Literature DB >> 33335023

CanRisk Tool-A Web Interface for the Prediction of Breast and Ovarian Cancer Risk and the Likelihood of Carrying Genetic Pathogenic Variants.

Tim Carver1, Simon Hartley2, Andrew Lee3, Alex P Cunningham3, Stephanie Archer4, Chantal Babb de Villiers4, Jonathan Roberts5, Rod Ruston6, Fiona M Walter4,7, Marc Tischkowitz5,8, Douglas F Easton3,9, Antonis C Antoniou3.   

Abstract

BACKGROUND: The CanRisk Tool (https://canrisk.org) is the next-generation web interface for the latest version of the BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) state-of-the-art risk model and a forthcoming ovarian cancer risk model.
METHODS: The tool captures information on family history, rare pathogenic variants in cancer susceptibility genes, polygenic risk scores, lifestyle/hormonal/clinical features, and imaging risk factors to predict breast and ovarian cancer risks and estimate the probabilities of carrying pathogenic variants in certain genes. It was implemented using modern web frameworks, technologies, and web services to make it extensible and increase accessibility to researchers and third-party applications. The design of the graphical user interface was informed by feedback from health care professionals and a formal evaluation.
RESULTS: This freely accessible tool was designed to be user friendly for clinicians and to boost acceptability in clinical settings. The tool incorporates a novel graphical pedigree builder to facilitate collection of the family history data required by risk calculations.
CONCLUSIONS: The CanRisk Tool provides health care professionals and researchers with a user-friendly interface to carry out multifactorial breast and ovarian cancer risk predictions. It is the first freely accessible cancer risk prediction program to carry the CE marking. IMPACT: There have been over 3,100 account registrations, and 98,000 breast and ovarian cancer risk calculations have been run within the first 9 months of the CanRisk Tool launch. ©2020 American Association for Cancer Research.

Entities:  

Mesh：

Year:  2020        PMID： 33335023      PMCID： PMC7611188          DOI： 10.1158/1055-9965.EPI-20-1319

Source DB:  PubMed          Journal:  Cancer Epidemiol Biomarkers Prev        ISSN： 1055-9965            Impact factor:   4.090


  13 in total

Review 1.  Cancer screening in the United States, 2015: a review of current American cancer society guidelines and current issues in cancer screening.

Authors:  Robert A Smith; Deana Manassaram-Baptiste; Durado Brooks; Mary Doroshenk; Stacey Fedewa; Debbie Saslow; Otis W Brawley; Richard Wender
Journal:  CA Cancer J Clin       Date:  2015-01-08       Impact factor: 508.702

2.  A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes.

Authors:  A C Antoniou; P D P Pharoah; G McMullan; N E Day; M R Stratton; J Peto; B J Ponder; D F Easton
Journal:  Br J Cancer       Date:  2002-01-07       Impact factor: 7.640

3.  Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors.

Authors:  R L Bennett; K A Steinhaus; S B Uhrich; C K O'Sullivan; R G Resta; D Lochner-Doyle; D S Markel; V Vincent; J Hamanishi
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

4.  Clinical software development for the Web: lessons learned from the BOADICEA project.

Authors:  Alex P Cunningham; Antonis C Antoniou; Douglas F Easton
Journal:  BMC Med Inform Decis Mak       Date:  2012-04-10       Impact factor: 2.796

5.  pedigreejs: a web-based graphical pedigree editor.

Authors:  Tim Carver; Alex P Cunningham; Chantal Babb de Villiers; Andrew Lee; Simon Hartley; Marc Tischkowitz; Fiona M Walter; Douglas F Easton; Antonis C Antoniou
Journal:  Bioinformatics       Date:  2018-03-15       Impact factor: 6.937

