16 research outputs found
A Long-Term Leisure Program for Individuals with Intellectual Disabilities
- Publication venue
- e-Publications@Marquette
- Publication date
- 01/08/2012
- Field of study
An investigation in the correlation between Ayurvedic body-constitution and food-taste preference
- Author
- Abdullah M. Al-Beda
- Abolali Mohagheghzadeh
- Adriana Macchi
- Agnete E. Kristoffersen
- Alejandra Ribas
- Aleksandar Vcev
- Alfred Längler
- Ali M. Tamaddon
- Ali Tavakoli
- Amie Steel
- Amir M. Jaladat
- Amir M. Jaladat
- Ana C. Moreno Mazini
- Ana C. Viana Valle
- Ana P. Simões-Wüst
- Ana P. Simões-Wüst
- Ana P. Simões-Wüst
- Andre Tsai
- Anette L. Larsen
- Angelika Eggert
- Anita Rose
- Anita Salamonsen
- Anita Salamonsen
- Anja Thronicke
- Anjali Bhagra
- Anna Nietlispach
- Anne Majumdar
- Anne Ponstein
- Anne Ponstein
- Annemarie Abbing
- Annemarie Abbing
- Antonella Traversi
- Ashry Gad Mohamed
- Ava Lorenc
- Ava Lorenc
- Awais Mian
- Awais Mian
- Ayda Hosseinkhani
- Babak Daneshfard
- Babak Daneshfard
- Beatriz Jimenez
- Benedikt Huber
- Benno Brinkhaus
- Bjørg Evjen
- Bo-Hyung Jang
- Bradley McEwen
- Britta Rutert
- Carel Thijs
- Carmelo Guido
- Carmelo Guido
- Carmen J. Cerda
- Carmen Rocha
- Carolina Moltó-Puigmartí
- Carolyn Szuter
- Carolyn Szuter
- Charlene H. L. Wong
- Chen Bai
- Chiara Cervino
- Chin Lin
- Christine Holmberg
- Christine Lam
- Claudia Iachino
- Cornelia Herbstreit
- Cornelia Kaspar
- Cosette Pharisa
- Daiva Jakubonienė
- Damiano Zemp
- Daniel Krüerke
- Daniela Navarrete Heckersdorf
- Darong Wu
- Darong Wu
- Deja Ostrowski
- Deja Ostrowski
- Diego Lanaro
- Dora Tsui
- Edith Chan
- Eduardo D’Alessandro
- Elham Behmanesh
- Elham Behmanesh
- Elham Behmanesh
- Elham Behmanesh
- Elio Rossi
- Elio Rossi
- Elio Rossi
- Elio Rossi
- Elio Rossi
- Eny Márcia Ruggerini
- Eric T. C. Ziea
- Eric Ziea
- Erik Baars
- Erik Baars
- Ethel Doyle
- Eunji Choi
- Eva Tihanyi
- Evgeniya Sovershaeva
- Fabian Lotz
- Fabiana Quattrone
- Fabio Firenzuoli
- Fabio Firenzuoli
- Fabio Firenzuoli
- Faith Warner
- Farhad Handjani
- Fatemeh Amini
- Fatemeh Amini
- Fatemeh Tabatabaei
- Fatemeh Tabatabei
- Fatemeh Tavakoli
- Federica Sabatini
- Fei Zhen
- Fei Zhen
- Fenna Heyning
- Fernanda Mulinari Fontana
- Filippo Bosco
- Francesco Cerritelli
- Francesco Macrì
- Francislete Melo
- Frauke Musial
- Friedemann Schad
- Gabriele Rotter
- Gabriella Hegyi
- Georg Seifert
- Gerhard Florschutz
- Gholamreza Hatam
- Gianfranco Trapani
- Giuseppe Peloni
- Gokarna Dahal
- Gregor Kaczala
- Guoyan Yang
- Hakima Amri
- Hans de Goeij
- Hans Jeekel
- Harald Gruber
- Harald Matthes
- Harald Walach
- Hasan Sadeghi
- He Yu
- Heike Gerhardt
- Helen Parsons
- Henny Hui
- Hilde Risvoll
- Holger Pelz
- Hye L. Woo
- Hyunchul Jang
- Hyunho Kim
- Héctor Jorquera
- Ingo Bolliger
- Irene Schlingensiepen
- Iva Selke-Krulichova
- Ivna M. Fuchigami
- Jacques Kopferschmitt
- Jafar Abolghasemi
- Jafar Hasanzadeh
- Jan Smit
- Jan Vagedes
- Janet Schloss
- Jang W. Lee
- Jianping Liu
- Jianping Liu
- Jianping Liu
- Jianping Liu
- Jianping Liu
- Jianping Liu
- Jianping Liu
- Jianping Liu
- Jianping Liu
- Jianxiong Cai
- Jianxiong Cai
- Jin M. Lee
- Jingnan Xu
- Jinhyang Ahn
- Jinsoon Seo
- Jitka Pokladnikova
- Johannes Wildhaber
- Joyce Hsieh
- Justin C. Y. Wu
- Justin C. Y. Wu
- Kamran Bagheri-Lankarani
- Katharina Schnabel
- Katherine Beaven
- Katherine Burke
- Katia Belvedere
- Katia Belvedere
- Katia Vuono
- Kealoha Fox
- Kealoha Fox
- Kjell H. Halvorsen
- Li Zhou
- Li Zhou
- Lily Chan
- Lina Chen
- Linda Nurra
- Lingjia Yin
- Livia Waeber
- Lixin Wang
- Liyan Jia
- Liyan Jia
- Liyan Jia
- Liyan Jia
- Liyan Jia
- Liyan Jia
- Luigi Ciullo
- Luisella Zanino
- Lynda Balneaves
- Mahmood R. Moein
- Mahsa rostami
- Majid Nimrouzi
- Majid Nimrouzi
- Marco Picchi
- Marco Picchi
- Marco Picchi
- Margit Cree
- Maria C. Torri
- Maria T. Borges Neres
- Maria T. Mangini
- Maria Waldenez Oliveira
- Marialessandra Panozzo
- Mariella Di Stefano
- Mariella Di Stefano
- Marisa Gaioli
- Marit Waaseth
- Marta Dell’Orso
- Martien van Dongen
- Martin Schnelle
- Martine Busch
- Maryam Mosaffa-Jahromi
- María L. Alcázar Saldivia
