Amanda B. Spurdle

ORCID: 0000-0003-1337-7897
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About
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Research Areas
  • BRCA gene mutations in cancer
  • Genetic factors in colorectal cancer
  • Cancer Genomics and Diagnostics
  • Genetic Associations and Epidemiology
  • Genomics and Rare Diseases
  • Ovarian cancer diagnosis and treatment
  • Cancer-related molecular mechanisms research
  • CRISPR and Genetic Engineering
  • Nutrition, Genetics, and Disease
  • RNA Research and Splicing
  • Endometrial and Cervical Cancer Treatments
  • Genomic variations and chromosomal abnormalities
  • RNA modifications and cancer
  • Epigenetics and DNA Methylation
  • DNA Repair Mechanisms
  • Prostate Cancer Treatment and Research
  • Genetics, Bioinformatics, and Biomedical Research
  • Molecular Biology Techniques and Applications
  • Estrogen and related hormone effects
  • RNA and protein synthesis mechanisms
  • Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Cancer-related Molecular Pathways
  • Prostate Cancer Diagnosis and Treatment
  • Genomics and Chromatin Dynamics
  • Colorectal Cancer Screening and Detection

The University of Queensland
2008-2025

QIMR Berghofer Medical Research Institute
2016-2025

The University of Melbourne
2000-2024

Medical Research Institute
2024

Hunter Medical Research Institute
2015-2024

Services Australia
2024

Faculty (United Kingdom)
2024

The Royal Melbourne Hospital
2010-2024

Peter MacCallum Cancer Centre
2000-2024

University of California, Santa Cruz
2024

Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to predict risk developing cancer. In general, sequence-based germline DNA used determine whether an individual carries a change that clearly likely disrupt normal gene function. may detect changes are pathogenic, neutral, or variants unclear significance. Such present considerable challenge the diagnostic laboratory and receiving clinician terms interpretation clear presentation implications result...

10.1002/humu.20880 article EN Human Mutation 2008-10-24
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

10.1038/ng1981 article EN Nature Genetics 2007-02-11
Nasim Mavaddat Daniel Barrowdale Irene L. Andrulis Susan M. Domchek Diana Eccles and 95 more Heli Nevanlinna Susan J. Ramus Amanda B. Spurdle Mark E. Robson Mark E. Sherman Anna Marie Mulligan Fergus J. Couch Christoph Engel Lesley McGuffog Sue Healey Olga M. Sinilnikova Melissa C. Southey Mary Beth Terry David E. Goldgar Frances P. O’Malley Esther M. John Ramūnas Janavičius Laima Tihomirova Thomas van Overeem Hansen Finn C. Nielsen Ana Osório Alexandra Stavropoulou Javier Benı́tez Siranoush Manoukian Bernard Peissel Monica Barile Sara Volorio Barbara Pasini Riccardo Dolcetti Anna Laura Putignano Laura Ottini Paolo Radice Ute Hamann Muhammad Usman Rashid Frans B.L. Hogervorst Mieke Kriege Rob B. van der Luijt Susan Peock Debra Frost D. Gareth Evans Carole Brewer Lisa Walker Mark T. Rogers Lucy Side Catherine Houghton JoEllen Weaver Andrew K. Godwin Rita K. Schmutzler Barbara Wappenschmidt Alfons Meindl Karin Kast Norbert Arnold Dieter Niederacher Christian Sutter Helmut Deißler Doroteha Gadzicki Sabine Preisler‐Adams Raymonda Varon-Mateeva Ines Schönbuchner Heidrun Gevensleben Dominique Stoppa‐Lyonnet Muriel Belotti Laure Barjhoux Claudine Isaacs Beth N. Peshkin Trinidad Caldés Miguel de la Hoya Carmen Cañadas Tuomas Heikkinen Päivi Heikkilä Kristiina Aittomäki Ignacio Blanco Conxi Lázaro Joan Brunet Bjarni A. Agnarsson Aðalgeir Arason Rósa B. Barkardóttir Martine Dumont Jacques Simard Marco Montagna Simona Agata Emma D’Andrea Max Yan Stephen B. Fox Timothy R. Rebbeck Wendy S. Rubinstein Nadine Tung Judy E. Garber Xianshu Wang Zachary Fredericksen V. Shane Pankratz Noralane M. Lindor Csilla I. Szabo Kenneth Offit Rita A. Sakr

Abstract Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 2,568 to analyze the pathology invasive breast, ovarian, contralateral cancers. Results: There was strong evidence proportion estrogen receptor (ER)-negative decreased with age at diagnosis among (P-trend = 1.2 × 10−5), but increased BRCA2, 6.8 10−6)....

