Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2

Autor: Eamonn R. Maher, Olivier Giger, Marlee S Fernando, Ruth T Casey, James A. G. Whitworth, Jaqueline Cook, Philip Smith, Phillipe Taniere, Graeme R. Clark, Nihr BioResource, Jose Ezequiel Martin

Publikováno v: European Journal of Human Genetics

Funder: DH | National Institute for Health Research (NIHR); doi: https://doi.org/10.13039/501100000272
Funder: National Health Service
Funder: European Research Council (Advanced Researcher Award) Cancer Research UK Cambridge Cancer Centre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb5c5fc0aa47e828087be4afc894920
http://europepmc.org/articles/PMC8298530

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Autor: Judith Balmaña, Douglas F. Easton, Adeline Cuggia, Kenneth Offit, Heli Nevanlinna, Judy Garber, Florentia Fostira, Kelly A. Metcalfe, Jana Soukupova, Carlo Tondini, Orland Diez, George Zogopoulos, James Scarth, Marketa Janatova, Tuya Pal, Mark E. Robson, James E. Redman, Laura Ottini, Patrick Concannon, Ann S.G. Lee, Åke Borg, Anders Kvist, Sandra Schneider, Valentina Silvestri, Christoph Engel, Rachel Silva-Smith, Antoine De Pauw, Tu Nguyen-Dumont, Inga Plaskocinska, Katherine L. Nathanson, Hans Ehrencrona, Susan J. Ramus, Rita K. Schmutzler, Craig Luccarini, Mitul Shah, Sophia George, Goska Leslie, Jeffrey N. Weitzel, Irene Konstantopoulou, Carl Blomqvist, William D. Foulkes, Georgia Chenevix-Trench, Marc Tischkowitz, Thomas van Overeem Hansen, Pei Sze Ng, Kathleen Claes, Ellen L. Goode, Olufunmilayo I. Olopade, Sarah M. Nielsen, Andy C. H. Lee, Melissa C. Southey, Ramunas Janavicius, Jill S. Dolinsky, Alfons Meindl, Paolo Peterlongo, Julie O. Culver, Kristiina Aittomäki, Robert Winqvist, Alison H. Trainer, Tuomas Heikkinen, Paolo Radice, David E. Goldgar, Florian Obermair, Marie E. Wood, Jonine L. Bernstein, Sook-Yee Yoon, Paul D.P. Pharoah, Christopher R. Hake, Claude Houdayer, Irene L. Andrulis, Aaron Elliott, Zaki El-Haffaf, Petra Kleiblova, Jukka S. Moilanen, Judith Hurley, Antonis C. Antoniou, Siranoush Manoukian, Fergus J. Couch, Anne-Bine Skytte, Susan L. Neuhausen, Gary Unzeitig, D. Gareth Evans, Eamonn R. Maher, John L. Hopper, Rachel McFarland, James A. G. Whitworth, Judith Penkert, Julian Barwell, Susan M. Domchek, Zdenek Kleibl, Leila Dorling, Lisa Golmard, Peter Ang, Brennan Decker, Cheng Har Yip, Nur Aishah Taib, Vilius Rudaitis, Julian Adlard, Xin Yang, Jamie Allen, Lydia Usha, Francesca Damiola, Amal Yussuf, Katri Pylkäs, Alicja Doroszuk, Eric Hahnen, Muriel A. Adank, Karen A. Pooley, Soo Hwang Teo, Kristie Bobolis, Paul A. James, Alison M. Dunning, Holly LaDuca, Stephen B. Gruber, Wendy McKinnon, Fabienne Lesueur, Lucy Side, Arto Mannermaa, Thomas P. Slavin