6.  Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

Authors:  Nasim Mavaddat; Kyriaki Michailidou; Joe Dennis; Michael Lush; Laura Fachal; Andrew Lee; Jonathan P Tyrer; Ting-Huei Chen; Qin Wang; Manjeet K Bolla; Xin Yang; Muriel A Adank; Thomas Ahearn; Kristiina Aittomäki; Jamie Allen; Irene L Andrulis; Hoda Anton-Culver; Natalia N Antonenkova; Volker Arndt; Kristan J Aronson; Paul L Auer; Päivi Auvinen; Myrto Barrdahl; Laura E Beane Freeman; Matthias W Beckmann; Sabine Behrens; Javier Benitez; Marina Bermisheva; Leslie Bernstein; Carl Blomqvist; Natalia V Bogdanova; Stig E Bojesen; Bernardo Bonanni; Anne-Lise Børresen-Dale; Hiltrud Brauch; Michael Bremer; Hermann Brenner; Adam Brentnall; Ian W Brock; Angela Brooks-Wilson; Sara Y Brucker; Thomas Brüning; Barbara Burwinkel; Daniele Campa; Brian D Carter; Jose E Castelao; Stephen J Chanock; Rowan Chlebowski; Hans Christiansen; Christine L Clarke; J Margriet Collée; Emilie Cordina-Duverger; Sten Cornelissen; Fergus J Couch; Angela Cox; Simon S Cross; Kamila Czene; Mary B Daly; Peter Devilee; Thilo Dörk; Isabel Dos-Santos-Silva; Martine Dumont; Lorraine Durcan; Miriam Dwek; Diana M Eccles; Arif B Ekici; A Heather Eliassen; Carolina Ellberg; Christoph Engel; Mikael Eriksson; D Gareth Evans; Peter A Fasching; Jonine Figueroa; Olivia Fletcher; Henrik Flyger; Asta Försti; Lin Fritschi; Marike Gabrielson; Manuela Gago-Dominguez; Susan M Gapstur; José A García-Sáenz; Mia M Gaudet; Vassilios Georgoulias; Graham G Giles; Irina R Gilyazova; Gord Glendon; Mark S Goldberg; David E Goldgar; Anna González-Neira; Grethe I Grenaker Alnæs; Mervi Grip; Jacek Gronwald; Anne Grundy; Pascal Guénel; Lothar Haeberle; Eric Hahnen; Christopher A Haiman; Niclas Håkansson; Ute Hamann; Susan E Hankinson; Elaine F Harkness; Steven N Hart; Wei He; Alexander Hein; Jane Heyworth; Peter Hillemanns; Antoinette Hollestelle; Maartje J Hooning; Robert N Hoover; John L Hopper; Anthony Howell; Guanmengqian Huang; Keith Humphreys; David J Hunter; Milena Jakimovska; Anna Jakubowska; Wolfgang Janni; Esther M John; Nichola Johnson; Michael E Jones; Arja Jukkola-Vuorinen; Audrey Jung; Rudolf Kaaks; Katarzyna Kaczmarek; Vesa Kataja; Renske Keeman; Michael J Kerin; Elza Khusnutdinova; Johanna I Kiiski; Julia A Knight; Yon-Dschun Ko; Veli-Matti Kosma; Stella Koutros; Vessela N Kristensen; Ute Krüger; Tabea Kühl; Diether Lambrechts; Loic Le Marchand; Eunjung Lee; Flavio Lejbkowicz; Jenna Lilyquist; Annika Lindblom; Sara Lindström; Jolanta Lissowska; Wing-Yee Lo; Sibylle Loibl; Jirong Long; Jan Lubiński; Michael P Lux; Robert J MacInnis; Tom Maishman; Enes Makalic; Ivana Maleva Kostovska; Arto Mannermaa; Siranoush Manoukian; Sara Margolin; John W M Martens; Maria Elena Martinez; Dimitrios Mavroudis; Catriona McLean; Alfons Meindl; Usha Menon; Pooja Middha; Nicola Miller; Fernando Moreno; Anna Marie Mulligan; Claire Mulot; Victor M Muñoz-Garzon; Susan L Neuhausen; Heli Nevanlinna; Patrick Neven; William G Newman; Sune F Nielsen; Børge G Nordestgaard; Aaron Norman; Kenneth Offit; Janet E Olson; Håkan Olsson; Nick Orr; V Shane Pankratz; Tjoung-Won Park-Simon; Jose I A Perez; Clara Pérez-Barrios; Paolo Peterlongo; Julian Peto; Mila Pinchev; Dijana Plaseska-Karanfilska; Eric C Polley; Ross Prentice; Nadege Presneau; Darya Prokofyeva; Kristen Purrington; Katri Pylkäs; Brigitte Rack; Paolo Radice; Rohini Rau-Murthy; Gad Rennert; Hedy S Rennert; Valerie Rhenius; Mark Robson; Atocha Romero; Kathryn J Ruddy; Matthias Ruebner; Emmanouil Saloustros; Dale P Sandler; Elinor J Sawyer; Daniel F Schmidt; Rita K Schmutzler; Andreas Schneeweiss; Minouk J Schoemaker; Fredrick Schumacher; Peter Schürmann; Lukas Schwentner; Christopher Scott; Rodney J Scott; Caroline Seynaeve; Mitul Shah; Mark E Sherman; Martha J Shrubsole; Xiao-Ou Shu; Susan Slager; Ann Smeets; Christof Sohn; Penny Soucy; Melissa C Southey; John J Spinelli; Christa Stegmaier; Jennifer Stone; Anthony J Swerdlow; Rulla M Tamimi; William J Tapper; Jack A Taylor; Mary Beth Terry; Kathrin Thöne; Rob A E M Tollenaar; Ian Tomlinson; Thérèse Truong; Maria Tzardi; Hans-Ulrich Ulmer; Michael Untch; Celine M Vachon; Elke M van Veen; Joseph Vijai; Clarice R Weinberg; Camilla Wendt; Alice S Whittemore; Hans Wildiers; Walter Willett; Robert Winqvist; Alicja Wolk; Xiaohong R Yang; Drakoulis Yannoukakos; Yan Zhang; Wei Zheng; Argyrios Ziogas; Alison M Dunning; Deborah J Thompson; Georgia Chenevix-Trench; Jenny Chang-Claude; Marjanka K Schmidt; Per Hall; Roger L Milne; Paul D P Pharoah; Antonis C Antoniou; Nilanjan Chatterjee; Peter Kraft; Montserrat García-Closas; Jacques Simard; Douglas F Easton
Journal:  Am J Hum Genet       Date:  2018-12-13       Impact factor: 11.025

