Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report (Q92487400)

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30 April 2020

title

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report (English)

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alternative mRNA splicing, via spliceosome

30 April 2020

main subject

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Vanessa Lattimore

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John F Pearson

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Alexandra Martins

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Patricia Llovet

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Johan Vallon-Christersson

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kConFab Investigators

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object named as

kConFab Investigators

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Eladio A Velasco

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Melissa Southey

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Maaike Pg Vreeswijk

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Amanda Spurdle

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Logan C Walker

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Miguel de la Hoya

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author name string

Irene Lopez-Perolio

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Raquel Behar

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Laurent Castéra

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Dominique Vaur

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Nicolas Goardon

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Grégoire Davy

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Vanesa García-Barberán

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Pedro Pérez-Segura

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Eduardo Díaz-Rubio

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Trinidad Caldés

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Kathleen S Hruska

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Vickie Hsuan

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Sitao Wu

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Tina Pesaran

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Rachid Karam

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Ake Borg

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Alberto Valenzuela-Palomo

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Peter Devilee

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Anders Kvist

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Sophie Krieger

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publication date

19 March 2019

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Journal of Medical Genetics

30 April 2020

published in

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volume

56

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issue

7

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30 April 2020

page(s)

453-460

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Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.

30 April 2020

cites work

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Most Alternative Isoforms Are Not Functionally Important.

11 February 2021

1 reference

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The Relationship between Alternative Splicing and Proteomic Complexity.

11 February 2021

1 reference

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NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017.

11 February 2021

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Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care

11 February 2021

1 reference

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Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

11 February 2021

1 reference

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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

11 February 2021

1 reference

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A Hypomorphic PALB2 Allele Gives Rise to an Unusual Form of FA-N Associated with Lymphoid Tumour Development

11 February 2021

1 reference

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Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

11 February 2021

1 reference

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BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance

11 February 2021

1 reference

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Gene-panel sequencing and the prediction of breast-cancer risk

11 February 2021

1 reference

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Rethinking gene regulatory networks in light of alternative splicing, intrinsically disordered protein domains, and post-translational modifications

11 February 2021

1 reference

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

11 February 2021

1 reference

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Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes

11 February 2021

1 reference

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Breast-cancer risk in families with mutations in PALB2

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6591742

PALB2: the hub of a network of tumor suppressors involved in DNA damage responses

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6591742

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

11 February 2021

1 reference

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Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

11 February 2021

1 reference

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Landscape of transcription in human cells

11 February 2021

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The origins, evolution, and functional potential of alternative splicing in vertebrates

11 February 2021

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Alternative splicing and molecular characterization of splice site variants: BRCA1 c.591C>T as a case study.

11 February 2021

1 reference

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Different levels of alternative splicing among eukaryotes

11 February 2021

1 reference

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Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.

11 February 2021

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Alternative splicing: new insights from global analyses

11 February 2021

1 reference

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Molecular characterization and cancer risk associated withBRCA1 andBRCA2 splice site variants identified in multiple-case breast cancer families

11 February 2021

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Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions

11 February 2021

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10.1136/JMEDGENET-2018-105834

11 February 2021

Identifiers

DOI

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