10.1158/1055-9965.epi-11-0775 article EN Cancer Epidemiology Biomarkers & Prevention 2012-01-01
Rosalind A. Eeles Ali Amin Al Olama Sara Benlloch Edward J. Saunders Daniel Leongamornlert and 95 more Malgorzata Tymrakiewicz Maya Ghoussaini Craig Luccarini Joe Dennis Sarah Jugurnauth-Little Tokhir Dadaev David E. Neal Freddie C. Hamdy Jenny Donovan Ken Muir Graham G. Giles Gianluca Severi Fredrik Wiklund Henrik Grönberg Christopher A. Haiman Fredrick R. Schumacher Brian E. Henderson Loı̈c Le Marchand Sara Lindström Peter Kraft David J. Hunter Susan M. Gapstur Stephen J. Chanock Sonja I. Berndt Demetrius Albanes Gerald L. Andriole Johanna Schleutker Maren Weischer Federico Canzian Elio Ríboli Timothy J. Key Ruth C. Travis Daniele Campa Sue A. Ingles Esther M. John Richard B. Hayes Paul D.P. Pharoah Nora Pashayan Kay‐Tee Khaw Janet L. Stanford Elaine A. Ostrander Lisa B. Signorello Stephen N. Thibodeau Dan Schaid Christiane Maier Walther Vogel Adam S. Kibel Cezary Cybulski Jan Lubiński Lisa Cannon‐Albright Hermann Brenner Jong Y. Park Radka Kaneva Jyotsna Batra Amanda B. Spurdle Judith A. Clements Manuel R. Teixeira Ed Dicks Andrew Lee Alison M. Dunning Caroline Baynes Don Conroy Melanie Maranian Shahana Ahmed Koveela Govindasami Michelle Guy Rosemary Wilkinson Emma Sawyer Angela Morgan David P. Dearnaley Alan Horwich Robert Huddart Vincent Khoo Christopher Parker Nicholas van As Christopher Woodhouse Alan Thompson Tim Dudderidge Chris Ogden Colin S. Cooper Artitaya Lophatananon Angela Cox Melissa C. Southey John L. Hopper Dallas R. English Markus Aly Jan Adolfsson Jiangfeng Xu Siqun L. Zheng Meredith Yeager Rudolf Kaaks W. Ryan Diver Mia M. Gaudet Mariana C. Stern Román Corral

10.1038/ng.2560 article EN Nature Genetics 2013-03-27
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
Philip Haycock Stephen Burgess Aayah Nounu Jie Zheng George N. Okoli and 95 more Jack Bowden Kaitlin H. Wade Nicholas J. Timpson David M. Evans Peter Willeit Abraham Aviv Tom R. Gaunt Gibran Hemani Massimo Mangino Hayley Ellis Kathreena M. Kurian Karen A. Pooley Rosalind A. Eeles Jeffrey E. Lee Shenying Fang Wei V. Chen Matthew H. Law Lisa Bowdler Mark M. Iles Qiong Yang Bradford B. Worrall Hugh S. Markus Rayjean J. Hung Chris Amos Amanda B. Spurdle Deborah J. Thompson Tracy A. O’Mara Brian M. Wolpin Laufey T. Ámundadóttir Rachael Z. Stolzenberg‐Solomon Antonia Trichopoulou N. Charlotte Onland‐Moret Eiliv Lund Eric J. Duell Federico Canzian Gianluca Severi Kim Overvad Marc J. Gunter ­Rosario ­Tumino Ulrika Svenson André van Rij Annette F. Baas Matthew J. Bown Nilesh J. Samani Femke N.G. van t’Hof Gerard Tromp Gregory T. Jones Helena Kuivaniemi James R. Elmore Mattias Johansson James McKay Ghislaine Scélo Robert Carreras‐Torres Valérie Gaborieau Paul Brennan Paige M. Bracci Rachel Ε. Neale Sara H. Olson Steven Gallinger Donghui Li Gloria M. Petersen Harvey A. Risch Alison P. Klein Jiali Han Christian C. Abnet Neal D. Freedman Philip R. Taylor John M. Maris Katja K.H. Aben Lambertus A. Kiemeney Sita H. Vermeulen John K. Wiencke Kyle M. Walsh Margaret Wrensch Terri Rice Clare Turnbull Kevin Litchfield Lavinia Paternoster Marie Standl Gonçalo R. Abecasis John Paul SanGiovanni Yong Li Vladan Mijatovic Yadav Sapkota Siew‐Kee Low Krina T. Zondervan Grant W. Montgomery Dale R. Nyholt David A. van Heel Karen A. Hunt Dan E. Arking Foram N. Ashar Nona Sotoodehnia Daniel Woo Jonathan Rosand

