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Splicing Variants and Evidence For and Against Their Pathogenicity

Edited by: 
Professor Jan Lubinski, MD, Pomeranian Medical University, Poland
Professor Rodney Scott, PhD, University of Newcastle, Australia
 

Submission Status: Closed

This collection is no longer accepting submissions.


Hereditary Cancer in Clinical Practice is calling for submissions to our Collection on 'Splicing Variants and Evidence For and Against Their Pathogenicity.' 

This collection will comprise of recent research exploring the pathogenicity of splicing variants. 

  1. Peutz-Jeghers syndrome (PJS), an autosomal dominant multiple cancerous disorder, is clinically characterized by mucocutaneous macules and multiple gastrointestinal hamartomatous polyps. Gastric-type endocervic...

    Authors: Liwen Yang, Duan Duan, Ying Xiong, Tianjiao Liu, Lijun Zhao, Fan Lai, Dingxian Gu and Liuying Zhou
    Citation: Hereditary Cancer in Clinical Practice 2024 22:3

About the collection

Hereditary Cancer in Clinical Practice is calling for submissions to our Collection on 'Splicing Variants and Evidence For and Against Their Pathogenicity.' Splicing variants and their potential pathogenicity are important factors to consider in the development of hereditary cancer syndromes and rare diseases. Splicing variants refer to changes in the way genetic information is processed during the production of RNA. 

Splice site variants can have significant implications for disease risk, by altering the coding sequence of a given gene.  Assignment of pathogenicity is not straightforward as not all splice site variants result in a significant change in cancer risk. Identifying which variant is truly pathogenic can be challenging and requires extensive studies that employ a variety of convergent indicators (such as laboratory-based RNA studies and take into consideration quantitative measures of alternative splice products and segregation analysis).  Virtually all diagnostic laboratories do not have the resources to adequately address these issues leaving many patients without a molecular diagnosis.  This collection will comprise of recent research exploring the pathogenicity of splicing variants.


Image credit: © [M] Artur / stock.adobe.com

Submission Guidelines

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This Collection welcomes submission of original Research Articles, Research Articles, Review, Correspondence, Methodology, and Brief report papers. Articles for this Collection should be submitted via our submission system, Snapp. During the submission process you will be asked whether you are submitting to a Collection, please select "Splicing Variants and Evidence For and Against Their Pathogenicity" from the dropdown menu.

Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies. Articles will be added to the Collection as they are published.

The Editors have no competing interests with the submissions which they handle through the peer review process. The peer review of any submissions for which the Editors have competing interests is handled by another Editorial Board Member who has no competing interests.