- Matthias Kröz
- Megan Steele
- Mehdi Pasalar
- Mehdi Pasalar
- Mehdi Pasalar
- Meiling Li
- Meng Zhao
- Meng Zhao
- Mia Li
- Michael Heinrich
- Michael Heinrich
- Michael Munday
- Michael Teut
- Min K. Hyun
- Miranda Rodrigo Jacobsen
- Miriam Ortiz
- Mohadeseh Ostovar
- Mohammad E. Zohalinezhad
- Mohammad M. Parvizi
- Mohammad M. Parvizi
- Mohammad M. Zarshenas
- Mohammad R. Namazi
- Mohemmed K. M. Khalil
- Mojgan Tansaz
- Mojtaba Heydari
- Mojtaba Heydari
- Momir Dunjic
- Momir Dunjic
- Monica E. Winnubst
- Morgana Masetti
- Márcia da Silva Jacobsen
- Mónica Galanti
- Mónica Galanti
- Mónica Galanti
- Mónica Mennet
- Namgyeong Go
- Nanqi Zhao
- Nanqi Zhao
- Nanqi Zhao
- Nanqi Zhao
- Nanqi Zhao
- Nanqi Zhao
- Nasrin Hamidizadeh
- Nicola Brough Phil
- Nicola Robinson
- Nicola Robinson
- Norma Barraza
- Olja Njaradi
- Olja Njaradi
- Pak K. Chan
- Palitha Serasingh
- Pantea Shirooye
- Paolo Fedi
- Patricia Ronan
- Patricia Ronan
- Paulo Caceres Guido
- Pavel Sidorov
- Penny Agent
- Penny Agent
- Petar Papuga
- Peter Heusser
- Pholtan Rajamanoharan
- Pierluigi Quadri
- Pieter Dagnelie
- Po-Hsu Chen
- Raid A. Abutalib
- Ralf Suhr
- Razie N. Meybodi
- Renate Oepen
- Ricardo Monezi
- Ricardo Monezi
- Ricardo Monezi
- Ricardo Monezi
- Robert Kempenich
- Roberto Cardarelli
- Robin S. T. Ho
- Romy Schneider
- Roshanak Mokaberinejad
- Rui M. Da Cunha Faria
- Sam Watts
- Sandra Burnside
- Sarah Croke
- Sarah Stewart-Brown
- Saravanan Sathasivampillai
- Sathyanarayana Badekila
- Sebastian Weiss
- Sebo Damir
- Seyyedali Mozaffarpour
- Seyyedali Mozaffarpour
- Seyyedali Mozaffarpour
- Seyyedali Mozaffarpour
- Shelley Dorazio
- Siaw M. Liew
- Sicheng Wang
- Silvia Villanueva
- Siobhan Carr
- Siobhan Carr
- Solveig Wiesener
- Sonia Baccetti
- Sonia Baccetti
- Sonia Baccetti
- Su Madge
- Su Madge
- Sulaiman AlEidi
- Suleiman Afsharypuor
- Susanne Metzner
- Suzanne Hanser
- Sylvia Binting
- Taoying Lu
- Tido von Schoen-Angerer
- Tiegang Liu
- Tiziana Di Giampietro
- Tommaso Bellandi
- Tommaso Conti
- Torunn Hamran
- Trine Stub
- Trude Giverhaug
- Tu-Hsing Wu
- Ursula von Mandach
- Vahid Tafazoli
- Vahid Tafazoli
- Vincent C. H. Chung
- Vincent C. H. Chung
- Viola Heckel
- Volker Perlitz
- Weiwei Li
- Weiwei Li
- Wendy Wong
- Wiebke Stritter
- William Elder
- Wilma Sanzeni
- Wonmo Jung
- Xaver Frauenknecht
- Xia Wang
- Xiaohong Gu
- Xiaolin Tong
- Xiaoyi Yan
- Xiaoyi Yan
- Xiaoyi Yan
- Xiaoyi Yan
- Xiaoyi Yan
- Xiaoyi Yan
- Xin Y. Wu
- Xin Y. Wu
- Xuan Wang
- Xufang Wu
- Xun Li
- Xun Li
- Ying Zhang
- Ying Zhang
- Ying Zhang
- Yongho Lee
- Younghee Yun
- Younghee Yun
- Yuhao Wu
- Yumin Cho
- Yutong Fei
- Yutong Fei
- Yuxiang Wan
- Yvonne M. Scherrer
- Zahra Parvizi
- Zhaolan Liu
- Zhaolan Liu
- Zhaolan Liu
- Zhaolan Liu
- Zhaolan Liu
- Zhaolan Liu
- Zhi X. Lin
- Zian Zheng
- Ziomara Balbarrey
- Zulj Marinko
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/06/2017
- Field of study
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
- Author
- Aalfs Cora M.
- Adank Muriel A.
- Adenis Claude
- Adlard Julian
- Agata Simona
- Aghmesheh Morteza
- Agnarsson Bjarni A.
- Ahearn Thomas
- Aittomäki Kristiina
- Ambrosone Christine B.
- Amor David
- Andrews Lesley
- Andrulis Irene L.
- Antill Yoland
- Anton-Culver Hoda
- Antonenkova Natalia N.
- Antoniou Antonis C.
- Armitage Shane
- Arndt Volker
- Arnold Leanne
- Arnold Norbert
- Aronson Kristan J.
- Arun Banu K.
- Asseryanis Ella
- Auber Bernd
- Auvinen Päivi
- Azzollini Jacopo
- Balleine Rosemary
- Balmaña Judith
- Barkardottir Rosa B.
- Barnes Daniel R.
- Barouk-Simonet Emmanuelle
- Barrowdale Daniel
- Barwell Julian
- Bastick Patti
- Baurand Amandine
- Baxter Robert
- Beane Freeman Laura E.
- Beauparlant Charles Joly
- Beckmann Matthias W.
- Beesley Jonathan
- Behrens Sabine
- Beilby John
- Belotti Muriel
- Benitez Javier
- Bennett Ian
- Berger Raanan
- Bermisheva Marina
- Berthet Pascaline
- Bertolone Geoffrey
- Bertrand Ophélie
- Bignon Yves-Jean
- Birot Anne-Marie
- Blackburn Anneke
- Blanco Amie M.
- Blomqvist Carl
- Bogdanova Natalia V.
- Bogliolo Massimo
- Bogwitz Michael
- Bojesen Anders
- Bojesen Stig E.
