Targeting Pathogenic Variants in Hereditary Cancer Diagnosis and Screening

Dear Colleagues,

The application of next-generation sequencing, such as whole genome sequencing, whole exome sequencing, and target sequencing, has markedly accelerated the discovery of novel disease-causing genes and highly penetrant pathogenic variants. Studies have consistently shown that these pathogenic/loss-of-function variants tend to be evolutionarily recent, rare, and deleterious. As variant allele frequencies drop, their effect sizes can increase beyond the limits imposed by natural selection.   

This Special Issue will highlight the roles of low and rare pathogenic variants (including single-nucleotide variants, small insertions/deletions [Indels], and structural variants) in the risks and outcomes for a variety of diseases in family-based or population-based studies across different populations. Evaluating DNA-based germline pathogenic variants will facilitate early interventions and clinical diagnoses, lead to better treatment, improve prognosis, and provide insights into disease etiology and potential therapeutic targets.

Dr. Yanhong Liu
Guest Editor

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

• disease susceptibility
• prognosis and outcomes
• genetic association
• genetic epidemiology
• germline variants
• pathogenic variants
• rare variants
• exome sequencing
• whole genome sequencing
• target sequencing