Soo‐Hwang Teo

ORCID: 0000-0002-0444-590X
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Research Areas
  • BRCA gene mutations in cancer
  • Genetic Associations and Epidemiology
  • Nutrition, Genetics, and Disease
  • Global Cancer Incidence and Screening
  • Cancer Genomics and Diagnostics
  • Ovarian cancer diagnosis and treatment
  • Cancer Risks and Factors
  • Cancer-related molecular mechanisms research
  • Genomic variations and chromosomal abnormalities
  • RNA modifications and cancer
  • DNA Repair Mechanisms
  • CRISPR and Genetic Engineering
  • Genomics and Chromatin Dynamics
  • Molecular Biology Techniques and Applications
  • Genetics, Bioinformatics, and Biomedical Research
  • RNA Research and Splicing
  • Genetic factors in colorectal cancer
  • Cancer-related Molecular Pathways
  • Breast Cancer Treatment Studies
  • Epigenetics and DNA Methylation
  • Bioinformatics and Genomic Networks
  • Digital Radiography and Breast Imaging
  • AI in cancer detection
  • Cancer Immunotherapy and Biomarkers
  • Prostate Cancer Treatment and Research

Cancer Research Malaysia
2016-2025

University of Malaya
2016-2025

University Malaya Medical Centre
2013-2024

Subang Jaya Medical Centre
2014-2024

University of Kuala Lumpur
2022-2024

University of Cambridge
1995-2024

University of Nottingham Malaysia Campus
2022

University of Wisconsin–Madison
2022

University of Manchester
2021

St Mary's Hospital
2021

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
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
Timothy R. Rebbeck Tara M. Friebel Eitan Friedman Ute Hamann Dezheng Huo and 95 more Ava Kwong Edith Oláh Olufunmilayo I. Olopade Ángela R. Solano Soo‐Hwang Teo Mads Thomassen Jeffrey N. Weitzel TL Chan Fergus J. Couch David E. Goldgar Torben A. Kruse Edenir Inêz Palmero Sue K. Park Diana Torres Elizabeth J. van Rensburg Lesley McGuffog Michael T. Parsons Goska Leslie Cora M. Aalfs Julio E. Abugattas Julian Adlard Simona Agata Kristiina Aittomäki Lesley Andrews Irene L. Andrulis Aðalgeir Arason Norbert Arnold Banu Arun Ella Asseryanis Leo Auerbach Jacopo Azzollini Judith Balmañà Monica Barile Rósa B. Barkardóttir Daniel Barrowdale Javier Benı́tez Andreas Berger Raanan Berger Amie Blanco Kathleen R. Blazer Marinus J. Blok Valérie Bonadona Bernardo Bonanni Angela R. Bradbury Carole Brewer Bruno Buecher Saundra S. Buys Trinidad Caldés Almuth Caliebe Maria A. Caligo Ian Campbell Sandrine M. Caputo Jocelyne Chiquette Wendy K. Chung Kathleen Claes J. Margriet Collée Jackie Cook Rosemarie Davidson Miguel de la Hoya Kim De Leeneer Antoine De Pauw Capucine Delnatte Orland Dı́ez Yuan Chun Ding Nina Ditsch Susan M. Domchek Cecilia M. Dorfling Carolina Velázquez Bernd Dworniczak Jacqueline Eason Douglas F. Easton Rosalind A. Eeles Hans Ehrencrona Bent Ejlertsen Christoph Engel Stefanie Engert D. Gareth Evans Laurence Faivre Lídia Feliubadaló Sandra Fert Ferrer Lenka Foretová Jeffrey M. Fowler Debra Frost Henrique C.R. Galvão Patricia A. Ganz Judy E. Garber Marion Gauthier‐Villars Andrea Gehrig Anne–Marie Gerdes Paul Gesta Giuseppe Giannini Sophie Giraud Gord Glendon Andrew K. Godwin Mark H. Greene

The prevalence and spectrum of germline mutations in BRCA1 BRCA2 have been reported single populations, with the majority reports focused on White Europe North America. Consortium Investigators Modifiers BRCA1/2 (CIMBA) has assembled data 18,435 families 11,351 ascertained from 69 centers 49 countries six continents. This study comprehensively describes characteristics 1,650 unique 1,731 deleterious (disease-associated) identified CIMBA database. We observed substantial variation mutation...