- Bolla Manjeet K.
- Bonadona Valérie
- Bonanni Bernardo
- Bonnet Françoise
- Borg Ake
- Botes Leon
- Bourdon Violaine
- Boutry-Kryza Nadia
- Brady Angela F.
- Brauch Hiltrud
- Braye Stephen
- Brennan Meagan
- Brenner Hermann
- Bressac-de-Paillerets Brigitte
- Bronner Myriam
- Brown Melissa
- Brüning Thomas
- Bubien Virginie
- Buckley Michael
- Buecher Bruno
- Burgess Matthew
- Burke Jo
- Burwinkel Barbara
- Butow Phyllis
- Buys Saundra S.
- Bézieau Stéphane
- Cadoo Karen
- Caldon Liz
- Caldés Trinidad
- Caleca Laura
- Calender Alain
- Caliebe Almuth
- Caligo Maria A.
- Callen David
- Campa Daniele
- Campbell Ian G.
- Canzian Federico
- Caputo Sandrine
- Caron Olivier
- Carpenter Jane
- Castelao Jose E.
- Castera Laurent
- Catucci Irene
- Chang-Claude Jenny
- Chanock Stephen J.
- Chauhan Deepa
- Chauhan Manisha
- Chenevix-Trench Georgia
- Chiesa Jean
- Christian Alice
- Chung Wendy K.
- Claes Kathleen B. M.
- Clarke Christine L.
- Cohen Paul
- Colas Chrystelle
- Collavoli Anita
- Colley Alison
- Collonge-Rame Marie-Agnès
- Conner Thomas A.
- Coron Fanny
- Couch Fergus J.
- Coulet Florence
- Coupier Isabelle
- Cox David G.
- Crook Ashley
- Cui James
- Culling Bronwyn
- Cummings Margaret
- Cybulski Cezary
- Czene Kamila
- Dahlstrom Jane
- Daly Mary B.
- Damette Alexandre
- Dawson Sarah-Jane
- de la Hoya Miguel
- de Pauw Antoine
- DeFazio Anna
- Delatycki Martin
- Delnatte Capucine
- Dennis Joe
- Devilee Peter
- Dickson Rebecca
- Diez Orland
- Ding Yuan Chun
- Dite Gillian S.
- Ditsch Nina
- Dixon Joanne
- Dobrovic Alexander
- Domchek Susan M.
- Dorfling Cecilia M.
- dos-Santos-Silva Isabel
- Dreyfus Hélène
- Dudding Tracy
- Dumont Aurélie
- Dunning Alison M.
- Dupré Anaïs
- Durda Katarzyna
- Dwek Miriam
- Dörk Thilo
- Easton Douglas F.
- Eccles Diana M.
- Edkins Ted
- Edwards Stacey
- Eisenbruch Maurice
- Ekici Arif B.
- Eliassen A. Heather
- Ellberg Carolina
- Eriksson Mikael
- Evans D. Gareth
- Faivre Laurence
- Farshid Gelareh
- Fasching Peter A.
- Feillel Viviane
- Fellows Andrew
- Fenton Georgina
- Fert-Ferrer Sandra
- Field Michael
- Figlioli Gisella
- Figueroa Jonine
- Flanagan James
- Flyger Henrik
- Fong Peter
- Forbes John
- Forrest Laura
- Fostira Florentia
- Foulkes William D.
- Fourme Emmanuelle
- Fox Stephen
- French Juliet
- Friebel Tara M.
- Friedlander Michael
- Friedman Eitan
- Gabrielson Marike
- Gaddam Pragna
- Gaff Clara
- Gago-Dominguez Manuela
- Gallego-Ortega David
- Gao Chi
- Gapstur Susan M.
- Garber Judy
- García-Closas Montserrat
- García-Sáenz José A.
- Gattas Mike
- Gaudet Mia M.
- Gauthier-Villars Marion
- Gayther Simon A.
- George Peter
- Gesta Paul
- Giles Graham G.
- Gill Grantley
- Giraud Sophie
- Gladieff Laurence
- Glendon Gord
- Godwin Andrew K.
- Goldberg Mark S.
- Goldgar David E.
- Golmard Lisa
- Greene Mark H.
- Greening Sian
- Guillaud-Bataille Marine
- Guimbaud Rosine
- Gutierrez-Barrera Angelica M.
- Guénel Pascal
- Haan Eric
- Haeberle Lothar
- Hahnen Eric
- Haiman Christopher A.
- Hall Per
- Hamann Ute
- Harrington Patricia A.
- Harris Marion
- Hart Stewart
- Hayward Nick
- Hein Alexander
- Heiniger Louise
- Heyworth Jane
- Hillemanns Peter
- Hollestelle Antoinette
- Hopper John L.
- Hosgood H. Dean
- Howell Anthony
- Hu Chunling
- Hulick Peter J.
- Hunt Clare
- Hunter David J.
- Håkansson Niclas
- Imyanitov Evgeny N.
- Ingster Olivier
- Isaacs Claudine
- Jacquot Caroline
- Jakimovska Milena
- Jakubowska Anna
- James Paul
- Janavicius Ramunas
- Janni Wolfgang
- Jenkins Mark
- John Esther M.
- Jones Michael E.
- Jung Audrey
- Kaaks Rudolf
- Karlan Beth Y.
- Kefford Rick
- Khusnutdinova Elza
- Kidd Alexa
- Kientz Caroline
- Kiiski Johanna I.
- Kirk Judy
- Kitahara Cari M.
- Koehler Jessica
- Kollias James
- Konstantopoulou Irene
- Koutros Stella
- Kraft Peter
- Lakhani Sunil
- Lallaoui Hakima
- Lambrechts Diether
- Lasheras Sandra Viz
- Lasset Christine
- Lazaro Conxi
- Le Marchand Loic
- Le Mentec Marine
- Lebrun Marine
- Lee C. Soon
- Legrand Clémentine
- Lejbkowicz Flavio
- Lejeune Sophie
- Leroux Christine Dominique
- Leslie Goska
- Lester Jenny
- Lesueur Fabienne
- Lilyquist Jenna
- Lindeman Geoff
- Lipton Lara
- Lizard Sarab
- Lobb Liz
- Longy Michel
- Loud Jennifer T.
- Lu Karen H.
- Luben Robert N.
