Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants

PALB2 loss‐of‐function variants confer high risk of developing breast cancer. Here we present a systematic functional analysis of PALB2 splice‐site variants detected in approximately 113,000 women in the large‐scale sequencing project Breast Cancer After Diagnostic Gene Sequencing (BRIDGES; https://...

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Bibliographic Details
Main Authors: Valenzuela‐Palomo, Alberto, Bueno‐Martínez, Elena, Sanoguera‐Miralles, Lara, Lorca, Víctor, Fraile‐Bethencourt, Eugenia, Esteban‐Sánchez, Ada, Gómez‐Barrero, Susana, Carvalho, Sara, Allen, Jamie, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Dorling, Leila, Easton, Douglas F, Devilee, Peter, Vreeswijk, Maaike PG, de la Hoya, Miguel, Velasco, Eladio A
Format: Online Article Text
Language:English
Published: John Wiley & Sons, Ltd 2021
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Original Articles
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306493/
https://www.ncbi.nlm.nih.gov/pubmed/34846068
http://dx.doi.org/10.1002/path.5839

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306493/
https://www.ncbi.nlm.nih.gov/pubmed/34846068
http://dx.doi.org/10.1002/path.5839

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