10.1002/humu.23406 article EN Human Mutation 2018-02-15
Elizabeth Bancroft Elizabeth Page Elena Castro Hans Lilja Andrew J. Vickers and 95 more Daniel D. Sjoberg Melissa Assel Christopher S. Foster Gillian Mitchell Kate Drew Lovise Mæhle Karol Axcrona D. Gareth Evans Barbara Bulman Diana Eccles Donna McBride Nicholas van As Hans F. A. Vasen Lambertus A. Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokołorczyk Christina G. Selkirk Peter J. Hulick Anders Bojesen Anne‐Bine Skytte Jimmy Lam Louise Taylor Rogier A. Oldenburg R.G.H.M. Cremers Gerald W. Verhaegh Wendy A. van Zelst-Stams Jan C. Oosterwijk Ignacio Blanco Mònica Salinas Jackie Cook Derek J. Rosario Saundra Buys Tom Conner Margreet G.E.M. Ausems Kai‐ren Ong Jonathan Hoffman Susan M. Domchek Jacquelyn Powers Manuel R. Teixeira Sofia Maia William D. Foulkes Nassim Taherian Mariëlle Ruijs Apollonia T. Helderman-van den Enden Louise Izatt Rosemarie Davidson Muriel A. Adank Lisa Walker Rita K. Schmutzler Kathy Tucker Judy Kirk Shirley Hodgson Marion Harris Fiona Douglas Geoffrey J. Lindeman Janez Z̆gajnar Marc Tischkowitz Virginia E. Clowes Rachel Susman Teresa Ramón y Cajal Nicholas Patcher Neus Gadea Allan D. Spigelman Theo van Os Annelie Liljegren Lucy Side Carole Brewer Angela F. Brady Alan Donaldson Vigdís Stefánsdóttir Eitan Friedman Rakefet Chen‐Shtoyerman David J. Amor Lucia Copáková Julian Barwell Veda N. Giri Vedang Murthy Nicola Nicolai Soo‐Hwang Teo Lynn Greenhalgh Sara S. Strom Alex Henderson John McGrath David Gallagher Neil K. Aaronson Audrey Ardern‐Jones Chris Bangma David Dearnaley Philandra Costello Jórunn E. Eyfjörd Jeanette Rothwell Alison Falconer Henrik Grönberg Freddie C. Hamdy

Men with germline breast cancer 1, early onset (BRCA1) or 2, (BRCA2) gene mutations have a higher risk of developing prostate (PCa) than noncarriers. IMPACT (Identification genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) is an international consortium 62 centres 20 countries evaluating the use targeted PCa men mutations.

10.1016/j.eururo.2014.01.003 article EN cc-by-nc-nd European Urology 2014-01-15
Shuai Li Valentina Silvestri Goska Leslie Timothy R. Rebbeck Susan L. Neuhausen and 95 more John L. Hopper Henriette Roed Nielsen Andrew Lee Xin Yang Lesley McGuffog Michael T. Parsons Irene L. Andrulis Norbert Arnold Muriel Belotti Åke Borg Bruno Buecher Saundra S. Buys Sandrine M. Caputo Wendy K. Chung Chrystelle Colas Sarah V. Colonna Jackie Cook Mary B. Daly Miguel de la Hoya Antoine De Pauw Hélène Delhomelle Jacqueline Eason Christoph Engel D. Gareth Evans Ulrike Faust Tanja Fehm Florentia Fostira George Fountzilas Megan N. Frone Vanesa Garcı́a Pilar Garré Marion Gauthier‐Villars Andrea Gehrig Gord Glendon David E. Goldgar Lisa Golmard Mark H. Greene Eric Hahnen Ute Hamann Helen Hanson Tiara Hassan Julia Hentschel Judit Horváth Louise Izatt Ramūnas Janavičius Yue Jiao Esther M. John Beth Y. Karlan Sung-Won Kim Irene Konstantopoulou Ava Kwong Anthony Laugé Jong Won Lee Fabienne Lesueur Noura Mebirouk Alfons Meindl Emmanuelle Mouret‐Fourme Hannah Musgrave Joanne Ngeow Dieter Niederacher Sue K. Park Inge Søkilde Pedersen Juliane Ramser Susan J. Ramus Johanna Rantala Muhammad Usman Rashid Florian Reichl Julia Ritter Andreas Rump Marta Santamariña Claire Saule Gunnar Schmidt Rita K. Schmutzler Leigha Senter Saba Shariff Christian F. Singer Melissa C. Southey Dominique Stoppa‐Lyonnet Christian Sutter Yen Y. Tan Soo‐Hwang Teo Mary Beth Terry Mads Thomassen Marc Tischkowitz Amanda E. Toland Diana Torres Ana Vega Sebastian Wagner Shan Wang‐Gohrke Barbara Wappenschmidt Bernhard H. F. Weber Drakoulis Yannoukakos Amanda B. Spurdle Douglas F. Easton Georgia Chenevix‐Trench