- Lubinski Jan
- Lush Michael
- Léone Mélanie
- Mann Graham
- Mannermaa Arto
- Manoochehri Mehdi
- Manoukian Siranoush
- Manouvrier-Hanu Sylvie
- Margolin Sara
- Mari Véronique
- Marsh Deborah
- Martens John W. M.
- Maurer Tabea
- Mavroudis Dimitrios
- McGuffog Lesley
- McLachlan Sue Anne
- Mebirouk Noura
- Meindl Alfons
- Meiser Bettina
- Menon Usha
- Michailidou Kyriaki
- Miller Austin
- Milne Roger L.
- Molina-Gomes Denise
- Moncoutier Virginie
- Montagna Marco
- Morey Adrienne
- Mortemousque Isabelle
- Muller Danièle
- Muranen Taru A.
- Nathanson Katherine L.
- Neuhausen Susan L.
- Nevanlinna Heli
- Newman William G.
- Nguyen-Dumont Tu
- Nielsen Finn Cilius
- Nielsen Sarah
- Nightingale Sophie
- Nikitina-Zake Liene
- Noguchi Tetsuro
- Noguès Catherine
- Offit Kenneth
- Olah Edith
- Olopade Olufunmilayo I.
- Olshan Andrew F.
- Olson Janet E.
- Olsson Håkan
- Osorio Ana
- Ottini Laura
- O’Connell Shona
- O’Sullivan Sarah
- Pachter Nick
- Parsons Michael T.
- Pathmanathan Nirmala
- Patterson Briony
- Peissel Bernard
- Peixoto Ana
- Peterlongo Paolo
- Peto Julian
- Peysselon Magalie
- Pharoah Paul D. P.
- Phillips Kelly
- Pieper Ellen
- Plaseska-Karanfilska Dijana
- Pocza Timea
- Popovici Cornel
- Presneau Nadege
- Prieur Fabienne
- Pujana Miquel Angel
- Pujol Pascal
- Pujol Roser
- Punie Kevin
- Rack Brigitte
- Radice Paolo
- Ramus Susan J.
- Rantala Johanna
- Rashid Muhammad U.
- Rau-Murthy Rohini
- Rebischung Christine
- Remenieras Audrey
- Rennert Gad
- Rhenius Valerie
- Rickard Edwina
- Robinson Bridget
- Romero Atocha
- Rookus Matti A.
- Ross Eric A.
- Rossing Maria
- Rudaitis Vilius
- Ruebner Matthias
- Révillion Françoise
- Saleh Mona
- Salisbury Elizabeth
- Saloustros Emmanouil
- Sambrook Joe
- Sanden Kristin
- Santamariña Marta
- Saule Claire
- Saunders Christobel
- Saunus Jodi
- Scheuner Maren T.
- Schmidt Marjanka K.
- Schmutzler Rita K.
- Schneider Michael
- Scott Christopher
- Scott Clare
- Scott Elizabeth
- Scott Rodney
- Senter Leigha
- Sevenet Nicolas
- Sexton Adrienne
- Shah Mitul
- Sharma Priyanka
- Shelling Andrew
- Shu Xiao-Ou
- Simard Jacques
- Simpson Peter
- Singer Christian F.
- Sobol Hagay
- Sohn Christof
- Sokolowska Johanna
- Soubrier Florent
- Soucy Penny
- Southey Melissa C.
- Spigelman Allan
- Spinelli John J.
- Spurdle Amanda
- Steele Linda
- Stoppa-Lyonnet Dominique
- Surrallés Jordi
- Swerdlow Anthony J.
- Tapper William J.
- Taylor Jessica
- Teixeira Manuel R.
- Terry Mary Beth
- Thomassen Mads
- Thompson Jennifer
- Thorne Heather
- Thull Darcy L.
- Tischkowitz Marc
- Toland Amanda E.
- Tollenaar Rob A.E.M.
- Torres Diana
- Toulas Christine
- Trainer Alison
- Troester Melissa A.
- Truong Thérèse
- Tucker Kathy
- Tung Nadine
- Uhrhammer Nancy
- Untch Michael
- Vachon Celine M.
- van Rensburg Elizabeth J.
- van Veen Elke M.
- Vaur Dominique
- Vega Ana
- Viel Alessandra
- Visvader Jane
- Vénat-Bouvet Laurence
- Walker Logan
- Wang Qin
- Wappenschmidt Barbara
- Warcoin Mathilde
- Weitzel Jeffrey N.
- Wendt Camilla
- Wieme Greet
- Wilcken Nicholas
- Williams Rachael
- Winship Ingrid
- Wolk Alicja
- Yang Xiaohong R.
- Yip Desmond
- Young Mary Ann
- Zeps Nikolajs
- Zheng Wei
- Ziogas Argyrios
- Zorn Kristin K.
