A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

Autor: te Paske, I.B.A.W., Garcia-Pelaez, J., Sommer, A.K., Matalonga, L., Starzynska, T., Jakubowska, A., Valle, L., Capella, G., Aretz, S., Holinski-Feder, E., Steinke-Lange, V., Laner, A., Schröck, E., Rump, A., Ligtenberg, M., Hoischen, A., Geverink, N., Evans, D.G., Tischkowitz, M., Laurie, S., van der Post, R.S., Lubinski, J., Oliveira, C., Hoogerbrugge, N., de Voer, R.M.

Publikováno v: European Journal of Human Genetics, 29, 1354-1358
te Paske, I B A W, Garcia-Pelaez, J, Sommer, A K, Matalonga, L, Starzynska, T, Jakubowska, A, Valle, L, Capella, G, Aretz, S, Holinski-Feder, E, Steinke-Lange, V, Laner, A, Schröck, E, Rump, A, Ligtenberg, M, Hoischen, A, Geverink, N, Evans, D G, Tischkowitz, M, Laurie, S, van der Post, R S, Lubinski, J, Oliveira, C, Hoogerbrugge, N & de Voer, R M 2021, ' A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report ', European Journal of Human Genetics, vol. 29, no. 9, pp. 1354-1358 . https://doi.org/10.1038/s41431-021-00853-6
European Journal of Human Genetics
European Journal of Human Genetics, 29, 9, pp. 1354-1358

Hereditary diffuse gastric cancer (HDGC) is associated with germline deleterious variants in CDH1 and CTNNA1. The majority of HDGC-suspected patients are still genetically unresolved, raising the need for identification of novel HDGC predisposing gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b55c06ae4407fd0b60de07699ec8f63
https://www.repository.cam.ac.uk/handle/1810/328084

Impact of Truncated O-glycans in Gastric-Cancer-Associated CD44v9 Detection

Autor: Filipe Pinto, Celso A. Reis, Inês B Moreira, Catarina Gomes, Diana Campos

Publikováno v: Cells
Cells, Vol 9, Iss 2, p 264 (2020)
Volume 9
Issue 2

CD44 variant isoforms are often upregulated in cancer and associated with increased aggressive tumor phenotypes. The CD44v9 is one of the major protein splice variant isoforms expressed in human gastrointestinal cancer cells. Immunodetection of CD44

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30de953b85892f1ea8bd26ec3d0308ca
http://europepmc.org/articles/PMC7072479

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility

Autor: Encarna B. Gomez Garcia, Liesbeth Spruijt, Rolf H. Sijmons, Cora M. Aalfs, Margreet G. E. M. Ausems, Inga Bjørnevoll, Marjolijn J. L. Ligtenberg, Frederik J. Hes, Hans K. Schackert, Anna Jakubowska, Carla Oliveira, Rachel S. van der Post, Guglielmina Nadia Ranzani, Jan Lubinski, Annemieke Cats, Urszula Teodorczyk, Liselotte P. van Hest, Ingrid P. Vogelaar, Eveline J. Kamping, J. Han van Krieken, Maurizio Genuardi, Robbert D.A. Weren, Lizet E. van der Kolk, Elke Holinski-Feder, Anja Wagner, Nicoline Hoogerbrugge

Publikováno v: Journal of Medical Genetics, 55, 669-674
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of Medical Genetics
Journal of Medical Genetics, 55(10), 669-674. BMJ Publishing Group
Weren, R D A, van der Post, R S, Vogelaar, I P, Han van Krieken, J, Spruijt, L, Lubinski, J, Jakubowska, A, Teodorczyk, U, Aalfs, C M, van Hest, L P, Oliveira, C, Kamping, E J, Schackert, H K, Ranzani, G N, García, E B G M, Hes, F J, Holinski-Feder, E, Genuardi, M, Ausems, M G E M, Sijmons, R H, Wagner, A, van der Kolk, L E, Cats, A, Bjørnevoll, I, Hoogerbrugge, N & Ligtenberg, M J L 2018, ' Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility ', Journal of Medical Genetics, vol. 55, no. 10, pp. 669-674 . https://doi.org/10.1136/jmedgenet-2017-104962
Journal of Medical Genetics, 55(10), 669-674
Journal of medical genetics, 55(10), 669-674. BMJ Publishing Group
Journal of Medical Genetics, 55, 10, pp. 669-674

BackgroundIn approximately 10% of all gastric cancer (GC) cases, a heritable cause is suspected. A subset of these cases have a causative germline CDH1 mutation; however, in most cases the cause remains unknown. Our objective was to assess to what ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed7affe88f414f3f722496f49bd18bff
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85049163281&origin=inward

Expression and Clinical Relevance of SOX9 in Gastric Cancer

Autor: Paula Boaventura, Patrícia Mesquita, Luísa Pereira, Nair Lopes, Helena Pópulo, Ana Filipa Freire, Daniela Azevedo, Bruno Cavadas, Rita Barros, Bruno Pereira, Leonor David, Raquel Almeida, Rosa Gomes

Publikováno v: Disease Markers, Vol 2019 (2019)
Disease Markers

Gastric cancer is one of the most frequent tumours and the third leading cause of cancer-related death worldwide. The investigation of new biomarkers that can predict patient outcome more accurately and allow better treatment and follow-up decisions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7c30f1d12165724813cba6ef943ff5c
https://doaj.org/article/6ff3c3fe24d74abcb7377aac00e9b74e

Geometric compensation applied to image analysis of cell populations with morphological variability: a new role for a classical concept

Autor: Soraia Melo, Maria Sofia Fernandes, Joana Paredes, Joao Sanches, Joana Figueiredo, Raquel Seruca, Bárbara Sousa, Isabel Rodrigues, João Ribeiro

Publikováno v: Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

Immunofluorescence is the gold standard technique to determine the level and spatial distribution of fluorescent-tagged molecules. However, quantitative analysis of fluorescence microscopy images faces crucial challenges such as morphologic variabili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::753bafa82f143c2609a5c97e35f2c54d
https://pubmed.ncbi.nlm.nih.gov/29980764