Elinor J. Sawyer

ORCID: 0000-0001-8285-4111
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Research Areas
  • BRCA gene mutations in cancer
  • Breast Cancer Treatment Studies
  • Genetic Associations and Epidemiology
  • Cancer Genomics and Diagnostics
  • Breast Lesions and Carcinomas
  • Genetic factors in colorectal cancer
  • Nutrition, Genetics, and Disease
  • Estrogen and related hormone effects
  • Global Cancer Incidence and Screening
  • HER2/EGFR in Cancer Research
  • Gene expression and cancer classification
  • Genomics and Chromatin Dynamics
  • Bioinformatics and Genomic Networks
  • Genomic variations and chromosomal abnormalities
  • Epigenetics and DNA Methylation
  • Cytokine Signaling Pathways and Interactions
  • Cancer Risks and Factors
  • Cancer and Skin Lesions
  • RNA modifications and cancer
  • Advanced Breast Cancer Therapies
  • Cancer-related Molecular Pathways
  • COVID-19 and healthcare impacts
  • Genomics and Rare Diseases
  • Molecular Biology Techniques and Applications
  • Advanced Radiotherapy Techniques

King's College London
2016-2025

Guy's and St Thomas' NHS Foundation Trust
2014-2024

Breast Cancer Now
2002-2024

Guy's Hospital
2013-2023

St Thomas' Hospital
1997-2023

The London College
2018-2023

St. Thomas Hospital
2023

Cancer Research Center
2010-2021

London Cancer
2018-2021

University of Manchester
2018-2021

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

BackgroundWe aimed to identify a five-fraction schedule of adjuvant radiotherapy (radiation therapy) delivered in 1 week that is non-inferior terms local cancer control and as safe an international standard 15-fraction regimen after primary surgery for early breast cancer. Here, we present 5-year results the FAST-Forward trial.MethodsFAST-Forward multicentre, phase 3, randomised, non-inferiority trial done at 97 hospitals (47 centres 50 referring hospitals) UK. Patients aged least 18 years...

10.1016/s0140-6736(20)30932-6 article EN cc-by The Lancet 2020-04-28
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
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
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

Patterns of genomic evolution between primary and metastatic breast cancer have not been studied in large numbers, despite patients with having dismal survival. We sequenced whole genomes or a panel 365 genes on 299 samples from 170 locally relapsed cancer. Several lines analysis indicate that clones seeding metastasis relapse disseminate late tumors, but continue to acquire mutations, mostly accessing the same mutational processes active tumor. Most distant metastases acquired driver...

10.1016/j.ccell.2017.07.005 article EN cc-by Cancer Cell 2017-08-01
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
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

A family history of prostate cancer (PrCa) is a strong risk factor for the disease, indicating that inherited factors are important in this disease. We previously estimated about 2% PrCa cases diagnosed ≤ 55 years harbour BRCA2 mutation and among carriers has been shown to be more aggressive, with poorer survival.To further evaluate role predisposition, we screened 1864 men aged between 36 88 years. analysed gene using novel high-throughput multiplex fluorescence heteroduplex detection...

10.1038/bjc.2011.383 article EN cc-by-nc-sa British Journal of Cancer 2011-09-27
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
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
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
Siddhartha Kar Jonathan Beesley Ali Amin Al Olama Kyriaki Michailidou Jonathan P. Tyrer and 95 more Zsofia Kote‐Jarai Kate Lawrenson Sara Lindström Susan J. Ramus Deborah J. Thompson Adam S. Kibel Agnieszka Dansonka‐Mieszkowska Agnieszka Michael Aida Karina Dieffenbach Aleksandra Gentry‐Maharaj Alice S. Whittemore Alicja Wolk Álvaro N.A. Monteiro Ana Peixoto Andrzej Kierzek Angela Cox Anja Rudolph Anna González‐Neira Anna H. Wu Annika Lindblom Anthony J. Swerdlow Argyrios Ziogas Arif B. Ekici Barbara Burwinkel Beth Y. Karlan Børge G. Nordestgaard Carl Blomqvist Catherine Phelan Catriona McLean Celeste Leigh Pearce Celine M. Vachon Cezary Cybulski Chavdar Slavov Christa Stegmaier Christiane Maier Christine B. Ambrosone Claus Høgdall Craig C. Teerlink Daehee Kang Daniel C. Tessier Daniel J. Schaid Daniel O. Stram Daniel W. Cramer David E. Neal Diana Eccles Dieter Flesch‐Janys Digna R. Velez Edwards Dominika Wokozorczyk Douglas A. Levine Drakoulis Yannoukakos Elinor J. Sawyer Elisa V. Bandera Elizabeth M. Poole Ellen L. Goode Э. К. Хуснутдинова Estrid Høgdall Fengju Song Fiona Bruinsma Florian Heitz Francesmary Modugno Freddie C. Hamdy Fredrik Wiklund Graham G. Giles Håkan Olsson Hans Wildiers Hans-Ulrich Ulmer Hardev Pandha Harvey A. Risch Hatef Darabi Helga B. Salvesen Heli Nevanlinna Henrik Grönberg Hermann Brenner Hiltrud Brauch Hoda Anton‐Culver Honglin Song Hui-Yi Lim Iain A. McNeish Ian Campbell Ignace Vergote Jacek Gronwald Jan Lubiński Janet L. Stanford Javier Benı́tez Jennifer A. Doherty Jennifer B. Permuth Jenny Chang‐Claude Jenny Donovan Joe Dennis Joellen M. Schildkraut Johanna Schleutker John L. Hopper Jolanta Kupryjańczyk Jong Y. Park Jonine D. Figueroa