- Publication venue
- npj Breast Cancer
- Publication date
- 01/01/2019
- Field of study
Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam P Butler
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison Creason
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amie Radenbaugh
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
- Anke K Bergmann
- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
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- Satoshi Hirano
- Savitri Krishnamurthy
- Scott Frazer
- Scott Wood
- Se Jin Jang
- Sean Cleary
- Sean M Grimmond
- Sebastian M Waszak
- Sebastian M Waszak
- Seiya Imoto
- Seong Gu Heo
- Serap Erkek
- Serena Nik-Zainal
- Serge Serge
- Sergei Yakneen
- Sergei Yakneen
- Sergi Beltran
- Sergio Pulido-Tamayo
- Seung Jun Shin
- Seung-Hyup Jeon
- Shadrielle M G Espiritu
- Shadrielle M G Espiritu
- Shailja Gupta
- Shankar Vembu
- Shanlin Yang
- Shantao Li
- Shaoke Lou
- Shaolong Cao
- Shaowu Meng
- Sharmila Sothi
- Shaun R Preston
- Sheila M Reynolds
- Sheila M Reynolds
- Sheng-Ben Liang
- Shengjie Gao
- Shengjie Gao
- Shida Zhu
- Shimin Shuai
- Shinichi Mizuno
- Shinichi Yachida
- Shinya Hayami
- Shogo Yamamoto
- Shona MacRae
- Shriram G Bhosle
- Shuai Ding
- Shumpei Ishikawa
- Shun-Ichi Ariizumi
- Shuto Hayashi
- Sian Fereday
- Siegfried Haas
- Sietse Aukema
- Siliang Li
- Simon C Heath
- Simon L Parsons
- Simon Mayes
- Simon Tavaré
- Simpson Jared T
- Singer Ma
- Sinisa Ivkovic
- Sissel Juul
- Solomon I Shorser
- Sonia Grimaldi
- Sonia Puig
- Stacey B Gabriel
- Stefan C Dentro
- Stefan G Stark
- Stefan M Pfister
- Stefan Schreiber
- Stefania Tommasi
- Stefano Barbi
- Stefano Serra
- Stephan H Bernhart
- Stephan Ossowski
- Stephan Ossowski
- Stephan Stilgenbauer
- Stephan Wolf
- Stephanie Sungalee
- Stephen B Baylin
- Stephen H Kazakoff
- Stephen J Chanock
- Stephen J Hayes
- Stephen M Cordner
- Stephenie D Prokopec
- Steve Hawkins
- Steve Hoffmann
- Steven A Roberts
- Steven E Schumacher
- Steven Foltz
- Steven G Rozen
- Steven Gallinger
- Steven Hazell
- Steven J M Jones
- Steven J Newhouse
- Steven Van Laere
- Stian Knappskog
- Stuart Edmonds
- Stuart R Jefferys
- Su Pin Choo
- Subhajit Sengupta
- Sue Merson
- Suet-Feung Chin
- Sultan T Al-Sedairy
- Sung-Min Ahn
- Sung-Soo Yoon
- Sunghoon Cho
- Sunil R Lakhani
- Suresh Ramalingam
- Susan Bullman
- Susanna L Cooke
- Sushant Kumar
- Sushant Kumar
- Suyash S Shringarpure
- Syed Haider
- Sylvia Asa
- Søren Brunak
- Takafumi N Yamaguchi
- Takafumi N Yamaguchi
- Takanori Hasegawa
- Takashi Yugawa
- Takashi Yugawa
- Takuji Okusaka
- Tal Shmaya
- Tannistha Nandi
- Taobo Hu
- Taobo Hu
- Tapio Visakorpi
- Tara J Skelly
- Tari A King
- Tatsuhiko Tsunoda
- Tatsuhiro Shibata
- Ted R Hupp
- Tetsuo Ushiku
- Theodorus Van der Kwast
- Thomas E Carey
- Thomas J Hudson
- Thomas J Matthew
- Thomas J Mitchell
- Thorsten Schlomm
- Thorsten Zenz
- Tian Xia
- Tim Dudderidge
- Tim Ley
- Timothy A Beck
- Timothy Defreitas
- Timothy J C Bruxner
- Timothy J Underwood
- Tina Wong
- Tirso Pons
- Tobias Madsen
- Tobias Rausch
- Todd A Johnson
- Todd D Pihl
- Tom Bodenheimer
- Tom Mikkelsen
- Tom Roques
- Tomas J Tanskanen
- Tomas Marques-Bonet
- Tomoko Urushidate
- Torill Sauer
- Toru Nakamura
- Treasa A McPherson
- Troy Shelton
- Tsun-Po Yang
- Ultan McDermott
- Umadevi Veluvolu
- Umut H Toprak
- Valerie Jakrot
- Varsha Tembe
- Vasilisa A Rudneva
- Venkata D Yellapantula
- Venkata D Yellapantula
- Vera B Kaiser
- Veronica Y Sabelnykova
- Victor Reuter
- Vikram Deshpande
- Viktoriya Korchina
- Ville Mustonen
- Vinayak Bhandari
- Vincent Ferretti
- Vincent Huang
- Vincent Huang
- Vincent J Gnanapragasam
- Vincent Khoo
- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
- Walker Hale
- Wan Choi
- Wanding Zhou
- Wang Liang-Bo
- Weerasinghe Amila
- Wei Jiao
- Wendl Michael C
- Wenyi Wang
- Wenyi Wang
- Wenyi Wang
- Wheeler David A
- William B Isaacs
- William C Faquin
- William Friedman
- William Howat
- William U Meyerson
- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yi Huang
- Yifei Men
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Youyong Lu
- Yu Fan
- Yu Fan
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Nature Communications
- Publication date
- 01/01/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
Effect of angiotensin-converting enzyme inhibitor and angiotensin receptor blocker initiation on organ support-free days in patients hospitalized with COVID-19
- Author
- ?ivko Iris
- Abbass Hakam
- Abdeladim Lilia
- Abdelhady Hesham
- Abdelkharim Hussam
- Abdelrazik Marwa
- Abdi Zakee
- Abdukahil Sheryl Ann
- Abel Lynn
- Abraham Jacinta
- Abrahamson Gail
- Abusamra Yousuf
- Aceto Romina
- Adams Nick
- Adams Peter
- Adebambo Olumide
- Adhikari Neill
- Adhikari Sheetal
- Affleck Julia
- Agha Gloria
- Aghemo Alessio
- Agno Ronan
- Ahmad Norfaizan
- Ain Quratul
- Ainscough Kate
- Ainsworth James
- Aitken Lindianne
- Akamp Ceren
- Al Enezi Farhan
- Al-Bassam Wisam
- Al-Beidh Farah
- Albert Martin
- Albrett Jonathan
- Alderman Meera
- Aldo Bonizzoni Matteo
- Alegria Ana
- Alessandro Carà Gianmarco
- Alexander Brian
- Alexander Peter
- Alfonso Jordan
- Ali Maryam
- Ali Murtaza
- Allam Hayat
- Allen Barbara
- Allen Louise
- Allibone Suzanne
- Almeshhedani Hasham
- AlQahtani Samah
- Alswaidan Lolowa
- Altomy Mohammed
- Al Amri Ali
- Al Qasim Eman
- Amatya Sameena
- Ambrosino Richard
- Anderson Thomas
- Andreae Mark
- Aneman Anders
- Angus Derek C.
- Anjum Aisha
- Ankert Juliane
- Annane Djillali
- Anne-Laure Fedou
- Anstey Matthew
- Antcliffe David
- Anthony Alpha
- Antoine Marchalot
- Antoine Pierre
- Antoine Studer
- Anumakonda Vikram
- Aparicio Christelle
- Aquino Maia
- Arabi Yaseen M.
