Targeting Pathogenic Variants in Hereditary Cancer Diagnosis and Screening
A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Causes, Screening and Diagnosis".
Deadline for manuscript submissions: 31 July 2025 | Viewed by 1987
Special Issue Editor
Interests: lung cancer; head and neck cancer; glioma; genetic epidemiology; risk prediction and early detection
Special Issue Information
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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Keywords
- disease susceptibility
- prognosis and outcomes
- genetic association
- genetic epidemiology
- germline variants
- pathogenic variants
- rare variants
- exome sequencing
- whole genome sequencing
- target sequencing
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