Histological and mutational profile of diffuse gastric cancer: current knowledge and future challenges

Autor: José Garcia‐Pelaez, Rita Barbosa‐Matos, Irene Gullo, Fátima Carneiro, Carla Oliveira

Publikováno v: Molecular Oncology, Vol 15, Iss 11, Pp 2841-2867 (2021)

Gastric cancer (GC) pathogenesis is complex and heterogeneous, reflecting morphological, molecular and genetic diversity. Diffuse gastric cancer (DGC) and intestinal gastric cancer (IGC) are the major histological types. GC may be sporadic or heredit

Externí odkaz: https://doaj.org/article/54411e83c7db455ea0245eec7ff8018d

Genetic and Epigenetic Alterations of CDH1 Regulatory Regions in Hereditary and Sporadic Gastric Cancer

Autor: Gianluca Tedaldi, Chiara Molinari, Celina São José, Rita Barbosa-Matos, Ana André, Rita Danesi, Valentina Arcangeli, Mila Ravegnani, Luca Saragoni, Paolo Morgagni, Francesca Rebuzzi, Matteo Canale, Sara Pignatta, Elisa Ferracci, Giovanni Martinelli, Guglielmina Nadia Ranzani, Carla Oliveira, Daniele Calistri, Paola Ulivi

Publikováno v: Pharmaceuticals, Vol 14, Iss 5, p 457 (2021)

E-cadherin is a key player in gastric cancer (GC) and germline alterations of CDH1, its encoding gene, are responsible for Hereditary Diffuse Gastric Cancer (HDGC) syndrome. This study aimed at elucidating the role of genetic variants and DNA methyla

Externí odkaz: https://doaj.org/article/93314491ddb043b1bf1a47a691c33b20

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

Genetic and Epigenetic Alterations of CDH1 Regulatory Regions in Hereditary and Sporadic Gastric Cancer

Autor: Celina São José, Francesca Rebuzzi, Chiara Molinari, Matteo Canale, Daniele Calistri, Elisa Ferracci, Paola Ulivi, Ana André, Gianluca Tedaldi, Paolo Morgagni, Valentina Arcangeli, Sara Pignatta, Luca Saragoni, Rita Barbosa-Matos, Carla Oliveira, Guglielmina Nadia Ranzani, Mila Ravegnani, Rita Danesi, Giovanni Martinelli

Publikováno v: Pharmaceuticals
Volume 14
Issue 5
Pharmaceuticals, Vol 14, Iss 457, p 457 (2021)

E-cadherin is a key player in gastric cancer (GC) and germline alterations of CDH1, its encoding gene, are responsible for Hereditary Diffuse Gastric Cancer (HDGC) syndrome. This study aimed at elucidating the role of genetic variants and DNA methyla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d47e1a091a276f57c4d43c28887e1b78

The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing

Autor: Susy Costa, André Magalhães, Luísa Ferro, Susana Fernandes, Hugo Pinheiro, Renata Cartaxo de Oliveira, Ana Cerqueira Aguiar, Sónia Passos Sousa, Manuela Baptista, Carla Oliveira, Fátima Carneiro, Rita Barbosa-Matos, José Garcia-Pelaez, Irene Gullo, Lúcia Vilarinho, Rafaela Silva, Sérgio Castedo, Luzia Garrido, Susana Seixas, Ana André, Vítor Devezas

Publikováno v: Cancers (Basel)
Cancers, Vol 13, Iss 4464, p 4464 (2021)

Hereditary diffuse gastric cancer (HDGC) caused by CDH1 variants predisposes to early-onset diffuse gastric (DGC) and lobular breast cancer (LBC). In Northern Portugal, the unusually high number of HDGC cases in unrelated families carrying the c.1901

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4475302c2ff77541a76c039b73cbbfb
https://doi.org/10.3390/cancers13174464