Please use this identifier to cite or link to this item: https://hdl.handle.net/10216/127563
Author(s): Figueiredo J
Melo S
Gamet K
Godwin T
Seixas S
Sanches J
Guilford P
Seruca R
Title: E-cadherin signal sequence disruption: A novel mechanism underlying hereditary cancer
Publisher: BMC
Issue Date: 2018
Abstract: The aim of this study was to uncover the pathogenic relevance and the underlying molecular mechanism of a novel CDH1 variant found in a Hereditary Diffuse Gastric Cancer family (p.L13_L15del), which affects the signal peptide of E-cadherin without changing the remaining predicted sequence. We verified that p.L13_L15del cells yield low levels of E-cadherin, decreased cell adhesion and enhanced cell invasion. Further, we demonstrated that the disruption of the highly conserved hydrophobic core of the signal peptide hampers the binding of cellular components crucial for E-cadherin translation and translocation into the endoplasmic reticulum, constituting a new molecular basis for the loss of a tumour suppressor gene causative of hereditary cancer.
URI: https://hdl.handle.net/10216/127563
Source: Molecular Cancer, vol.17(1):112
Related Information: info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBPD%2F87705%2F2012/PT
Document Type: Artigo em Revista Científica Internacional
Rights: openAccess
License: https://creativecommons.org/licenses/by/4.0/
Appears in Collections:I3S - Artigo em Revista Científica Internacional

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