7.  BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface.

Authors:  A J Lee; A P Cunningham; K B Kuchenbaecker; N Mavaddat; D F Easton; A C Antoniou
Journal:  Br J Cancer       Date:  2013-12-17       Impact factor: 7.640

8.  BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors.

Authors:  Andrew Lee; Nasim Mavaddat; Amber N Wilcox; Alex P Cunningham; Tim Carver; Simon Hartley; Chantal Babb de Villiers; Angel Izquierdo; Jacques Simard; Marjanka K Schmidt; Fiona M Walter; Nilanjan Chatterjee; Montserrat Garcia-Closas; Marc Tischkowitz; Paul Pharoah; Douglas F Easton; Antonis C Antoniou
Journal:  Genet Med       Date:  2019-01-15       Impact factor: 8.822

9.  Evaluating clinician acceptability of the prototype CanRisk tool for predicting risk of breast and ovarian cancer: A multi-methods study.

Authors:  Stephanie Archer; Chantal Babb de Villiers; Fiona Scheibl; Tim Carver; Simon Hartley; Andrew Lee; Alex P Cunningham; Douglas F Easton; Jennifer G McIntosh; Jon Emery; Marc Tischkowitz; Antonis C Antoniou; Fiona M Walter
Journal:  PLoS One       Date:  2020-03-06       Impact factor: 3.240

10.  Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort.

Authors:  Inge M M Lakeman; Mar Rodríguez-Girondo; Andrew Lee; Rikje Ruiter; Bruno H Stricker; Sara R A Wijnant; Maryam Kavousi; Antonis C Antoniou; Marjanka K Schmidt; André G Uitterlinden; Jeroen van Rooij; Peter Devilee
Journal:  Genet Med       Date:  2020-07-06       Impact factor: 8.864
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  11 in total