The causal direction and magnitude of the association between telomere length incidence cancer non-neoplastic diseases is uncertain owing to susceptibility observational studies confounding reverse causation.

10.1001/jamaoncol.2016.5945 article EN JAMA Oncology 2017-02-27
Rosalind A. Eeles Zsofia Kote‐Jarai Ali Amin Al Olama Graham G. Giles Michelle Guy and 95 more Gianluca Severi Kenneth Muir John L. Hopper Brian E. Henderson Christopher A. Haiman Johanna Schleutker Freddie C. Hamdy David E. Neal Jenny Donovan Janet L. Stanford Elaine A. Ostrander Sue A. Ingles Esther M. John Stephen N. Thibodeau Daniel J. Schaid Jong Y. Park Amanda B. Spurdle Judith A. Clements Joanne L. Dickinson Christiane Maier Walther Vogel Thilo Dörk Timothy R. Rebbeck Kathleen A. Cooney Lisa Cannon‐Albright Pierre O. Chappuis Pierre Hutter Maurice P. Zeegers Radka Kaneva Hongwei Zhang Yong‐Jie Lu William D. Foulkes Dallas R. English Daniel Leongamornlert Malgorzata Tymrakiewicz Jonathan J. Morrison Audrey Ardern‐Jones Amanda L. Hall Lynne T. O'Brien Rosemary Wilkinson Edward J. Saunders Elizabeth Page Emma J Sawyer Stephen M. Edwards David P. Dearnaley Alan Horwich Robert Huddart Vincent Khoo Christopher Parker Nicholas van As Christopher Woodhouse Alan Thompson Tim Christmas Chris Ogden Colin S. Cooper Melissa C. Southey Artitaya Lophatananon Jo‐Fen Liu Laurence N. Kolonel Loı̈c Le Marchand Tiina Wahlfors Teuvo L.J. Tammela Anssi Auvinen Sarah J. Lewis Angela Cox Liesel M. FitzGerald Joseph S. Koopmeiners Danielle M. Karyadi Erika M. Kwon Mariana C. Stern Román Corral Amit D. Joshi Ahva Shahabi Shannon K. McDonnell Thomas A. Sellers Julio M. Pow‐Sang Suzanne K. Chambers Joanne F. Aitken Robert A. Gardiner Jyotsna Batra Mary Anne Kedda Felicity Lose Andrea Polanowski Briony Patterson Jürgen Serth Andreas Meyer Manuel Luedeke Klara Stefflova Anna M. Ray Ethan M. Lange James M. Farnham Humera Khan Chavdar Slavov A. Mitkova Guangwen Cao

