Abstract
Gastrointestinal cancer is one of the major causes of death worldwide. Hereditary gastrointestinal cancer syndromes constitute about 5-10% of all cancers. About 20-25% of undiagnosed cases have a possible hereditary component, which is not yet established. In the last few decades, the advance in genomics has led to the discovery of multiple cancer predisposition genes in gastrointestinal cancer. Physicians should be aware of these syndromes to identify high-risk patients and offer genetic testing to prevent cancer death. In this review, we describe clinical manifestations, genetic testing and its challenges, diagnosis and management of the major hereditary gastrointestinal cancer syndromes.
MeSH terms
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Adenomatous Polyposis Coli / diagnosis
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Adenomatous Polyposis Coli / genetics*
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Adenomatous Polyposis Coli / mortality
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Adenomatous Polyposis Coli / therapy
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Biomarkers, Tumor / genetics*
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Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis
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Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
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Colorectal Neoplasms, Hereditary Nonpolyposis / mortality
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Colorectal Neoplasms, Hereditary Nonpolyposis / therapy
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Genetic Predisposition to Disease
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Heredity
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Humans
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Melanoma / diagnosis
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Melanoma / genetics*
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Melanoma / mortality
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Melanoma / therapy
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Melanoma, Cutaneous Malignant
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Molecular Diagnostic Techniques
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Mutation*
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Pedigree
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Phenotype
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Predictive Value of Tests
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Prognosis
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Risk Factors
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Skin Neoplasms / diagnosis
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Skin Neoplasms / genetics*
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Skin Neoplasms / mortality
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Skin Neoplasms / therapy
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Stomach Neoplasms / diagnosis
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Stomach Neoplasms / genetics*
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Stomach Neoplasms / mortality
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Stomach Neoplasms / therapy