To provide precise age-specific risk estimates of cancers other than female breast and ovarian associated with pathogenic variants (PVs) in

10.1200/jco.21.02112 article EN Journal of Clinical Oncology 2022-01-25
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

Background Cancer associated with smoking and drinking remains a serious health problem worldwide. The survival of patients is very poor due to the lack effective early biomarkers. FOXM1 overexpression linked majority human cancers but its mechanism unclear in head neck squamous cell carcinoma (HNSCC). Methodology/Principal Findings mRNA protein expressions were investigated four independent cohorts (total 75 patients) consisting normal, premalignant HNSCC tissues cells using quantitative...

10.1371/journal.pone.0004849 article EN cc-by PLoS ONE 2009-03-13
Hui Shen Brooke L. Fridley Honglin Song Kate Lawrenson Julie M. Cunningham and 95 more Susan J. Ramus Mine S. Cicek Jonathan P. Tyrer Douglas Stram Melissa C. Larson Martin Köbel Argyrios Ziogas Wei Zheng Hannah Yang Anna H. Wu Eva Wozniak Yin Ling Woo Boris Winterhoff Elisabeth Wik Alice S. Whittemore Nicolas Wentzensen Rachel Palmieri Weber Allison F. Vitonis Daniel Vincent Robert A. Vierkant Ignace Vergote David Van Den Berg Anne M. van Altena Shelley S. Tworoger Pamela J. Thompson Daniel C. Tessier Kathryn L. Terry Soo‐Hwang Teo Claire Templeman Daniel O. Stram Melissa C. Southey Weiva Sieh Nadeem Siddiqui Yurii B. Shvetsov Xiao‐Ou Shu Viji Shridhar Shan Wang‐Gohrke Gianluca Severi Ira Schwaab Helga B. Salvesen Iwona K. Rzepecka Ingo B. Runnebaum Mary Anne Rossing Lorna Rodríguez-Rodríguez Harvey A. Risch Stefan P. Renner Elizabeth M. Poole Malcolm C. Pike Catherine M. Phelan Liisa M. Pelttari Tanja Pejović James Paul Irene Orlow Siti Zawiah Omar Sara H. Olson Kunle Odunsi Stefan Nickels Heli Nevanlinna Roberta B. Ness Steven A. Narod Toru Nakanishi Kirsten B. Moysich Álvaro N.A. Monteiro Joanna Moes-Sosnowska Francesmary Modugno Usha Menon Esther M. John Valerie McGuire Keitaro Matsuo Noor Azmi Mat Adenan Leon F.A.G. Massuger Galina Lurie Lene Lundvall Jan Lubiński Jolanta Lissowska Douglas A. Levine Arto Leminen Alice W. Lee Nhu D. Le Sandrina Lambrechts Diether Lambrechts Jolanta Kupryjańczyk Camilla Krakstad Gottfried E. Konecny Susanne K. Kjær Lambertus A. Kiemeney Linda E. Kelemen Gary L. Keeney Beth Y. Karlan Rod Karevan Kimberly R. Kalli Hiroaki Kajiyama Bu‐Tian Ji Allan Jensen Anna Jakubowska

HNF1B is overexpressed in clear cell epithelial ovarian cancer, and we observed epigenetic silencing serous leading us to hypothesize that variation this gene differentially associates with cancer risk according histological subtype. Here comprehensively map respect analyse DNA methylation expression profiles across subtypes. Different single-nucleotide polymorphisms associate invasive (rs7405776 odds ratio (OR)=1.13, P=3.1 × 10−10) (rs11651755 OR=0.77, P=1.6 10−8) cancer. Risk alleles for...

10.1038/ncomms2629 article EN cc-by-nc-nd Nature Communications 2013-03-27

Abstract Treatment options for patients with brain metastases ( BMs ) have limited efficacy and the mortality rate is virtually 100%. Targeted therapy critically under‐utilized, our understanding of mechanisms underpinning metastatic outgrowth in limited. To address these deficiencies, we investigated genomic transcriptomic landscapes 36 from breast, lung, melanoma oesophageal cancers, using DNA copy‐number analysis exome‐ RNA ‐sequencing. The key findings were as follows. (a) Identification...