10.1038/ng.450 article EN Nature Genetics 2009-09-20
Montserrat García‐Closas Per Hall Heli Nevanlinna Karen A. Pooley Jonathan J. Morrison and 95 more Douglas Richesson Stig E. Bojesen Børge G. Nordestgaard C. K. Axelsson José Ignacio Arias Roger L. Milne Glòria Ribas Anna González‐Neira Javier Benı́tez Pilar Zamora Hiltrud Brauch Christina Justenhoven Ute Hamann Yon‐Dschun Ko Thomas Bruening Susanne Haas Thilo Dörk Peter Schürmann Peter Hillemanns Natalia Bogdanova Michael Bremer Johann H. Karstens Rainer Fagerholm Kirsimari Aaltonen Kristiina Aittomäki Karl von Smitten Carl Blomqvist Graham J. Mann Matti Uusitupa Matti Eskelinen Maria Tengström Veli‐Matti Kosma Vesa Kataja Georgia Chenevix‐Trench Amanda B. Spurdle Jonathan Beesley Xiaohong Chen Peter Devilee Christi J. van Asperen Catharina E. Jacobi Rob A.�E.�M. Tollenaar Petra E.A. Huijts Jan G.M. Klijn Jenny Chang‐Claude Silke Kropp Tracy Slanger Dieter Flesch‐Janys Elke Mutschelknauss Ramona Salazar Shan Wang‐Gohrke Fergus J. Couch Ellen L. Goode Janet E. Olson Celine M. Vachon Zachary S. Fredericksen Graham G. Giles Laura Baglietto Gianluca Severi John L. Hopper Dallas R. English Melissa C. Southey Christopher A. Haiman Brian E. Henderson Laurence N. Kolonel Loı̈c Le Marchand Daniel O. Stram David J. Hunter Susan E. Hankinson David G. Cox Rulla M. Tamimi Peter Kraft Mark E. Sherman Stephen J. Chanock Jolanta Lissowska Louise A. Brinton Beata Pepłońska Jan G.M. Klijn Maartje J. Hooning Han Meijers-Heijboer J. Margriet Collée Ans van den Ouweland André G. Uitterlinden Jianjun Liu Low Yen Lin Yuqing Li Keith Humphreys Kamila Czene Angela Cox Sabapathy P. Balasubramanian Simon S. Cross Malcolm Reed Fiona M. Blows Kristy Driver Alison M. Dunning Jonathan P. Tyrer

A three-stage genome-wide association study recently identified single nucleotide polymorphisms (SNPs) in five loci (fibroblast growth receptor 2 (FGFR2), trinucleotide repeat containing 9 (TNRC9), mitogen-activated protein kinase 3 K1 (MAP3K1), 8q24, and lymphocyte-specific 1 (LSP1)) associated with breast cancer risk. We investigated whether the associations between these SNPs risk varied by clinically important tumor characteristics up to 23,039 invasive cases 26,273 controls from 20...

10.1371/journal.pgen.1000054 article EN cc-by PLoS Genetics 2008-04-25
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

Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 ovarian (OC) risk. Several of these are also BC or OC for women who carry a pathogenic mutation in the high-risk genes BRCA1 BRCA2. The combined effects variants on BRCA2 carriers not yet been assessed while their clinical management could benefit from improved personalized estimates. We constructed polygenic scores (PRS) using susceptibility...