- Arachchige Malka
- Aravindan Latha
- Arbane Gill
- Archambault Patrick
- Archer Simon
- Aref Noah
- Arias Ana-Marie
- Arias Sonia
- Arishi Hatim
- Arnold Donald
- Arnold John
- Arnott Andrew
- Arora Anand
- Aryal Diptesh
- Asghar Adeeba
- Asif Namra
- Aspinwall Angelique
- Attokaran Antony
- Attwood Ben
- Au Carly
- Audry Mathilde
- Austin Karen
- Austin Pauline
- Auvet Adrien
- Avard Bronwyn
- Awan Sidra
- Ayee Robert
- Azaiz Amine
- Azzaui Harun
- Babu Suresh
- Bacon Gina
- Badalamenti Salvatore
- Badie Julio
- Bagavathy Kavitha
- Bagot Catherine
- Bagshaw Sean
- Baig Nadia
- Baikady Ravishankar
- Bailey Lucy
- Baillie Kenneth
- Bain William
- Baker Alice
- Baker Evelyn
- Baker Stuart
- Bakthavatsalam Dhanalakshmi
- Balaie Morteza
- Balls-Burgess Sam
- Bamford Amy
- Bamford Peter
- Banach Dorota
- Bannard-Smith Jonathan
- Barbash Ian
- Barber Russell
- Barbier François
- Barge Deborah
- Bariola Ryan
- Barker Gareth
- Barker Stephanie
- Barnes Nicky
- Baron Rebecca M.
- Barreau Amelie
- Barreau Amélie
- Bart Robert
- Bartholomew Jazz
- Bartley Shauna
- Barton David
- Barton Frances
- Bashyal Archana
- Basile Kim
- Bass Frances
- Bassford Christopher
- Bastos Joana Margarida Pereira Sousa
- Bates Michelle
- Bates Samantha
- Batista Teresa Margarida Oliveira
- Bauchmuller Kris
- Bayne Madeleine
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- Beasley Richard
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- Bedford Caroline
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- Beer Sally
- Begin Phillipe
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- Beqai Besa
- Berdaguer Fernando
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- Bergin Colin
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- Bonten Marc J. M.
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- Borislavova Borislava
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- Boué Yvonnick
- Bowen James
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- Boyd Craig
- Boyles Rebecca
- Bracke Stephanie
- Bradbury Charlotte A.
- Bradley Paul
- Brady Kara
- Brailsford Jane
- Brain Matthew
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- Brant Emily
- Brasselet Aurélie
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- Chen Jonathan
- Chen Lixian
- Chen Yan
- Cheng Allen C.
- Cherian Shiney
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- Ciccarelli Michele
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- Clair Bernard
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- Clement Ian
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- Clermont Gilles
- Clinton Alison
- Cloutier Ève
- Cockrell Maeve
- Codreanu Daniel
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- Combaux Daniele
- Commons Robert
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- Constantino-Occhipinti Claudia
- Contou Damien
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- Conzelmann Nadine
- Cook Deborah
- Cook Tim
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- Cooke Justin
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- Cort Jon
- Costerousse Olivier
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- Cutler Sean
- Cárcel Sheila
- Côté Émilie
- D?Amato Fabiola
- D?Aragon Frédérick
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- Daher Rana
- Dale Katie
- Daley Jessica
- Dalton James
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- Daly Zoe
- Daneman Nick
- Dark Paul
- Darnell Robert
- Darreau Cedric
- Daugherty Jason
- Davey Miriam
- Davidson Neil
- Davies Ellie
- Davies Gwyneth
- Davies Jennifer
- Davies Louisa
- Davies Michelle
- Davies Rhys
- Dawson Laura Ann
- Dawvda Ashlish
- Day Christopher
- Da Rocha Joana
- De Bus Liesbet
- de Courcy-Golder Kim
- de Groot Klaas
- de Jong Menno
- de Jonge Evert
- De Keulenaer Bart
- de la Torre Cisneros Julian
- de Man Angelique
- De Neef Mark
- De Smeytere Anouska
- Deacon Bethan
- Dean Steven
- Dean Tessa
- Dearden Joy
- Dechert William
- Declercq Pierre-Louis
- Degracia Anna
- del Sorbo Lorenzo
- Dela Rosa Arnold
- Delaney Kirsha
- Dell Abbie
- del Prado Michael
- Demetriou Carrie
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- Denham Lynn
- Denmade Craig
- Dent Martin
- Depante Maria
- Depuydt Pieter
- Dequin Pierre-François
- Derde Lennie P. G.
- Deshpande Kush
- Detry Michelle A.
- Deye Nicolas
- de la Fuente Carmen
- De Waele Jan
- Dheke Krishan
- Di Lucca Giuseppe
- Dias Priya
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- Doble Patricia
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- Doi Yohei
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- Donadee Chenell
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- McArthur Colin J.
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- McCallion Edmund
- McCarthy Aine
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- Oza Deepali
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- Panjwani Ashok
- Panwar Rakshit
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- Paramasivam Elankumaran
- Parekh Dhruv
- Parikh Harshel G.
- Parke Rachael L.
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- Ralston Maximillian
- Ramakrishnan N
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- Tatham Kate
- Tavares Silvia
- Taylor Holly
- Taylor Melanie
- Taylor Sian
- Tee Ameila
- Templeton Maie
- Teo Hoon
- Terrill Lenae
- The Stephanie
- Thedinga Karen
- Thomas Amy
- Thomas Ashly
- Thomas Emma
- Thomas Helen
- Thomas Matt
- Thomas Vicky
- Thompson Patricia
- Thompson Taylor
- Thomson Nicola
- Thrush Jessica
- Thurairatnam Saranya
- Tierney Carey
- Tinmouth Alan
- Tirot Patrice
- Tlayjeh Haytham
- Toffalo Sue
- Tolppa Timo
- Tomasi Enrico
- Tomlinson Helen
- Tong Steve
- Tong Steven
- Tony Kiran
- Totzke Juliane
- Touma Omar
- Towns Miriam
- Trapani Tony
- Trask Kara
- Traverse Eleanor
- Trickey Jemma
- Trim Fiona
- Trimmer Ken
- Triulzi Darrell
- Troeman Darren
- Trues Estefania
- Truman Nicholas
- Tsakiridou Kyriaki
- Tsang Jennifer
- Tsinaslanidis Georgios
- Tuckwell Caroline
- Tully Redmond
- Tully Riona
- Tung Raymond
- Tupper-Carey Daryl
- Turgeon Alexis F.
- Turki Salah
- Turner Anne M.
