Splicing Analysis of 16 <i>PALB2</i> ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants

Splicing Analysis of 16 <i>PALB2</i> ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants

<i>PALB2</i> loss-of-function variants are associated with significant increased risk of breast cancer as well as other types of tumors. Likewise, splicing disruptions are a common mechanism of disease susceptibility. Indeed, we previously showed, by minigene assays, that 35 out of 42 &l...

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Bibliographic Details
Main Authors: Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Elena Bueno-Martínez, Ada Esteban-Sánchez, Inés Llinares-Burguet, Alicia García-Álvarez, Pedro Pérez-Segura, Susana Gómez-Barrero, Miguel de la Hoya, Eladio A. Velasco-Sampedro
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Cancers
Subjects:
hereditary breast cancer
cancer susceptibility genes
<i>PALB2</i>
aberrant splicing
functional assay
minigenes
Online Access:https://www.mdpi.com/2072-6694/14/18/4541

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https://www.mdpi.com/2072-6694/14/18/4541

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