Please use this identifier to cite or link to this item:
https://hdl.handle.net/20.500.12530/54274
Title: | Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report |
Authors: | |
Keywords: | |
Mesh: | |
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. |
URI: | https://hdl.handle.net/20.500.12530/54274 |
Rights: | Atribución-NoComercial-SinDerivadas 3.0 España |
Appears in Collections: | Hospitales > H. U. Clínico San Carlos > Artículos |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
Lopez-Perolio et al, 2019 PALB2 alternative splicing and variant classification.pdf | Original Article on Cancer Genetics | 671 kB | Adobe PDF | ![]() View/Open |
This item is licensed under a Creative Commons License