndt Christa Stegmaier Alfons Meindl Peter Lichtner Rita K. Schmutzler Christoph Engel Hiltrud Brauch Ute Hamann Christina Justenhoven Kirsimari Aaltonen Päivi Heikkilä Kristiina Aittomäki Carl Blomqvist Keitaro Matsuo Hidemi Ito Hiroji Iwata Aiko Sueta Natalia Bogdanova Natalia Antonenkova Thilo Dörk Annika Lindblom Sara Margolin Graham J. Mann Vesa Kataja Veli-Matti Kosma

10.1016/j.ajhg.2013.01.002 article EN publisher-specific-oa The American Journal of Human Genetics 2013-03-27
 PALB2,CHEK2andATMrare variants and cancer risk: data from COGS
OPENALEX - Publications 
Melissa C. Southey David E. Goldgar Robert Winqvist Katri Pylkäs Fergus J. Couch and 95 more Marc Tischkowitz William D. Foulkes Joe Dennis Kyriaki Michailidou Elizabeth J. van Rensburg Tuomas Heikkinen Heli Nevanlinna John L. Hopper Thilo Dörk Kathleen Claes Jorge S. Reis‐Filho Zhi L. Teo Paolo Radice Irene Catucci Paolo Peterlongo Helen Tsimiklis Fabrice Odefrey James G. Dowty Marjanka K. Schmidt Annegien Broeks Frans B.L. Hogervorst Senno Verhoef Jane Carpenter Christine L. Clarke Rodney J. Scott Peter A. Fasching Lothar Haeberle Arif B. Ekici Matthias W. Beckmann Julian Peto Isabel dos‐Santos‐Silva Olivia Fletcher Nichola Johnson Manjeet K. Bolla Elinor J. Sawyer Ian Tomlinson Michael J. Kerin Nicola Miller F. Marmé Barbara Burwinkel Rongxi Yang Pascal Guénel Thérèse Truong F. Ménégaux Marie-Pierre Sanchez Stig E. Bojesen Sune F. Nielsen Henrik Flyger Javier Benı́tez M. Pilar Zamora José Ignacio Arias Pérez Primitiva Menéndez Hoda Anton‐Culver Susan L. Neuhausen Argyrios Ziogas Christina A. Clarke Hermann Brenner Volker Arndt Christa Stegmaier Hiltrud Brauch Thomas Brüning Yon‐Dschun Ko Taru Muranen Kristiina Aittomäki Carl Blomqvist Natalia Bogdanova Natalia Antonenkova Annika Lindblom Sara Margolin Graham J. Mann Vesa Kataja Veli‐Matti Kosma Jaana M. Hartikainen Amanda B. Spurdle kConFab Investigators Els Wauters Dominiek Smeets Benoit Beuselinck Giuseppe Floris Jenny Chang‐Claude Anja Rudolph Petra Seibold Dieter Flesch‐Janys Janet E. Olson Celine M. Vachon V. Shane Pankratz Catriona McLean Christopher A. Haiman Brian E. Henderson Fredrick R. Schumacher Loı̈c Le Marchand Vessela Kristensen Grethe Grenaker Alnæs Wei Zheng David J. Hunter

The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some these are with breast risk as high those rare BRCA2 mutations. We aimed the relative risks specific variants via a multicentre case-control study.

10.1136/jmedgenet-2016-103839 article EN cc-by Journal of Medical Genetics 2016-09-05
 Impact of the COVID-19 pandemic on diagnosis, stage, and initial treatment of breast cancer in the Netherlands: a population-based study
OPENALEX - Publications 
Anouk H. Eijkelboom Linda de Munck Marie-Jeanne T. F. D. Vrancken Peeters Mireille J. M. Broeders Luc J. A. Strobbe and 15 more Monique E.M.M. Bos Marjanka K. Schmidt Cristina Guerrero Paez Marjolein L. Smidt Maud Bessems Janneke Verloop Sabine C. Linn Marc B.I. Lobbes Aafke H. Honkoop Desirée H. J. G. van den Bongard Pieter J. Westenend Jelle Wesseling C. Willemien Menke‐van der Houven van Oordt Vivianne C. G. Tjan‐Heijnen Sabine Siesling

Abstract Background The onset of the COVID-19 pandemic forced Dutch national screening program to a halt and increased burden on health care services, necessitating introduction specific breast cancer treatment recommendations from week 12 2020. We aimed investigate impact diagnosis, stage initial cancer. Methods Women included in Netherlands Cancer Registry diagnosed during four periods weeks 2–17 2020 were compared with reference data 2018/2019 (averaged). Weekly incidence was calculated...

10.1186/s13045-021-01073-7 article EN cc-by Journal of Hematology & Oncology 2021-04-17
 Prognostic Value of Stromal Tumor-Infiltrating Lymphocytes in Young, Node-Negative, Triple-Negative Breast Cancer Patients Who Did Not Receive (neo)Adjuvant Systemic Therapy
OPENALEX - Publications 
Vincent M. T. de Jong Yuwei Wang Natalie D. ter Hoeve Mark Opdam Nikolas Stathonikos and 31 more Katarzyna Jóźwiak Michael Hauptmann Sten Cornelissen Willem Vreuls Efraim H. Rosenberg Esther A. Koop Zsuzsanna Varga Carolien H.M. van Deurzen Antien L. Mooyaart Alicia Córdoba Emma J. Groen Joost Bart Stefan M. Willems Vasiliki Zolota Jelle Wesseling Anna Sapino Ewa Chmielik Aleš Ryška Annegien Broeks Adri C. Voogd Sherene Loi Stefan Michiels Gabe S. Sonke Elsken van der Wall Sabine Siesling P. J. van Diest Marjanka K. Schmidt Marleen Kok Gwen Dackus Roberto Salgado Sabine C. Linn

Triple-negative breast cancer (TNBC) is considered aggressive, and therefore, virtually all young patients with TNBC receive (neo)adjuvant chemotherapy. Increased stromal tumor-infiltrating lymphocytes (sTILs) have been associated a favorable prognosis in TNBC. However, whether this association holds for who are node-negative (N0), (< 40 years), chemotherapy-naïve, thus can be used chemotherapy de-escalation strategies, unknown.We selected N0 diagnosed between 1989 2000 from Dutch...

10.1200/jco.21.01536 article EN cc-by-nc-nd Journal of Clinical Oncology 2022-03-30
 Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes
OPENALEX - Publications 
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
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