1.  Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Authors:  Christopher Hakkaart; John F Pearson; Louise Marquart; Joe Dennis; George A R Wiggins; Daniel R Barnes; Bridget A Robinson; Peter D Mace; Kristiina Aittomäki; Irene L Andrulis; Banu K Arun; Jacopo Azzollini; Judith Balmaña; Rosa B Barkardottir; Sami Belhadj; Lieke Berger; Marinus J Blok; Susanne E Boonen; Julika Borde; Angela R Bradbury; Joan Brunet; Saundra S Buys; Maria A Caligo; Ian Campbell; Wendy K Chung; Kathleen B M Claes; Marie-Agnès Collonge-Rame; Jackie Cook; Casey Cosgrove; Fergus J Couch; Mary B Daly; Sita Dandiker; Rosemarie Davidson; Miguel de la Hoya; Robin de Putter; Capucine Delnatte; Mallika Dhawan; Orland Diez; Yuan Chun Ding; Susan M Domchek; Alan Donaldson; Jacqueline Eason; Douglas F Easton; Hans Ehrencrona; Christoph Engel; D Gareth Evans; Ulrike Faust; Lidia Feliubadaló; Florentia Fostira; Eitan Friedman; Megan Frone; Debra Frost; Judy Garber; Simon A Gayther; Andrea Gehrig; Paul Gesta; Andrew K Godwin; David E Goldgar; Mark H Greene; Eric Hahnen; Christopher R Hake; Ute Hamann; Thomas V O Hansen; Jan Hauke; Julia Hentschel; Natalie Herold; Ellen Honisch; Peter J Hulick; Evgeny N Imyanitov; Claudine Isaacs; Louise Izatt; Angel Izquierdo; Anna Jakubowska; Paul A James; Ramunas Janavicius; Esther M John; Vijai Joseph; Beth Y Karlan; Zoe Kemp; Judy Kirk; Irene Konstantopoulou; Marco Koudijs; Ava Kwong; Yael Laitman; Fiona Lalloo; Christine Lasset; Charlotte Lautrup; Conxi Lazaro; Clémentine Legrand; Goska Leslie; Fabienne Lesueur; Phuong L Mai; Siranoush Manoukian; Véronique Mari; John W M Martens; Lesley McGuffog; Noura Mebirouk; Alfons Meindl; Austin Miller; Marco Montagna; Lidia Moserle; Emmanuelle Mouret-Fourme; Hannah Musgrave; Sophie Nambot; Katherine L Nathanson; Susan L Neuhausen; Heli Nevanlinna; Joanne Ngeow Yuen Yie; Tu Nguyen-Dumont; Liene Nikitina-Zake; Kenneth Offit; Edith Olah; Olufunmilayo I Olopade; Ana Osorio; Claus-Eric Ott; Sue K Park; Michael T Parsons; Inge Sokilde Pedersen; Ana Peixoto; Pedro Perez-Segura; Paolo Peterlongo; Timea Pocza; Paolo Radice; Juliane Ramser; Johanna Rantala; Gustavo C Rodriguez; Karina Rønlund; Efraim H Rosenberg; Maria Rossing; Rita K Schmutzler; Payal D Shah; Saba Sharif; Priyanka Sharma; Lucy E Side; Jacques Simard; Christian F Singer; Katie Snape; Doris Steinemann; Dominique Stoppa-Lyonnet; Christian Sutter; Yen Yen Tan; Manuel R Teixeira; Soo Hwang Teo; Mads Thomassen; Darcy L Thull; Marc Tischkowitz; Amanda E Toland; Alison H Trainer; Vishakha Tripathi; Nadine Tung; Klaartje van Engelen; Elizabeth J van Rensburg; Ana Vega; Alessandra Viel; Lisa Walker; Jeffrey N Weitzel; Marike R Wevers; Georgia Chenevix-Trench; Amanda B Spurdle; Antonis C Antoniou; Logan C Walker
Journal:  Commun Biol       Date:  2022-10-06

2.  Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial.

Authors:  Stephanie Archer; Nichola Fennell; Ellen Colvin; Rozelle Laquindanum; Meredith Mills; Romy Dennis; Francisca Stutzin Donoso; Rochelle Gold; Alice Fan; Kate Downes; James Ford; Antonis C Antoniou; Allison W Kurian; D Gareth Evans; Marc Tischkowitz
Journal:  Cancers (Basel)       Date:  2022-05-31       Impact factor: 6.575

Review 3.  Are polygenic risk scores ready for the cancer clinic?-a perspective.

Authors:  Robert J Klein; Zeynep H Gümüş
Journal:  Transl Lung Cancer Res       Date:  2022-05

4.  Polygenic scores in biomedical research.

Authors:  Iftikhar J Kullo; Cathryn M Lewis; Michael Inouye; Alicia R Martin; Samuli Ripatti; Nilanjan Chatterjee
Journal:  Nat Rev Genet       Date:  2022-03-30       Impact factor: 59.581

Review 5.  Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.

