Hereditary Gastrointestinal Cancer Syndromes: Molecular Basis of Onset and Progression, Molecular Diagnosis, and Precision Therapy

Dear Colleagues,

This Topical Collection, entitle  “Hereditary Gastrointestinal Cancer Syndromes: Molecular Basis of Onset and Progression, Molecular Diagnosis, and Precision Therapy” will mainly focus on the principal roles that hereditary gastrointestinal cancer predisposing syndromes plays on colorectal cancer incidence, the molecular basis of their onset and progression, the discovery of  innovative therapies for disease management and care, and the standardization of novel approaches for early diagnosis and cancer prevention.

Colorectal cancer (CRC) is the third most frequent cancer worldwide. About 75% of all CRCs are sporadic cancers and arise following somatic mutations, while about 10% of all CRCs are hereditary cancers, among which are hereditary nonpolyposis colorectal cancer, adenomatous and hamartomatous polyposis syndromes, and gastric adenocarcinoma and proximal polyposis of the stomach. Affected patients are at increased risk for early onset, synchronous and metachronous colorectal cancers and/or adenomas, and extracolonic manifestations. Molecular diagnosis, which currently consists in the identification of pathogenic genetic variants in genes associated with both a high- and low-penetrance cancer risk, is an essential tool for cancer prevention, follow-up, counseling, and survival and represents the gold standard approach in the management of these syndromes. Endoscopic surveillance, polypectomy, and prophylactic surgery, needed for the management of affected patients, are all invasive clinical procedures, and chemoprevention, although it represents a very attractive perspective, is not to date a possible therapeutic alternative for patients. Therefore, there is a pressing need to develop effective, well-tolerated drugs.

We thus consider this subject to be of particular interest because new knowledge can help toward early asymptomatic diagnosis, cancer prevention, and standardization of new therapeutic approaches.

We invite authors to submit original research and review articles that focus on these aforementioned issues. Potential topics include but are not limited to:

• Hereditary gastrointestinal cancer syndromes;
• Adenomatous polyposis syndromes;
• Hamartomatous polyposis syndromes;
• Hereditary nonpolyposis colorectal cancer syndrome;
• Early diagnosis;
• Novel diagnostic and prediction biomarkers;
• Precision therapy.

Prof. Dr. Marina De Rosa
Collection Editor

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