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

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

Hereditary diffuse gastric cancer (HDGC) caused by <i>CDH1</i> 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.1901C>T variant (formerly known...

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Bibliographic Details
Main Authors: Rita Barbosa-Matos, Rafaela Leal Silva, Luzia Garrido, Ana Cerqueira Aguiar, José Garcia-Pelaez, Ana André, Susana Seixas, Sónia Passos Sousa, Luísa Ferro, Lúcia Vilarinho, Irene Gullo, Vitor Devezas, Renata Oliveira, Susana Fernandes, Susy Cabral Costa, André Magalhães, Manuela Baptista, Fátima Carneiro, Hugo Pinheiro, Sérgio Castedo, Carla Oliveira
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Cancers
Subjects:
HDGC
<i>CDH1</i>
founder effect
missense variants
cryptic splicing
Online Access:https://www.mdpi.com/2072-6694/13/17/4464

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https://www.mdpi.com/2072-6694/13/17/4464

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