- Turner Elizabeth
- Turner Keri
- Turner-Bone Ian
- Turns Margaret
- TV Bharath
- Udayanga Ishara
- Uddin Ruzena
- Udy Andrew
- Ullmann Hannah
- Umrani Zulfiqar
- Unsworth Adam
- Uriel Alison
- Ustianowski Andrew
- Uyeki Tim
- Vaara Suvi
- Vaduganathan Muthiah
- Vahtera Annukka
- Vale Cassandra
- Valentine Eliza
- Vamplew Luke
- van Amerongen Roosmarijn
- van Bentum-Puijk Wilma
- van Bree Sjoerd
- van de Veerdonk Frank L.
- van den Berg Lettie
- van den Oever Huub
- van der Eng Hetty
- Van Der Heyden Kymbalee
- van der Kraan-Donker Annemarie
- van Gulik Laura
- van Haren Frank
- Van Hecke Jolien
- van Kimmenade Roland
- van Nieuwkoop Kees
- van Zanten Arthur
- van Zuylen Tamara
- Van?t Hoff William
- Vandewoestyne Sophie
- Vanjak Christian
- Vanmali Piyush
- van Opdorp Marjolein
- van Vonderen Marit
- Vargas Jr. Jesus
- Varghese Siby
- Vautier Sarah
- Vazquez-Grande Gloria
- Veenith Tonny
- Veillard Marion
- Venkatesh Bala
- Verlander Mark
- Vermassen Joris
- Vermeiren Daisy
- Vermont - van der Staaij Janine
- Verrier Nathalie
- Vertue Mark
- Verula Jerik
- Victor Saji
- Viehman Alex
- Vieillard-Baron Antoine
- Vignesh C
- Villot Solenne
- Vilá Clara
- Vincent Rachel
- Virdee Satwinder
- Visentin Elisa
- Visser Yorik
- Vita Tina
- Vivier Dominique
- Vodovar Dominique
- Voicu Sebastian
- Voigt Ingo
- Voiriot Guillaume
- Volkov Lev
- Voza Gennaro
- Vuylsteke Alain
- Wada Asako
- Waddington Natalia
- Wahl Nadine
- Waite Alicia
- Walden Andrew
- Walker Gena
- Walker Rachel
- Walker Susan
- Walsh Joanne
- Walsh Tim
- Walsham James
- Walton Catherine
- Wang Shu
- Ward Geraldine
- Ward Kathryn
- Ward Luke
- Warnapura Loku
- Warnock Majella
- Watchorn Olivia
- Waters Abby
- Waterson Sharon
- Watkins Claire
- Watpool Irene
- Watters Malcolm
- Watts Angela
- Waugh Victoria
- Webb Steve A.
- Weber Lisa
- Webster Denise
- Weerasinghe Thanuja
- Weismann Dirk
- Weiss Daniel
- Weissman Alexandra
- Wells Alan
- Wells Colin
- Wells Karen
- Welters Ingeborg
- West Lauren
- Westlake Samantha
- Wetherill Bill
- Wetzold Richard
- Whileman Amanda
- Whitbread Jennifer
- White Alison
- White Hayden
- White Ian
- White Katie
- Whitehead Christina
- Whitehouse Tony
- Wibrow Bradley
- Wigbers Jeanette
- Wijewardena Gayathri
- Wilby Elizabeth
- Wilcox Elizabeth
- Wilcox Louise
- Wild Helen
- Wild Laura
- Wilding Laura
- Wiles Matt
- Wiley Daisy
- Wilhelmsen Elva
- Wilkinson Dean
- Willams Felicity
- Williams Alexandra
- Williams Angharad
- Williams Anna
- Williams Erin
- Williams Gemma
- Williams Hannah
- Williams Karen
- Williams Marie
- Williams Patricia
- Williams Penny
- Williams Tony
- Williams Virginie
- Williamson Dawn
- Williamson James D
- Willis Joanna
- Willson Jayne
- Wilson Anna
- Wilson Craig
- Wilson Jean
- Wilson Maggie
- Winters James
- Winters Lauren
- Wise Matt
- Wisniewski Mary
- Wittekamp Bastiaan
- Wittenberg Wendy
- Wnuk Chris
- Woelke Amy
- Wong Jenny
- Wong Onyee
- Wood Erica
- Wood Hannah
- Wood Tracy
- Woods Jane
- Woods Lindsey
- Woodward Robert
- Woolett Melissa
- Worner Ruth
- Wren Jess
- Wren Lynn
- Wrey Brown Caroline
- Wright Chris
- Wright Kim
- Wunderley Renee
- Wyatt Rachel
- Wylie Katharine
- Xavier Kugan
- Yamagishi Yoshiaki
- Yamashita Chizuru
- Yang Yang
- Yarad Elizabeth
- Yates Bryan
- Yates David
- Yealy Donald
- Young Ian
- Young Meredith
- Young Paul
- Youngstein Taryn
- Yu Haili
- Yusuff Hakeem
- Zaharia Mihaela
- Zaidi Abbas
- Zaki Ahmed
- Zaman Mohsin
- Zarychanski Ryan
- Zdanavidiene Ausra
- Zhao Xiao
- Zinzoni Vanessa
- Zitter Letizia
- Zouita Louisa
- Publication venue
- 'American Medical Association (AMA)'
- Publication date
- 11/04/2023
- Field of study
IMPORTANCE Overactivation of the renin-angiotensin system (RAS) may contribute to poor clinical outcomes in patients with COVID-19.
Objective To determine whether angiotensin-converting enzyme (ACE) inhibitor or angiotensin receptor blocker (ARB) initiation improves outcomes in patients hospitalized for COVID-19.
DESIGN, SETTING, AND PARTICIPANTS In an ongoing, adaptive platform randomized clinical trial, 721 critically ill and 58 non–critically ill hospitalized adults were randomized to receive an RAS inhibitor or control between March 16, 2021, and February 25, 2022, at 69 sites in 7 countries (final follow-up on June 1, 2022).
INTERVENTIONS Patients were randomized to receive open-label initiation of an ACE inhibitor (n = 257), ARB (n = 248), ARB in combination with DMX-200 (a chemokine receptor-2 inhibitor; n = 10), or no RAS inhibitor (control; n = 264) for up to 10 days.
MAIN OUTCOMES AND MEASURES The primary outcome was organ support–free days, a composite of hospital survival and days alive without cardiovascular or respiratory organ support through 21 days. The primary analysis was a bayesian cumulative logistic model. Odds ratios (ORs) greater than 1 represent improved outcomes.
