Anna Jakubowska

ORCID: 0000-0002-5650-0501
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Research Areas
  • BRCA gene mutations in cancer
  • Ovarian cancer diagnosis and treatment
  • Genetic Associations and Epidemiology
  • Genetic factors in colorectal cancer
  • Nutrition, Genetics, and Disease
  • Cancer Genomics and Diagnostics
  • DNA Repair Mechanisms
  • Genomic variations and chromosomal abnormalities
  • CRISPR and Genetic Engineering
  • RNA modifications and cancer
  • Trace Elements in Health
  • Selenium in Biological Systems
  • PARP inhibition in cancer therapy
  • Breast Cancer Treatment Studies
  • Genomics and Chromatin Dynamics
  • Cancer-related molecular mechanisms research
  • Heavy Metal Exposure and Toxicity
  • Bioinformatics and Genomic Networks
  • Estrogen and related hormone effects
  • Cancer Risks and Factors
  • Epigenetics and DNA Methylation
  • Genetics, Bioinformatics, and Biomedical Research
  • Cancer-related Molecular Pathways
  • Molecular Biology Techniques and Applications
  • Virus-based gene therapy research

Pomeranian Medical University
2016-2025

International Hereditary Cancer Center
2015-2024

Medical University of Silesia
2024

University of Economics in Katowice
2024

Wienerberger (Czechia)
2024

University of Zielona Góra
2022

Cancer Research Center
2010-2021

Carrier (United States)
2021

Cohort (United Kingdom)
2021

University of Manchester
2021

<h3>Importance</h3> The clinical management of<i>BRCA1</i>and<i>BRCA2</i>mutation carriers requires accurate, prospective cancer risk estimates. <h3>Objectives</h3> To estimate age-specific risks of breast, ovarian, and contralateral breast for mutation to evaluate modification by family history location. <h3>Design, Setting, Participants</h3> Prospective cohort study 6036<i>BRCA1</i>and 3820<i>BRCA2</i>female (5046 unaffected 4810 with or ovarian both at baseline) recruited in 1997-2011...

10.1001/jama.2017.7112 article EN JAMA 2017-06-20
Ganna Chornokur Hui‐Yi Lin Jonathan P. Tyrer Kate Lawrenson Joe Dennis and 95 more Ernest K. Amankwah Xiaotao Qu Ya-Yu Tsai Heather Jim Zhihua Chen Y. Ann Chen Jennifer Permuth‐Wey Katja K.H. Aben Hoda Anton‐Culver Natalia Antonenkova Fiona Bruinsma Elisa V. Bandera Yukie T. Bean Matthias W. Beckmann Maria Bisogna Line Bjørge Natalia Bogdanova Louise A. Brinton Angela Brooks‐Wilson Clareann H. Bunker Ralf Bützow Ian Campbell Karen Carty Jenny Chang‐Claude Linda S. Cook Daniel W. Cramer Julie M. Cunningham Cezary Cybulski Agnieszka Dansonka‐Mieszkowska Andreas du Bois Evelyn Despierre Ed Dicks Jennifer A. Doherty Thilo Dörk Matthias Dürst Douglas F. Easton Diana Eccles Robert P. Edwards Arif B. Ekici Peter A. Fasching Brooke L. Fridley Yu‐Tang Gao Aleksandra Gentry‐Maharaj Graham G. Giles Rosalind Glasspool Marc T. Goodman Jacek Gronwald Patricia Harrington Philipp Harter Alexander Hein Florian Heitz Michelle A.T. Hildebrandt Peter Hillemanns Claus Høgdall Estrid Høgdall Satoyo Hosono Anna Jakubowska Allan Jensen Bu‐Tian Ji Beth Y. Karlan Linda E. Kelemen Mellissa Kellar Lambertus A. Kiemeney Camilla Krakstad Susanne K. Kjær Jolanta Kupryjańczyk Diether Lambrechts Sandrina Lambrechts Nhu D. Le Alice W. Lee Shashi Lele Arto Leminen Jenny Lester Douglas A. Levine Dong Liang Boon Kiong Lim Jolanta Lissowska Karen H. Lu Jan Lubiński Lene Lundvall Leon F.A.G. Massuger Keitaro Matsuo Valerie McGuire Esther M. John Iain A. McNeish Usha Menon Roger L. Milne Francesmary Modugno Kirsten B. Moysich Roberta B. Ness Heli Nevanlinna Ursula Eilber Kunle Odunsi Sara H. Olson Irene Orlow

Background Defective cellular transport processes can lead to aberrant accumulation of trace elements, iron, small molecules and hormones in the cell, which turn may promote formation reactive oxygen species, promoting DNA damage expression key regulatory cancer genes. As uncontrolled proliferation are hallmarks cancer, including epithelial ovarian (EOC), we hypothesized that inherited variation genes contributes EOC risk. Methods In total, samples were obtained from 14,525 case subjects...

