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

SIMPLE SUMMARY: An unexpectedly high number of early-onset diffuse gastric and lobular breast cancer in apparently unrelated families carrying the same CDH1 c.1901C>T variant (formerly known as missense p.A634V) in Northern Portugal suggested a founder effect in this region. We demonstrated that...

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Detalles Bibliográficos
Autores principales: Barbosa-Matos, Rita, Leal Silva, Rafaela, Garrido, Luzia, Aguiar, Ana Cerqueira, Garcia-Pelaez, José, André, Ana, Seixas, Susana, Sousa, Sónia Passos, Ferro, Luísa, Vilarinho, Lúcia, Gullo, Irene, Devezas, Vitor, Oliveira, Renata, Fernandes, Susana, Costa, Susy Cabral, Magalhães, André, Baptista, Manuela, Carneiro, Fátima, Pinheiro, Hugo, Castedo, Sérgio, Oliveira, Carla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8430675/
https://www.ncbi.nlm.nih.gov/pubmed/34503274
http://dx.doi.org/10.3390/cancers13174464

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8430675/
https://www.ncbi.nlm.nih.gov/pubmed/34503274
http://dx.doi.org/10.3390/cancers13174464

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