RESULTS On February 25, 2022, enrollment was discontinued due to safety concerns. Among 679 critically ill patients with available primary outcome data, the median age was 56 years and 239 participants (35.2%) were women. Median (IQR) organ support–free days among critically ill patients was 10 (–1 to 16) in the ACE inhibitor group (n = 231), 8 (–1 to 17) in the ARB group (n = 217), and 12 (0 to 17) in the control group (n = 231) (median adjusted odds ratios of 0.77 [95% bayesian credible interval, 0.58-1.06] for improvement for ACE inhibitor and 0.76 [95% credible interval, 0.56-1.05] for ARB compared with control). The posterior probabilities that ACE inhibitors and ARBs worsened organ support–free days compared with control were 94.9% and 95.4%, respectively. Hospital survival occurred in 166 of 231 critically ill participants (71.9%) in the ACE inhibitor group, 152 of 217 (70.0%) in the ARB group, and 182 of 231 (78.8%) in the control group (posterior probabilities that ACE inhibitor and ARB worsened hospital survival compared with control were 95.3% and 98.1%, respectively).
CONCLUSIONS AND RELEVANCE In this trial, among critically ill adults with COVID-19, initiation of an ACE inhibitor or ARB did not improve, and likely worsened, clinical outcomes.
TRIAL REGISTRATION ClinicalTrials.gov Identifier: NCT0273570
A Long-Term Leisure Program for Individuals with Intellectual Disability in Residential Care Settings: Research to Practice
- Publication venue
- e-Publications@Marquette
- Publication date
- 01/09/2013
- Field of study
We studied the effectiveness of an individually-tailored leisure program implemented by direct care staff in a residential program for 28 adults with severe to profound intellectual disability using a multiple baseline design across two homes over a 1½ year baseline and treatment period followed by another nearly 1½ year maintenance phase. The primary tool to assess program effectiveness was a simple and reliable direct observation measure of the percentage of time staff members were meaningfully engaged in leisure activities with the individuals with disability. After program effectiveness was established in the two experimental homes, it was expanded to nine new homes with 106 children and adults with disabilities. The outcome data for the expanded homes was similar to the original experimental homes. The challenges of implementing and maintaining a long-term leisure program in a residential setting are discussed
The relationship between smoking history and current functioning in disabled community-living older adults
- Author
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
Performance of screening MRI in high risk patients at initial versus subsequent screen
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Impact of genetic testing on endometrial cancer risk-reducing practices in women at risk for Lynch syndrome
- Author
- Aarnio
- Aarnio
- Akiyama
- Amie Blanco
- Auranen
- Boland
- Bonadona
- Bronner
- Burke
- Burt
- Collins
- Daniel C. Chung
- Domchek
- Dove-Edwin
- Dunlop
- Elena M. Stoffel
- Finch
- Fishel
- Gerritzen
- Hadley
- Hampel
- Hampel
- Hermsen
- Jarvinen
- Jonathan Terdiman
- Judy E. Garber
- Kauff
- Kauff
- Kristen M. Shannon
- Kwon
- Lecuru
- Lecuru
- Ligtenberg
- Lindor
- Lindor
- Margery Rosenblatt
- Matthew B. Yurgelun
- Miyaki
- Monica Dandapani
- Nicolaides
- Peggy Conrad
- Rebbeck
- Renkonen-Sinisalo
- Rijcken
- Rowena Mercado
- Sapna Syngal
- Schmeler
- Schmeler
- Schwartz
- Skytte
- Stephen B. Gruber
- Stoffel
- Stoffel
- Tung
- Umar
- Vasen
- Vasen
- Vasen
- Wendy Kohlmann
- Yang
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/12/2012
- Field of study
OBJECTIVE: Due to the increased lifetime risk of endometrial cancer (EC), guidelines recommend that women with Lynch syndrome (LS) age ≥35 undergo annual EC surveillance or prophylactic hysterectomy (PH). The aim of this study was to examine the uptake of these risk-reducing strategies. METHODS: The study population included women meeting clinical criteria for genetic evaluation for LS. Data on cancer risk-reducing behaviors were collected from subjects enrolled in two distinct studies: (1) a multicenter cross-sectional study involving completion of a one-time questionnaire, or (2) a single-center longitudinal study in which subjects completed questionnaires before and after undergoing genetic testing. The main outcome was uptake of EC risk-reducing practices. RESULTS: In the cross-sectional cohort, 58/77 (75%) women at risk for LS-associated EC reported engaging in EC risk-reduction. Personal history of genetic testing was associated with uptake of EC surveillance or PH (OR 17.1; 95% CI 4.1–70.9). Prior to genetic testing for LS, 26/40 (65%) women in the longitudinal cohort reported engaging in EC risk-reduction. At one-year follow-up, 16/16 (100%) mismatch repair (MMR) gene mutation carriers were adherent to guidelines for EC risk-reduction, 9 (56%) of whom had undergone PH. By three-year follow-up, 11/16 (69%) MMR mutation carriers had undergone PH. Among women with negative or uninformative genetic test results, none underwent PH after testing. CONCLUSIONS: Genetic testing for LS is strongly associated with uptake of EC risk-reducing practices. Women found to have LS in this study underwent prophylactic gynecologic surgery at rates comparable to those published for BRCA1/2 mutation carriers
A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes
- Author
- Abkevich
- Alter
- Alvaro N.A. Monteiro
- Amie M. Deffenbaugh
- Antoniou
- Billack
- Burke
- Carvalho
- Chapman
- Chenevix-Trench
- Collins
- Cynthia Frye
- David E. Goldgar
- Dmitry Pruss
- Douglas F. Easton
- Edwin S. Iversen
- Fergus J. Couch
- Goldgar
- Gowen
- Grantham
- Hohenstein
- Howlett
- Judkins
- Karchin
- Kristina Allen-Brady
- Lakhani
- Lathrop
- Lovelock
- Lucci-Cordisco
- Miller
- Mirkovic
- Monteiro
- Monteiro
- Morris
- Osorio
- Ostrow
- Petersen
- Phelan
- Richard J. Wenstrup
- Sean V. Tavtigian
- Smith
- Sunyaev
- Tavtigian
- Tavtigian
- Thompson
- Wu
- Yang
- Zhou
- Publication venue
- 'University of Chicago Press'
- Publication date
- Field of study