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Title: Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report
Issue Date: 2019
Publisher: BMJ
Citation: J. Med. Genet..2019 07;(56)7:453-460
Abstract: PALB2 monoallelic loss-of-function germ-line variants confer a breast cancer risk comparable to the average BRCA2 pathogenic variant. Recommendations for risk reduction strategies in carriers are similar. Elaborating robust criteria to identify loss-of-function variants in PALB2-without incurring overprediction-is thus of paramount clinical relevance. Towards this aim, we have performed a comprehensive characterisation of alternative splicing in PALB2, analysing its relevance for the classification of truncating and splice site variants according to the 2015 American College of Medical Genetics and Genomics-Association for Molecular Pathology guidelines.
Rights: Atribución-NoComercial-SinDerivadas 3.0 España
Appears in Collections:Hospitales > H. U. Clínico San Carlos > Artículos

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