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.
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