Authors: 
Journal:  Nat Med       Date:  2021-11-15       Impact factor: 87.241

6.  Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes.

Authors:  Catherine Goudie; Leora Witkowski; Noelle Cullinan; Lara Reichman; Ian Schiller; Melissa Tachdjian; Linlea Armstrong; Katherine A Blood; Josée Brossard; Ledia Brunga; Chantel Cacciotti; Kimberly Caswell; Sonia Cellot; Mary Egan Clark; Catherine Clinton; Hallie Coltin; Kathleen Felton; Conrad V Fernandez; Adam J Fleming; Noemi Fuentes-Bolanos; Paul Gibson; Ronald Grant; Rawan Hammad; Lynn W Harrison; Meredith S Irwin; Donna L Johnston; Sarah Kane; Lucie Lafay-Cousin; Irene Lara-Corrales; Valerie Larouche; Natalie Mathews; M Stephen Meyn; Orli Michaeli; Renée Perrier; Meghan Pike; Angela Punnett; Vijay Ramaswamy; Jemma Say; Gino Somers; Uri Tabori; My Linh Thibodeau; Annie-Kim Toupin; Katherine M Tucker; Kalene van Engelen; Stephanie Vairy; Nicolas Waespe; Meera Warby; Jonathan D Wasserman; James A Whitlock; Daniel Sinnett; Nada Jabado; Paul C Nathan; Adam Shlien; Junne Kamihara; Rebecca J Deyell; David S Ziegler; Kim E Nichols; Nandini Dendukuri; David Malkin; Anita Villani; William D Foulkes
Journal:  JAMA Oncol       Date:  2021-12-01       Impact factor: 33.006

7.  Prospective Evaluation over 15 Years of Six Breast Cancer Risk Models.

Authors:  Sherly X Li; Roger L Milne; Tú Nguyen-Dumont; Dallas R English; Graham G Giles; Melissa C Southey; Antonis C Antoniou; Andrew Lee; Ingrid Winship; John L Hopper; Mary Beth Terry; Robert J MacInnis
Journal:  Cancers (Basel)       Date:  2021-10-16       Impact factor: 6.575

8.  PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.

Authors:  Daniele Giardiello; Maartje J Hooning; Michael Hauptmann; Renske Keeman; B A M Heemskerk-Gerritsen; Heiko Becher; Carl Blomqvist; Stig E Bojesen; Manjeet K Bolla; Nicola J Camp; Kamila Czene; Peter Devilee; Diana M Eccles; Peter A Fasching; Jonine D Figueroa; Henrik Flyger; Montserrat García-Closas; Christopher A Haiman; Ute Hamann; John L Hopper; Anna Jakubowska; Floor E Leeuwen; Annika Lindblom; Jan Lubiński; Sara Margolin; Maria Elena Martinez; Heli Nevanlinna; Ines Nevelsteen; Saskia Pelders; Paul D P Pharoah; Sabine Siesling; Melissa C Southey; Annemieke H van der Hout; Liselotte P van Hest; Jenny Chang-Claude; Per Hall; Douglas F Easton; Ewout W Steyerberg; Marjanka K Schmidt
Journal:  Breast Cancer Res       Date:  2022-10-21       Impact factor: 8.408

9.  Genetic clinicians' confidence in BOADICEA comprehensive breast cancer risk estimates and counselees' psychosocial outcomes: A prospective study.

Authors:  Anne Brédart; Antoine De Pauw; Anja Tüchler; Inge M M Lakeman; Amélie Anota; Kerstin Rhiem; Rita Schmutzler; Christi J van Asperen; Peter Devilee; Dominique Stoppa-Lyonnet; Jean-Luc Kop; Sylvie Dolbeault
Journal:  Clin Genet       Date:  2022-05-16       Impact factor: 4.296

10.  The value of time-dependent risk predictions in a screening context - a comprehensive simulation analysis validated on German cancer registry data.

Authors:  Vinzenz Voelkel; Teresa Draeger; Sietse van Mossel; Sabine Siesling; Hendrik Koffijberg
Journal:  BMC Med Res Methodol       Date:  2022-09-10       Impact factor: 4.612
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