10.1371/journal.pone.0128106 article EN cc-by PLoS ONE 2015-06-19
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
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
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
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
Fergus J. Couch Xianshu Wang Lesley McGuffog Andrew Lee Curtis Olswold and 95 more Karoline B. Kuchenbaecker Penny Soucy Zachary Fredericksen Daniel Barrowdale Joe Dennis Mia M. Gaudet Ed Dicks Matthew Kosel Sue Healey Olga M. Sinilnikova Adam F. Lee François Bacot Daniel Vincent Frans B. L. Hogervorst Susan Peock D Stoppa-Lyonnet Anna Jakubowska kConFab Investigators Paolo Radice Rita Katharina Schmutzler Susan M. Domchek Marion Piedmonte Christian F. Singer Eitan Friedman Mads Thomassen Thomas van Overeem Hansen Susan L. Neuhausen Csilla I. Szabo Ignacio Blanco Mark H. Greene Beth Karlan Judy E. Garber Catherine M. Phelan Jeffrey N. Weitzel Marco Montagna Edith Olah Irene L. Andrulis Andrew K. Godwin Drakoulis Yannoukakos David E. Goldgar Trinidad Caldés Heli Nevanlinna Ana Osório Mary Beth Terry Mary B. Daly Elizabeth J. van Rensburg Ute Hamann Susan J. Ramus Amanda Ewart Toland Maria A. Caligo Olufunmilayo I. Olopade Nadine Tung Kathleen Claes Mary Beattie Melissa C. Southey Evgeny N. Imyanitov Marc Tischkowitz Ramūnas Janavičius Esther M. John Ava Kwong Orland Dı́ez Judith Balmañà Rósa B. Barkardóttir Banu K. Arun Gad Rennert Soo‐Hwang Teo Patricia A. Ganz Ian Campbell Annemarie H. van der Hout Carolien H.M. van Deurzen Caroline Seynaeve E. Gómez Flora E. van Leeuwen Hanne Meijers‐Heijboer Gilles Thomas Margreet G. E. M. Ausems Marinus J. Blok Marjolijn J. L. Ligtenberg Matti A. Rookus Peter Devilee Senno Verhoef Theo A.M. van Os Juul T. Wijnen D Frost Ian O. Ellis Elena Fineberg Radka Platte D. Gareth Evans Louise Izatt Rosalind A. Eeles Julian Adlard Diana Eccles Jackie Cook Carole Brewer Fiona Douglas

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with 1,839 cancer), replication in an additional sample 2,646 carriers. We identified novel risk modifier locus at 1q32 for (rs2290854, P = 2.7×10−8, HR 1.14, 95% CI: 1.09–1.20). In addition, two loci: 17q21.31 (rs17631303, 1.4×10−8, 1.27, 1.17–1.38) 4q32.3 (rs4691139,...

