Genetic Screening and Personalized Prevention in Hereditary Gastrointestinal Cancer Syndromes
A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Pathophysiology".
Deadline for manuscript submissions: 30 April 2026 | Viewed by 70
Special Issue Editors
Interests: hereditary gastrointestinal cancer syndromes; NGS multigene panel tests; pathogenic variant (PV); variant of uncertain significance (VUS); Lynch syndrome; mismatch repair (MMR) genes; gastrointestinal cancer susceptibility; functional impact of the genetic variant
Interests: hereditary gastrointestinal cancer syndromes; next-generation sequencing (NGS); genetic risk assessment; germline variants; genetic counseling; personalized medicine; cancer genetics; variant interpretation
Special Issue Information
Dear Colleagues,
Globally, gastric, pancreatic, and colorectal cancers are among the most prevalent causes of mortality. Numerous causative genes of gastrointestinal (GI) cancer have been identified, and a substantial proportion of patients with GI cancer have a family history. Gene carriers who inherit these gastrointestinal tumors frequently develop multiple types of cancer at a young age. Early detection of these conditions through genetic testing and targeted surveillance can potentially save lives. These inherited syndromes are not always associated with high penetrance of gastrointestinal cancer. The identification of numerous predisposing genes associated with an elevated risk of gastrointestinal cancer has been facilitated by advancements in clinical genomics. This Special Issue aims to help clinicians and healthcare providers better understand the current transition in clinical genetic testing for inherited gastrointestinal cancer predisposition syndromes, with a focus on the interpretation of multigene panel testing results.
This issue offers a comprehensive assessment of molecular diagnoses; the recommended eligibility criteria for genetic testing; the interpretation of genetic tests (NGS multigene panels); genotype–phenotype associations; and the management of five major hereditary gastrointestinal cancers: familial adenomatous polyposis, Lynch syndrome, hereditary diffuse gastric cancer, Li–Fraumeni syndrome, and hereditary pancreatic cancer.
Dr. Candida Fasano
Dr. Vittoria Disciglio
Guest Editors
Manuscript Submission Information
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Keywords
- hereditary gastrointestinal cancer syndromes
- NGS multigene panel tests
- pathogenic variant (PV)
- variant of uncertain significance (VUS)
- mismatch repair (MMR) genes
- gastrointestinal cancer susceptibility
- personalized medicine
- genetic risk assessment
- germline variants
- genetic counseling
- functional impact of the genetic variant
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