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

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

Autor: Bernd Wollnik, Siham Chafai Elalaoui, Kapil Bharti, Connie R. Bezzina, Najim Lahrouchi, Ruchi Sharma, Amina Berraho, Najlae Adadi, Abdelaziz Sefiani, Janine Altmueller, Stanislas Lyonnet, Mones Abu-Asab, Alessandro Plebani, Vardiella Meiner, Felix Onojafe, Sanita Bharti, Yassine Lamsyah, Friedhelm Hildebrandt, Helen McNeill, Ronen Schneider, Alexandra Henrion-Caude, Hamza Elorch, Fatima-Zahra Laarabi, Imane Chebbar, Ilham Ratbi, Elisabeth M. Lodder, Alex V. Postma, Brian P. Brooks, Aman George, Shahida Moosa, Henriette Kyrieleis, Vassilios Lougaris

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Nature communications, 10(1). Nature Publishing Group
Nature Communications

A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis and syndactyly with or without nephropathy, associ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::813282bd9ed009737dce5ec983af210b
https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3

Genomic landscape and clonal architecture of mouse oral squamous cell carcinomas dictate tumour ecology

Autor: Alessandra Vigilante, Mamunur Rashid, Inês Sequeira, Inês M Tomás, Marc J Williams, Trevor A. Graham, David J. Adams, Fiona M. Watt

Publikováno v: Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Sequeira, I, Rashid, M, Tomás, I M, Williams, M J, Graham, T A, Adams, D J, Vigilante, A & Watt, F M 2020, ' Genomic landscape and clonal architecture of mouse oral squamous cell carcinomas dictate tumour ecology ', Nature Communications, vol. 11, no. 1, 5671 . https://doi.org/10.1038/s41467-020-19401-9

To establish whether 4-nitroquinoline N-oxide-induced carcinogenesis mirrors the heterogeneity of human oral squamous cell carcinoma (OSCC), we have performed genomic analysis of mouse tongue lesions. The mutational signatures of human and mouse OSCC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76b01292b83e5f9a3d4cd538bf1a5e67
http://europepmc.org/articles/PMC7652942

PCDH19 pathogenic variants in males:Expanding the phenotypic spectrum

Autor: Jozef Gecz, Raman Kumar, Ingrid E. Scheffer, Rikke S. Møller, Lynette G. Sadleir, Kristy L. Kolc

Publikováno v: Kolc, K L, Møller, R S, Sadleir, L G, Scheffer, I E, Kumar, R & Gecz, J 2020, PCDH19 pathogenic variants in males : Expanding the phenotypic spectrum . in K Turksen (ed.), Cell Biology and Translational Medicine, Volume 10 : Stem Cells in Tissue Regeneration . Springer, Advances in Experimental Medicine and Biology, vol. 1298, pp. 177-187 . https://doi.org/10.1007/5584_2020_574
Cell Biology and Translational Medicine, Volume 10 ISBN: 9783030600112

Protocadherin-19 (PCDH19) pathogenic variants cause an infantile onset epilepsy syndrome called Girls Clustering Epilepsy due to the vast majority of affected individuals being female. This syndromic name was developed to foster early recognition and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db6cee71a3c2e23d0687e6145b4ed784
https://portal.findresearcher.sdu.dk/da/publications/952604cb-a815-4e40-bf7c-64687b3663c0

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

Autor: Hyunglok Chung, Aamir Nazir, Federico Santoni, Alkistis Manousopoulou, Hugo J. Bellen, Khitab Gul, Graeme C.M. Black, Maqsood Ali Ansari, Stylianos E. Antonarakis, Muhammad Ansar, Rachel L. Taylor, Constantin J. Pournaras, Samina Imtiaz, Emilie Falconnet, Jawad Ahmed, Inayat Shah, Sondas Saeed, Periklis Makrythanasis, Michel Guipponi, Muhammad T. Sarwar, Emmanuelle Ranza

Publikováno v: Taylor, R L & Black, G 2018, ' Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts ', American Journal of Human Genetics, vol. 103, no. 4, pp. 568-578 . https://doi.org/10.1016/j.ajhg.2018.09.004

Infantile and childhood-onset cataracts form a heterogeneous group of disorders; among the many genetic causes, numerous pathogenic variants in additional genes associated with autosomal-recessive infantile cataracts remain to be discovered. We ident

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64dd3f45d6e6b70caf69d2d3b3c7a9c6
https://doi.org/10.1016/j.ajhg.2018.09.004