10.1371/journal.pgen.1003212 article EN cc-by PLoS Genetics 2013-03-27
Paul D.P. Pharoah Ya-Yu Tsai Susan J. Ramus Catherine M. Phelan Ellen L. Goode and 95 more Kate Lawrenson Melissa A. Buckley Brooke L. Fridley Jonathan P. Tyrer Howard C. Shen Rachel Palmieri Weber Rod Karevan Melissa C. Larson Honglin Song Daniel C. Tessier François Bacot Daniel Vincent Julie M. Cunningham Joe Dennis Ed Dicks Katja K.H. Aben Hoda Anton‐Culver Natalia Antonenkova Sebastian M. Armasu Laura Baglietto Elisa V. Bandera Matthias W. Beckmann Michael J. Birrer Greg Bloom Natalia Bogdanova James D. Brenton Louise A. Brinton Angela Brooks‐Wilson Robert Brown Ralf Bützow Ian Campbell Michael E. Carney Renato S. Carvalho Jenny Chang‐Claude Y Anne Chen Zhihua Chen Wong‐Ho Chow Mine Cicek Gerhard A. Coetzee Linda S. Cook Daniel W. Cramer Cezary Cybulski Agnieszka Dansonka‐Mieszkowska Evelyn Despierre Jennifer A. Doherty Thilo Dörk Andreas du Bois Matthias Dürst Diana Eccles Robert P. Edwards Arif B. Ekici Peter A. Fasching David Fenstermacher James M. Flanagan Yu-Tang Gao Montserrat García‐Closas Aleksandra Gentry‐Maharaj Graham G. Giles Anxhela Gjyshi Martin Gore Jacek Gronwald Qi Guo Mari K. Halle Philipp Harter Alexander Hein Florian Heitz Peter Hillemanns Maureen E. Hoatlin Estrid Høgdall Claus Høgdall Satoyo Hosono Anna Jakubowska Allan Jensen Kimberly R. Kalli Beth Y. Karlan Linda E. Kelemen Lambertus A. Kiemeney Susanne K. Kjær Gottfried E. Konecny Camilla Krakstad Jolanta Kupryjańczyk Diether Lambrechts Sandrina Lambrechts Nhu D. Le Nathan Lee Janet Lee Arto Leminen Boon Kiong Lim Jolanta Lissowska Jan Lubiński Lene Lundvall Galina Lurie Leon F.A.G. Massuger Keitaro Matsuo Valerie McGuire

10.1038/ng.2564 article EN Nature Genetics 2013-03-27

10.1038/ng.668 article EN Nature Genetics 2010-09-19
Antonis C. Antoniou Xianshu Wang Zachary S Fredericksen Lesley McGuffog Robert F. Tarrell and 95 more Olga M. Sinilnikova Sue Healey Jonathan J. Morrison Christiana Kartsonaki Timothy G. Lesnick Maya Ghoussaini Daniel Barrowdale Susan Peock Margaret Cook Clare Oliver Debra Frost Diana Eccles D. Gareth Evans Rosalind A. Eeles Louise Izatt Carol Chu Fiona Douglas J. Paterson Dominique Stoppa-Lyonnet Claude Houdayer Sylvie Mazoyer Sophie Giraud Christine Lasset Audrey Remenieras Olivier Caron Agnès Hardouin Pascaline Berthet Frans B.L. Hogervorst Matti A. Rookus Agnes Jager Ans van den Ouweland Nicoline Hoogerbrugge Rob B. van der Luijt Hanne Meijers‐Heijboer E. Gómez Peter Devilee Maaike P.G. Vreeswijk Jan Lubiński Anna Jakubowska Jacek Gronwald Tomasz Huzarski Tomasz Byrski Bohdan Górski Cezary Cybulski Amanda B. Spurdle Helene Holland David E. Goldgar Esther M. John John L. Hopper Melissa C. Southey Saundra S. Buys Mary B. Daly Mary Beth Terry Rita K. Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Sabine Preisler‐Adams Norbert Arnold Dieter Niederacher Christian Sutter Susan M. Domchek Katherine L. Nathanson Timothy R. Rebbeck Joanne L. Blum Marion Piedmonte Gustavo C. Rodriguez Katie Wakeley John F. Boggess Jack Basil Stephanie V. Blank Eitan Friedman Bella Kaufman Yael Laitman Roni Milgrom Irene L. Andrulis Gord Glendon Hilmi Özçelik Tomas Kirchhoff Joseph Vijai Mia M. Gaudet David Altshuler Candace Guiducci Niklas Loman Katja Harbst Johanna Rantala Hans Ehrencrona Anne–Marie Gerdes Mads Thomassen Lone Sunde Paolo Peterlongo Siranoush Manoukian Bernardo Bonanni Alessandra Viel Paolo Radice