Abstract Breast, ovarian, and prostate cancers are hormone-related may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining the largest GWA meta-analysis data sets for these totaling 112,349 cases 116,421 controls of European ancestry, all together in pairs, identified at P < 10−8 seven new cross-cancer loci: three associated with susceptibility to (rs17041869/2q13/BCL2L11;...

10.1158/2159-8290.cd-15-1227 article EN Cancer Discovery 2016-07-19
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

Abstract The cell adhesion glycoprotein E-cadherin (CDH1) is commonly inactivated in breast tumors. Precision medicine approaches that exploit this characteristic are not available. Using perturbation screens tumor cells with CRISPR/Cas9-engineered CDH1 mutations, we identified synthetic lethality between deficiency and inhibition of the tyrosine kinase ROS1. Data from large-scale genetic molecularly diverse lines established E-cadherin/ROS1 was only robust face considerable molecular...

10.1158/2159-8290.cd-17-0603 article EN Cancer Discovery 2018-04-01

Abstract Triple-negative breast cancers are an aggressive subtype of cancer with poor survival, but there remains little known about the etiologic factors that promote its initiation and development. Commonly inherited risk identified through genome-wide association studies display heterogeneity effect among subtypes as defined by status estrogen progesterone receptors. In Triple Negative Breast Cancer Consortium (TNBCC), 22 common susceptibility variants were investigated in 2,980 Caucasian...

10.1158/0008-5472.can-11-1266 article EN Cancer Research 2011-08-16
Maya Ghoussaini Stacey L. Edwards Kyriaki Michailidou Silje Nord Richard Cowper‐Sal·lari and 95 more Kinjal Desai Siddhartha Kar Kristine M. Hillman Susanne Kaufmann Dylan M. Glubb Jonathan Beesley Joe Dennis Manjeet K. Bolla Qin Wang Ed Dicks Qi Guo Marjanka K. Schmidt Mitul Shah Robert Luben Judith Brown Kamila Czene Hatef Darabi Mikael Eriksson Daniel Klevebring Stig E. Bojesen Børge G. Nordestgaard Sune F. Nielsen Henrik Flyger Diether Lambrechts Bernard Thienpont Patrick Neven Hans Wildiers Annegien Broeks Laura J. van’t Veer Emiel J. Rutgers Fergus J. Couch Janet E. Olson Emily Hallberg Celine M. Vachon Jenny Chang‐Claude Anja Rudolph Petra Seibold Dieter Flesch‐Janys Julian Peto Isabel dos‐Santos‐Silva Lorna J. Gibson Heli Nevanlinna Taru Muranen Kristiina Aittomäki Carl Blomqvist Per Hall Jingmei Li Jianjun Liu Keith Humphreys Daehee Kang Ji‐Yeob Choi Sue K. Park Dong‐Young Noh Keitaro Matsuo Hidemi Ito Hiroji Iwata Yasushi Yatabe Pascal Guénel Thérèse Truong F. Ménégaux Marie-Pierre Sanchez Barbara Burwinkel Frederik Marmé Andreas Schneeweiß Christof Sohn Anna H. Wu Chiu-Chen Tseng David Van Den Berg Daniel O. Stram Javier Benı́tez M. Pilar Zamora José Ignacio Arias Pérez Primitiva Menéndez Xiao‐Ou Shu Wei Lu Yu-Tang Gao Qiuyin Cai Angela Cox Simon S. Cross Malcolm Reed Irene L. Andrulis Julia A. Knight Gord Glendon Sandrine Tchatchou Elinor J. Sawyer Ian Tomlinson Michael J. Kerin Nicola Miller Christopher A. Haiman Brian E. Henderson Fredrick R. Schumacher Loı̈c Le Marchand Annika Lindblom Sara Margolin Soo‐Hwang Teo

10.1038/ncomms5999 article EN Nature Communications 2014-09-23
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