10.1093/jnci/djw302 article EN cc-by JNCI Journal of the National Cancer Institute 2016-11-29
Zsofia Kote‐Jarai Ali Amin Al Olama Graham G. Giles Gianluca Severi Johanna Schleutker and 95 more Maren Weischer Daniele Campa Elio Ríboli Timothy J. Key Henrik Grönberg David J. Hunter Peter Kraft Michael J. Thun Sue A. Ingles Stephen Chanock Demetrius Albanes Richard B. Hayes David E. Neal Freddie C. Hamdy Jenny Donovan Paul D.P. Pharoah Fredrick R. Schumacher Brian E. Henderson Janet L. Stanford Elaine A. Ostrander Karina D. Sørensen Thilo Dörk Gerald L. Andriole Joanne L. Dickinson Cezary Cybulski Jan Lubiński Amanda B. Spurdle Judith A. Clements Suzanne K. Chambers Joanne F. Aitken Robert A. Gardiner Stephen N. Thibodeau Dan Schaid Esther M. John Christiane Maier Walther Vogel Kathleen A. Cooney Jong Y. Park Lisa Cannon‐Albright Hermann Brenner Tomonori Habuchi Hongwei Zhang Yong‐Jie Lu Radka Kaneva Ken Muir Sara Benlloch Daniel Leongamornlert Edward J. Saunders Malgorzata Tymrakiewicz Nadiya Mahmud Michelle Guy Lynne T. O'Brien Rosemary Wilkinson Amanda L. Hall Emma J Sawyer Tokhir Dadaev Jonathan J. Morrison David P. Dearnaley A. Horwich Robert Huddart Vincent Khoo Christopher Parker Nicholas van As Christopher Woodhouse Alan Thompson Tim Christmas Chris Ogden Colin S. Cooper Aritaya Lophatonanon Melissa C. Southey John L. Hopper Dallas R. English Tiina Wahlfors Teuvo L.J. Tammela Peter Klarskov Børge G. Nordestgaard Martin Andreas Røder Anne Tybjærg‐Hansen Stig E. Bojesen Ruth C. Travis Federico Canzian Rudolf Kaaks Fredrik Wiklund Markus Aly Sara Lindström W. Ryan Diver Susan M. Gapstur Mariana C. Stern Román Corral Jarmo Virtamo Angela Cox Christopher A. Haiman Loı̈c Le Marchand Liesel M. FitzGerald Suzanne Kolb

10.1038/ng.882 article EN Nature Genetics 2011-07-10

As genetic testing for predisposition to human diseases has become an increasingly common practice in medicine, the need clear interpretation of test results is apparent. However, many disease genes, including breast cancer susceptibility genes BRCA1 and BRCA2, a significant fraction tests detection variant which association not known. The finding "unclassified" (UV)/variant uncertain significance (VUS) complicates reporting counseling. these variants are individually rare, large...

10.1002/humu.21628 article EN Human Mutation 2011-10-11

10.1016/j.ajhg.2008.02.008 article EN publisher-specific-oa The American Journal of Human Genetics 2008-03-24

10.1016/j.ajhg.2016.03.001 article EN publisher-specific-oa The American Journal of Human Genetics 2016-04-14

Pathogenic variants in highly penetrant genes are useful for the diagnosis, therapy, and surveillance hereditary breast cancer. Large-scale studies needed to inform future testing variant classification processes Japanese. We performed a case-control association study coding regions of 11 cancer 7051 unselected patients 11,241 female controls Japanese ancestry. Here, we identify 244 germline pathogenic variants. found 5.7% patients, ranging from 15% women diagnosed <40 years 3.2% ≥80 years,...

10.1038/s41467-018-06581-8 article EN cc-by Nature Communications 2018-09-28

Clinicopathologic data from a population-based endometrial cancer cohort, unselected for age or family history, were analyzed to determine the optimal scheme identification of patients with germline mismatch repair (MMR) gene mutations.Endometrial cancers 702 recruited into Australian National Endometrial Cancer Study (ANECS) tested MMR protein expression using immunohistochemistry (IHC) and MLH1 promoter methylation in MLH1-deficient cases. mutation testing was performed on DNA MMR-protein...

10.1200/jco.2013.51.2129 article EN Journal of Clinical Oncology 2013-12-10
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

<h3>Abstract</h3> <h3>Objectives</h3> To develop and validate a genetic tool to predict age of onset aggressive prostate cancer (PCa) guide decisions who screen at what age. <h3>Design</h3> Analysis genotype, PCa status, select single nucleotide polymorphisms (SNPs) associated with diagnosis. These were incorporated into survival analysis estimate their effects on diagnosis (that is, not eligible for surveillance according National Comprehensive Cancer Network guidelines; any Gleason score...

10.1136/bmj.j5757 article EN cc-by-nc BMJ 2018-01-10

The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 BRCA2 data support highly collaborative research activities. Its goal generate an informed current understanding of impact genetic variation on cancer risk across iconic predisposition genes, BRCA2. Initially, reported variants in available from public databases were integrated into single, newly created site, www.brcaexchange.org. purpose Exchange...

10.1371/journal.pgen.1007752 article EN public-domain PLoS Genetics 2018-12-26
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