10.1002/path.4583 article EN The Journal of Pathology 2015-07-14
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

Polygenic risk scores (PRS) have been shown to predict breast cancer in European women, but their utility Asian women is unclear. Here we evaluate the best performing PRSs for European-ancestry using data from 17,262 cases and 17,695 controls of ancestry 13 case-control studies, 10,255 Chinese a prospective cohort (413 incident cancers). Compared middle quintile distribution, highest 1% PRS distribution ~2.7-fold lowest has ~0.4-fold developing cancer. There no evidence heterogeneity...

10.1038/s41467-020-17680-w article EN cc-by Nature Communications 2020-07-31
Douglas F. Easton Fabienne Lesueur Brennan Decker Kyriaki Michailidou Jun Li and 95 more Jamie Allen Craig Luccarini Karen A. Pooley Mitul Shah Manjeet K. Bolla Sophia Wang Joe Dennis Jamil Ahmad Ella R. Thompson Francesca Damiola Maroulio Pertesi Catherine Voegele Noura Mebirouk Nivonirina Robinot Geoffroy Durand Nathalie Forey Robert Luben Shahana Ahmed Kristiina Aittomäki Hoda Anton‐Culver Volker Arndt Caroline Baynes Matthias W. Beckman Javier Benı́tez David Van Den Berg William J. Blot Natalia Bogdanova Stig E. Bojesen Hermann Brenner Jenny Chang‐Claude Kee Seng Chia Ji‐Yeob Choi Don Conroy Angela Cox Simon S. Cross Kamila Czene Hatef Darabi Peter Devilee Mikael Eriksson Peter A. Fasching Jonine D. Figueroa Henrik Flyger Florentia Fostira Montserrat García‐Closas Graham G. Giles Gord Glendon Anna González‐Neira Pascal Guénel Christopher A. Haiman Per Hall Steven N. Hart Mikael Hartman Maartje J. Hooning Chia‐Ni Hsiung Hidemi Ito Anna Jakubowska Paul A. James Esther M. John Nichola Johnson Michael E. Jones Maria Kabisch Daehee Kang Veli‐Matti Kosma Vessela Kristensen Diether Lambrechts Na Li Annika Lindblom Jirong Long Artitaya Lophatananon Jan Lubiński Graham J. Mann Siranoush Manoukian Sara Margolin Keitaro Matsuo Alfons Meindl Gillian Mitchell Kenneth Muir Ines Nevelsteen Ans van den Ouweland Paolo Peterlongo Sze Yee Phuah Katri Pylkäs Simone M. Rowley Suleeporn Sangrajrang Rita K. Schmutzler Chen‐Yang Shen Xiao‐Ou Shu Melissa C. Southey Harald Surowy Anthony J. Swerdlow Soo‐Hwang Teo Rob A.�E.�M. Tollenaar Ian Tomlinson Diana Torres Thérèse Truong

<h3>Background</h3> BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family DNA repair proteins. Biallelic mutations in <i>BRIP1</i> are responsible for FANC J, and previous studies have also suggested that rare truncating variants associated with an increased risk breast cancer. These led to inclusion on targeted sequencing panels cancer prediction. <h3>Methods</h3> We evaluated a variant, p.Arg798Ter (rs137852986), 10...

10.1136/jmedgenet-2015-103529 article EN Journal of Medical Genetics 2016-02-26

<h3>Importance</h3> Increasing<i>BRCA1</i>and<i>BRCA2</i>(collectively termed herein as BRCA) gene testing is required to improve cancer management and prevent BRCA-related cancers. <h3>Objective</h3> To evaluate mainstream genetic using cancer-based criteria in patients with cancer. <h3>Design, Setting, Participants</h3> A quality improvement study cost-effectiveness analysis of different BRCA selection access procedures feasibility, acceptability, mutation detection performance was...

10.1001/jamanetworkopen.2019.4428 article EN cc-by-nc-nd JAMA Network Open 2019-05-24

Abstract Molecular profiling of breast cancer has enabled the development more robust molecular prognostic signatures and therapeutic options for patients. However, non-Caucasian populations remain understudied. Here, we present mutational, transcriptional, copy number profiles 560 Malaysian tumours a comparative analysis cancers arising in Asian Caucasian women. Compared to women, show an increased prevalence HER2-enriched subtypes higher TP53 somatic mutations ER+ tumours. We also observe...

10.1038/s41467-020-20173-5 article EN cc-by Nature Communications 2020-12-22
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
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