Publikováno v: Yang, X, Leslie, G, Doroszuk, A, Schneider, S, Allen, J, Decker, B, Dunning, A M, Redman, J, Scarth, J, Plaskocinska, I, Luccarini, C, Shah, M, Pooley, K, Dorling, L, Leei, A, Adank, M A, Adlard, J, Aittomäki, K, Andrulis, I L, Ang, P, Barwell, J, Bernstein, J L, Bobolis, K, Borg, Å, Blomqvist, C, Claes, K B M, Concannon, P, Cuggia, A, Culver, J O, Damiola, F, De Pauw, A, Diez, O, Dolinsky, J S, Domchek, S M, Engel, C, Evans, D G, Fostira, F, Garber, J, Golmard, L, Goode, E L, Gruber, S B, Hahnen, E, Hake, C, Heikkinen, T, Hurley, J E, Janavicius, R, Kleibl, Z, Kleiblova, P, Konstantopoulou, I, Kvist, A, Laduca, H, Lee, A S G, Lesueur, F, Maher, E R, Mannermaa, A, Manoukian, S, McFarland, R, McKinnon, W, Meindl, A, Metcalfe, K, Taib, N A M, Moilanen, J, Nathanson, K L, Neuhausen, S, Ng, P S, Nguyen-Dumont, T, Nielsen, S M, Obermair, F, Offit, K, Olopade, O I, Ottini, L, Penkert, J, Pylkäs, K, Radice, P, Ramus, S J, Rudaitis, V, Side, L, Silva-Smith, R, Silvestri, V, Skytte, A B, Slavin, T, Soukupova, J, Tondini, C, Trainer, A H, Unzeitig, G, Usha, L, Van Overeem Hansen, T, Whitworth, J, Wood, M, Yip, C H, Yoon, S Y, Yussuf, A, Zogopoulos, G, Goldgar, D, Hopper, J L, Chenevix-Trench, G, Pharoah, P, George, S H L, Balmaña, J, Houdayer, C, James, P, El-Haffaf, Z, Ehrencrona, H, Janatova, M, Peterlongo, P, Nevanlinna, H, Schmutzler, R, Teo, S H, Robson, M, Pal, T, Couch, F, Weitzel, J N, Elliott, A, Southey, M, Winqvist, R, Easton, D F, Foulkes, W D, Antoniou, A C & Tischkowitz, M 2020, ' Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families ', Journal of Clinical Oncology, vol. 38, no. 7, pp. 674-685 . https://doi.org/10.1200/JCO.19.01907

PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these ri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa6efd9d1ddf683873bdcb0c64763fb9
https://doi.org/10.1200/jco.19.01907

Post-acute COVID-19 syndrome after reinfection and vaccine breakthrough by the SARS-CoV-2 Gamma variant in Brazil

Autor: Ketiuce de Azevedo Zukeram, Chris Smith, Cláudio Tadeu Daniel-Ribeiro, Otávio de Melo Espíndola, James A. G. Whitworth, Isabella Campos Vargas de Moraes, Michele Fernanda Borges da Silva, Stephanie Lema Suarez Penetra, Mia Ferreira Araujo, Claudia Raja Gabaglia, Maria Ogrzewalska, Trevon L Fuller, Mayumi Duarte Wakimoto, Myrna C. Bonaldo, Renata Serrano Lopes, Anielle da Pina-Costa, Alex Pauvolid-Corrêa, Heloisa F P Santos, Ighor Arantes, Guilherme Amaral Calvet, Paola Cristina Resende, Larissa R Lira-Silva, Lusiele Guaraldo, Karin Nielsen-Saines, Ana Beatriz Machado Lima, Marilda M. Siqueira, Patrícia Brasil

Publikováno v: International Journal of Infectious Diseases
International Journal of Infectious Diseases, Vol 114, Iss, Pp 58-61 (2022)

We describe a case of prolonged COVID-19 caused by the SARS-CoV-2 Gamma variant in a fully vaccinated healthcare worker, 387 days after an infection caused by lineage B.1.1.33. Infections were confirmed by whole-genome sequencing and corroborated by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2e1574b081a6817d3caa564ba3cf0fb
https://researchonline.lshtm.ac.uk/id/eprint/4663436/7/Penetra_etal_2021_Post-acute-covid-19-syndrome.pdf

SARS-CoV-2 Infection Dynamics in Children and Household Contacts in a Slum in Rio de Janeiro

Autor: Liege Maria Abreu de Carvalho, Aline R. Matos, Guilherme Amaral Calvet, Paola Cristina Resende, Pâmella Lugon, Aline Dessimoni Salgado, Tulio Machado Fumian, Trevon Fuller, James A. G. Whitworth, Chris Smith, Karin Nielsen-Saines, Luana Damasceno, Leonardo Soares Bastos, Fábio Correia Malta, Fernanda Christina Morone Fernandes, Marilia Sá Carvalho, Oswaldo Gonçalves Cruz, Marilda M. Siqueira, Patrícia Brasil, Lusiele Guaraldo

Publikováno v: Pediatrics

OBJECTIVES To investigate the dynamics of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in a vulnerable population of children and their household contacts. METHODS SARS-CoV-2 reverse transcription polymerase chain reaction a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d552ca92564141fe3b33a5eb1bacbff2
https://pubmed.ncbi.nlm.nih.gov/33863845

COVID-19: a fast evolving pandemic

Autor: James A. G. Whitworth

Publikováno v: Transactions of The Royal Society of Tropical Medicine and Hygiene
Transactions of the Royal Society of Tropical Medicine and Hygiene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77e1a64f9f125f1c57cbe0c671381d78
https://researchonline.lshtm.ac.uk/id/eprint/4656517/1/Whitworth-2020_COVID-19-a_fast_evolving-pandemic..pdf