First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants

Autor: Marie Coudert, Youenn Drouet, Hélène Delhomelle, Magali Svrcek, Patrick R Benusiglio, Florence Coulet, Dana Farengo Clark, Bryson W Katona, Liselotte P van Hest, Lizet E van der Kolk, Annemieke Cats, Jolanda M van Dieren, Bita Nehoray, Thomas Slavin, Isabel Spier, Robert Hüneburg, Silvana Lobo, Carla Oliveira, Lise Boussemart, Laure Masson, Jean Chiesa, Mathias Schwartz, Bruno Buecher, Lisa Golmard, Anne-Marie Bouvier, Valérie Bonadona, Dominique Stoppa-lyonnet, Christine Lasset, Chrystelle Colas

Publikováno v: Coudert, M, Drouet, Y, Delhomelle, H L, Svrcek, M, Benusiglio, P R, Coulet, F, Clark, D F, Katona, B W, van Hest, L P, van der Kolk, L E, Cats, A, van Dieren, J M, Nehoray, B, Slavin, T, Spier, I, Hüneburg, R, Lobo, S, Oliveira, C, Boussemart, L, Masson, L, Chiesa, J, Schwartz, M, Buecher, B, Golmard, L, Bouvier, A-M, Bonadona, V, Stoppa-Lyonnet, D, Lasset, C & Colas, C 2022, ' First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants ', Journal of Medical Genetics, vol. 59, no. 12, 108740, pp. 1189-1195 . https://doi.org/10.1136/jmg-2022-108740
Journal of Medical Genetics, 59(12):108740, 1189-1195. BMJ Publishing Group

BackgroundPathogenic variants (PV) ofCTNNA1are found in families fulfilling criteria for hereditary diffuse gastric cancer (HDGC) but no risk estimates were available until now. The aim of this study is to evaluate diffuse gastric cancer (DGC) risks

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad47af2da9d874d303ae2358b3351281
https://doi.org/10.1136/jmg-2022-108740

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

Autor: José Garcia-Pelaez, Rita Barbosa-Matos, Silvana Lobo, Alexandre Dias, Luzia Garrido, Sérgio Castedo, Sónia Sousa, Hugo Pinheiro, Liliana Sousa, Rita Monteiro, Joaquin J Maqueda, Susana Fernandes, Fátima Carneiro, Nádia Pinto, Carolina Lemos, Carla Pinto, Manuel R Teixeira, Stefan Aretz, Svetlana Bajalica-Lagercrantz, Judith Balmaña, Ana Blatnik, Patrick R Benusiglio, Maud Blanluet, Vincent Bours, Hilde Brems, Joan Brunet, Daniele Calistri, Gabriel Capellá, Sergio Carrera, Chrystelle Colas, Karin Dahan, Robin de Putter, Camille Desseignés, Elena Domínguez-Garrido, Conceição Egas, D Gareth Evans, Damien Feret, Eleanor Fewings, Rebecca C Fitzgerald, Florence Coulet, María Garcia-Barcina, Maurizio Genuardi, Lisa Golmard, Karl Hackmann, Helen Hanson, Elke Holinski-Feder, Robert Hüneburg, Mateja Krajc, Kristina Lagerstedt-Robinson, Conxi Lázaro, Marjolijn J L Ligtenberg, Cristina Martínez-Bouzas, Sonia Merino, Geneviève Michils, Srdjan Novaković, Ana Patiño-García, Guglielmina Nadia Ranzani, Evelin Schröck, Inês Silva, Catarina Silveira, José L Soto, Isabel Spier, Verena Steinke-Lange, Gianluca Tedaldi, María-Isabel Tejada, Emma R Woodward, Marc Tischkowitz, Nicoline Hoogerbrugge, Carla Oliveira

Publikováno v: Garcia-Pelaez, J, Barbosa-Matos, R, Lobo, S, Dias, A, Garrido, L, Castedo, S, Sousa, S, Pinheiro, H, Sousa, L, Monteiro, R, Maqueda, J J, Fernandes, S, Carneiro, F, Pinto, N, Lemos, C, Pinto, C, Teixeira, M R, Aretz, S, Bajalica-Lagercrantz, S, Balmaña, J, Blatnik, A, Benusiglio, P R, Blanluet, M, Bours, V, Brems, H, Brunet, J, Calistri, D, Capellá, G, Carrera, S, Colas, C, Dahan, K, de Putter, R, Desseignés, C, Domínguez-Garrido, E, Egas, C, Evans, D G, Feret, D, Fewings, E, Fitzgerald, R C, Coulet, F, Garcia-Barcina, M, Genuardi, M, Golmard, L, Hackmann, K, Hanson, H, Holinski-Feder, E, Hüneburg, R, Krajc, M, Lagerstedt-Robinson, K, Lázaro, C, Ligtenberg, M J L, Martínez-Bouzas, C, Merino, S, Michils, G, Novaković, S, Patiño-García, A, Ranzani, G N, Schröck, E, Silva, I, Silveira, C, Soto, J L, Spier, I, Steinke-Lange, V, Tedaldi, G, Tejada, M-I, Woodward, E R, Tischkowitz, M, Hoogerbrugge, N & Oliveira, C 2023, ' Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes : a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes ', The Lancet. Oncology, vol. 24, no. 1, pp. 91-106 . https://doi.org/10.1016/S1470-2045(22)00643-X
Lancet Oncology, 24, 1, pp. 91-106
Scientia
Lancet Oncology, 24, 91-106

Genotype; Cancer phenotypes; Genetic tumour Genotip; Fenotips del càncer; Tumor genètic Genotipo; Fenotipos del cáncer; Tumor genético Background Truncating pathogenic or likely pathogenic variants of CDH1 cause hereditary diffuse gastric cancer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0135cda703c531e384ac8d463c801fde
https://lirias.kuleuven.be/handle/20.500.12942/714811

Digital imaging-assisted quantification of H3K27me3 immunoexpression in luminal A/B-like, HER2-negative, invasive breast cancer predicts patient survival and risk of recurrence

Autor: João Lobo, Silvana Lobo, Sofia Salta, Susana Palma de Sousa, Mário Fontes-Sousa, Carmen Jerónimo, Paula Lopes, Luís Antunes, Rui Henrique, Maria Amorim

Publikováno v: Molecular Medicine, Vol 26, Iss 1, Pp 1-9 (2020)
Molecular Medicine

Background Breast cancer (BC) is a major health concern and better understanding of its biology might improve treatment decisions and patient outcomes. Histone3 Lysine27 tri-methylation (H3K27me3) is a post-translational histone modification frequent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc75271681a940dbd648c9e75038dc13
https://doaj.org/article/eb77fa7d45344c0b90a772a606ed42c3

Skipping Exon-v6 from CD44v6-Containing Isoforms Influences Chemotherapy Response and Self-Renewal Capacity of Gastric Cancer Cells

Autor: Carla Pereira, Gabriela M. Almeida, Carla Oliveira, Silvana Lobo

Publikováno v: Cancers
Cancers, Vol 12, Iss 2378, p 2378 (2020)
Volume 12
Issue 9

De novo expressed CD44 isoforms containing exon-v6 are frequently associated with gastric cancer (GC) aggressiveness, and may predict chemotherapy response in vitro. Whether exon-v6 itself is responsible for conferring these properties to CD44v6-cont

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c979b3a3a92bfa35efba2dfc0aa606
http://europepmc.org/articles/PMC7564355