10.1038/ng.669 article EN Nature Genetics 2010-09-19

10.1038/ng.424 article EN Nature Genetics 2009-08-02
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
Kelly L. Bolton Jonathan P. Tyrer Honglin Song Susan J. Ramus Maria Notaridou and 95 more Chris Jones Tanya Sher Aleksandra Gentry‐Maharaj Eva Wozniak Ya-Yu Tsai Joanne B. Weidhaas Daniel Y. Paik David J. Van Den Berg Daniel O. Stram Celeste Leigh Pearce Anna H. Wu Wendy R. Brewster Hoda Anton‐Culver Argyrios Ziogas Steven A. Narod Douglas A. Levine Stanley B. Kaye Robert Brown James Paul James M. Flanagan Weiva Sieh Valerie McGuire Alice S. Whittemore Ian Campbell Martin Gore Jolanta Lissowska Hanna Yang Krzysztof Mędrek Jacek Gronwald Jan Lubiński Anna Jakubowska Nhu D. Le Linda S. Cook Linda E. Kelemen Angela Brooks‐Wilson Leon F.A.G. Massuger Lambertus A. Kiemeney Katja K.H. Aben Anne M. van Altena Richard S. Houlston Ian Tomlinson Rachel T. Palmieri Patricia G. Moorman Joellen M. Schildkraut Edwin S. Iversen Catherine Phelan Robert A. Vierkant Julie M. Cunningham Ellen L. Goode Brooke L. Fridley Susan Kruger-Kjaer Jan Blaeker Estrid Høgdall Claus Høgdall Jenny Gross Beth Y. Karlan Roberta B. Ness Robert P. Edwards Kunle Odunsi Kirsten B Moyisch Julie Baker Francesmary Modugno Tuomas Heikkinen Ralf Butzow Heli Nevanlinna Arto Leminen Natalia Bogdanova Natalia Antonenkova Thilo Doerk Peter Hillemanns Matthias Dürst Ingo B. Runnebaum Pamela J. Thompson Michael E. Carney Marc T. Goodman Galina Lurie Shan Wang‐Gohrke Rebecca Hein Jenny Chang‐Claude Mary Anne Rossing Kara L. Cushing‐Haugen Jennifer A. Doherty Chu Chen Thorunn Rafnar Søren Besenbacher Patrick Sulem Kari Stefansson Michael J. Birrer Kathryn L. Terry Dena Hernández Daniel W. Cramer Ignace Vergote Frédéric Amant Diether Lambrechts Evelyn Despierre

10.1038/ng.666 article EN Nature Genetics 2010-09-19

To estimate the risk of breast cancer in a woman who has CHEK2 mutation depending on her family history cancer.Seven thousand four hundred ninety-four BRCA1 mutation-negative patients with and 4,346 control women were genotyped for founder mutations (del5395, IVS2+1G>A, 1100delC, I157T).A truncating (IVS2+1G>A, or del5395) was present 227 (3.0%) 37 female controls (0.8%; odds ratio [OR], 3.6; 95% CI, 2.6 to 5.1). The OR higher first- second-degree relative (OR, 5.0; 3.3 7.6) than no 3.3; 2.3...

10.1200/jco.2010.34.0778 article EN Journal of Clinical Oncology 2011-08-30
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

10.1086/522611 article EN publisher-specific-oa The American Journal of Human Genetics 2007-12-01

Abstract Three mutations in BRCA1 (5382insC, C61G and 4153delA) are common Poland account for the majority of identified to date Polish breast breast–ovarian cancer families. It is not known, however, what extent these 3 founder all BRCA distributed throughout country. This question has important implications health policy design epidemiologic studies. To establish relative contributions nonfounder mutations, we established entire spectrum BRCA2 a large set families with origins regions...

10.1002/ijc.20162 article EN International Journal of Cancer 2004-03-15
Christopher A. Maxwell Javier Benítez Laia Gómez‐Baldó Ana Osório Núria Bonifaci and 95 more Ricardo Fernández‐Ramires Sylvain V. Costes Elisabet Guinó Helen Chen Gareth J. R. Evans Pooja Mohan Isabel Català Anna Petit Helena Aguilar Alberto Villanueva Àlvaro Aytés Jordi Serra-Musach Gad Rennert Flavio Lejbkowicz Paolo Peterlongo Siranoush Manoukian Bernard Peissel Carla B. Ripamonti Bernardo Bonanni Alessandra Viel Anna Allavena Loris Bernard Paolo Radice Eitan Friedman Bella Kaufman Yael Laitman Maya Dubrovsky Roni Milgrom Anna Jakubowska Cezary Cybulski Bohdan Górski Katarzyna Jaworska Katarzyna Durda Grzegorz Sukiennicki Jan Lubiński Yin Yao Shugart Susan M. Domchek Richard Letrero Barbara L. Weber Frans B.L. Hogervorst Matti A. Rookus J. Margriet Collée Peter Devilee Marjolijn J. L. Ligtenberg Rob B. van der Luijt Cora M. Aalfs Quinten Waisfisz Juul Wijnen C. E. P. van Roozendaal Douglas F. Easton Susan Peock Margaret Cook Clare Oliver Debra Frost Patricia Harrington D. Gareth Evans Fiona Lalloo Rosalind A. Eeles Louise Izatt Carol Chu Diana Eccles Fiona Douglas Carole Brewer Heli Nevanlinna Tuomas Heikkinen Fergus J. Couch Noralane M. Lindor Xianshu Wang Andrew K. Godwin Maria A. Caligo Grazia Lombardi Niklas Loman Per Karlsson Hans Ehrencrona Anna von Wachenfeldt Rósa B. Barkardóttir Ute Hamann Muhammad Usman Rashid Adriana Lasa Miguel de la Hoya Raquel Andrés Michael Schmitt Volker Assmann Kristen N. Stevens Kenneth Offit João Curado Hagen Tilgner Roderic Guigó Gemma Aiza Joan Brunet Joan Castellsagué Griselda Martrat Ander Urruticoechea Ignacio Blanco Laima Tihomirova

Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark breast carcinogenesis. In BRCA1 mutation carriers, accumulation stem progenitor cells in normal increased risk developing tumors basal-like type suggest that regulates stem/progenitor cell proliferation differentiation. However, the function this process its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving RHAMM polarity and, when perturbed,...

10.1371/journal.pbio.1001199 article EN cc-by PLoS Biology 2011-11-15
Antonis C. Antoniou Jonathan Beesley Lesley McGuffog Olga M. Sinilnikova Sue Healey and 95 more Susan L. Neuhausen Yuan Chun Ding Timothy R. Rebbeck Jeffrey N. Weitzel Henry T. Lynch Claudine Isaacs Patricia A. Ganz Gail E. Tomlinson Olufunmilayo I. Olopade Fergus J. Couch Xianshu Wang Noralane M. Lindor V. Shane Pankratz Paolo Radice Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Monica Barile Alessandra Viel Anna Allavena Valentina Dall’Olio Paolo Peterlongo Csilla I. Szabo Michal Zikán Kathleen Claes Bruce Poppe Lenka Foretová L. Phuong Mark H. Greene Gad Rennert Flavio Lejbkowicz Gord Glendon Hilmi Özçelik Irene L. Andrulis Mads Thomassen Anne–Marie Gerdes Lone Sunde Dorthe Gylling Crüger Uffe Birk Jensen Maria A. Caligo Eitan Friedman Bella Kaufman Yael Laitman Roni Milgrom Maya Dubrovsky Shimrit Cohen Åke Borg Helena Jernström Annika Lindblom Johanna Rantala Marie Stenmark-Askmalm Beatrice Melin Katherine L. Nathanson Susan M. Domchek Anna Jakubowska Jan Lubiński Tomasz Huzarski Ana Osório Adriana Lasa M. Durán María‐Isabel Tejada Javier Godino Javier Benı́tez Ute Hamann Mieke Kriege Nicoline Hoogerbrugge Rob B. van der Luijt Christi J. van Asperen Peter Devilee E.J. Meijers-Heijboer Marinus J. Blok Cora M. Aalfs Frans B.L. Hogervorst Matti A. Rookus Margaret Cook Clare Oliver Debra Frost Don Conroy D. Gareth Evans Fiona Lalloo Gabriella Pichert Rosemarie Davidson Trevor Cole Jackie Cook Joan Paterson Shirley Hodgson Patrick J. Morrison Mary Porteous Lisa Walker Michael J. Kennedy Huw Dorkins Susan Peock Andrew K. Godwin Dominique Stoppa‐Lyonnet Antoine De Pauw

Abstract The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of for BRCA1 or BRCA2 mutation carriers. We evaluated the associations 3 additional single nucleotide (SNPs), rs4973768 SLC4A7/NEK10, rs6504950 STXBP4/COX11, rs10941679 at 5p12, reanalyzed previous using carriers a sample 12,525 7,409 Additionally, we investigated potential interactions between SNPs assessed implications risk prediction. minor alleles were...

10.1158/0008-5472.can-10-1907 article EN Cancer Research 2010-12-01

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

To determine whether adjuvant tamoxifen treatment for breast cancer (BC) is associated with reduced contralateral (CBC) risk BRCA1 and/or BRCA2 mutation carriers.Analysis of pooled observational cohort data, self-reported at enrollment and follow-up from the International BRCA1, Carrier Cohort Study, Kathleen Cuningham Foundation Consortium Research into Familial Breast Cancer, Cancer Family Registry. Eligible women were carriers diagnosed unilateral BC since 1970 no other invasive or use...

10.1200/jco.2012.47.8313 article EN Journal of Clinical Oncology 2013-08-06
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