Insights into Hereditary Gastrointestinal Cancer

Dear Colleagues,

Individuals with hereditary gastrointestinal cancer syndrome are at a significantly higher risk for developing cancer than the general population due to pathogenic variants in a gene or group of genes that they have. The cancers that they are at risk for depends on the type of syndrome and pathogenic variant, when identified, that they have. Hereditary GI cancer syndromes are a subset of hereditary cancer syndromes where the highest risks of cancer are within the gastrointestinal tract, though they may be at risk for cancers outside of the gastrointestinal tract as well. For example, though the leading causes of cancer in familial adenomatous polyposis are that of the colon and duodenum, they also are at risk for thyroid cancer. In addition to the risk of colon, stomach, and small bowel cancer in Lynch syndrome, individuals also are at risk for cancers of the urinary tract, endometrium, ovaries, and skin.

The study of hereditary gastrointestinal cancers is an evolving field particularly with improved diagnosis through advances in genetic testing, early recognition, and novel treatments. Previously, individuals with a high pretest probability of having a syndrome based on personal and family history received genetic testing due to limitations in and costs of available technology. Today, multiple genes can be tested at a fraction of the price, leading to the discovery of new genes as well as an improved understanding of the cancer risks associated with well-known genes. Management of patients involves a combination of medications, surveillance strategies, and surgery to prevent cancer formation. Equally important is the identification of at-risk family members through cascade testing ideally before they present with cancer.

Given the number of syndromes and nuances involved in care, patients are managed by a multidisciplinary team. Furthermore, many patients and their families are enrolled in hereditary cancer registries, which can be found throughout the world.

The aim of this Special Issue entitled Insights into Hereditary Gastrointestinal Cancer is to highlight the advances in the diagnosis and management of hereditary gastrointestinal cancer syndromes including those classified as adenomatous polyposis, serrated polyposis, hamartomatous, mixed polyposis, and non-polyposis. We also invite studies on moderate-risk genes associated with gastrointestinal cancer. Original research papers, clinical cases, and reviews are welcome from experts to help inform clinical decision making and patient management.

Dr. Gautam Naresh Mankaney
Guest Editor

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